Medicine Dermatology

Cancer and Skin Lesions

Description

This cluster of papers focuses on the study of cutaneous adnexal neoplasms, including topics such as extramammary Paget's disease, cylindromatosis gene mutations, Mohs micrographic surgery, and the use of immunohistochemistry in diagnosis. It also covers related syndromes and molecular markers associated with these neoplasms.

Keywords

Extramammary Paget's Disease; Adnexal Neoplasms; Paget's Disease; Cylindromatosis Gene; Mohs Micrographic Surgery; Immunohistochemistry; Trichoepithelioma; Pilomatricoma; Sweat Gland Carcinoma; ß-Catenin Mutation

Cytokeratin (CK) 14, one of several markers expressed in normal myoepithelial/basal cells, is also expressed in a proportion of breast carcinomas. Previous studies have suggested that expression of such 'basal' … Cytokeratin (CK) 14, one of several markers expressed in normal myoepithelial/basal cells, is also expressed in a proportion of breast carcinomas. Previous studies have suggested that expression of such 'basal' markers predicts different biological behaviour, with more frequent lung and brain metastases and poorer prognosis than other carcinomas. We performed CK14 immunohistochemistry on 443 grade III invasive ductal carcinomas with extended clinical follow-up (mean 116 months), and we correlated CK14 immunopositivity (basal-like phenotype) with clinicopathological criteria. Eighty-eight of 443 (20%) tumours showed CK14 expression. CK14-positive tumours were more likely to be oestrogen receptor-negative (p < 0.0001) and axillary node-negative (p = 0.001) than were CK14-negative cases. CK14-positive cases developed less bone and liver metastases (hazard ratio [HR] 0.49, p = 0.01, and HR 0.53, p = 0.035, respectively) but more frequent brain metastases (HR 1.92, p = 0.051). In patients without metastatic disease, disease-free survival in CK14-positive cases was significantly better than in CK14-negative cases (HR 0.65, p = 0.005). In patients with metastatic disease, however, CK14 positivity was associated with a poorer prognosis (HR 1.84, p = 0.001). The overall survival in CK14-positive and -negative patients was similar at 5 years (60% and 59%, respectively), but the long-term survival was better in CK14-positive patients (HR 0.69, p = 0.02). These results demonstrate that basal-like tumours differ in their biological behaviour from other tumours, with a distinct pattern of metastatic spread. Compared to other grade III tumours, basal-like tumours appear to have a relatively good long-term survival but survival after metastases is poor.
The clinicopathologic characteristics of 69 cases of eccrine porocarcinoma (EP) have been studied. Seven cases of purely in situ disease are included. Forty patients were female, 29 male with ages … The clinicopathologic characteristics of 69 cases of eccrine porocarcinoma (EP) have been studied. Seven cases of purely in situ disease are included. Forty patients were female, 29 male with ages ranging from 29 to 91 years (mean 73 years). The lower extremity represented the single most common site (44%). Other common sites were the trunk (15 cases, 24%) and head (11 cases, 18%). The histologic diagnosis of EP was predicated on the basis of an irregular tumor at least partly formed of characteristic poromatous basaloid epithelial cells displaying ductal differentiation, and significant cytologic atypia. Forty-seven tumors (68%) contained mature well-formed eccrine ducts having an eosinophilic luminal cuticle, with the remaining tumors containing small ill-formed ducts and/or intracytoplasmic lumina. All ducts were discernible via light microscopy and in 49 cases were highlighted with DPAS stain and/or CEA/EMA immunocytochemistry. A variant with a broad pushing tumor margin and marked nuclear pleomorphism showed some resemblance to proliferative bowenoid dysplasia. In 11 cases (18%) the tumors appeared to arise in continuity with a benign preexistent poroma. A variety of histologic patterns were displayed including clear, squamous, and spindle cell differentiation, mucus cell metaplasia, and colonization by melanocytes. Lymphovascular invasion was present in 9 cases (15%). Three cases showed pagetoid extension of malignant cells (epidermotropism) and appeared to be multifocal. Follow-up was available in 54 patients (78%) with 9 (17%) experiencing local recurrence, 10 developing lymph node metastases (19%), and 6 (11%) experiencing distant metastases or death. Mitoses, the presence of lymphovascular invasion, and tumor depth >7 mm were associated with a poorer prognosis. Dividing tumors into those with a “pushing” or “infiltrating” advancing margin was also predictive of outcome with the latter having an increased risk of local recurrence. This report, the largest series of EP to date, suggests that the incidence of aggressive behavior is less than popularly believed. Furthermore, EP can display a wide variety of histologic patterns that may lead to diagnostic error in the unwary. The large number of cases in this series enables a reliable evaluation of prognostic parameters. A more aggressive clinical course may be indicated by more than 14 mitoses per high power field (hazard ratio [HR] for death 17.0, 95% confidence interval [CI] 2.71–107), lymphovascular invasion by tumor (HR 4.41, CI 1.13–17.2), and depth >7 mm (HR 5.49, CI 1.0–30.3). Thus, mitoses, lymphovascular invasion, and tumor depth should be evaluated in these tumors. We also suggest that tumors presenting an “infiltrative” advancing margin are particularly prone to local recurrence and require wide excision with close attention to the surgical margins by the reporting pathologist.
Abstract Raman microspectroscopy was applied to analyze the changes in structural conformation and chemical composition of the mass of human skin pilomatrixoma (PMX). The normal skin dermis, collagen type I, … Abstract Raman microspectroscopy was applied to analyze the changes in structural conformation and chemical composition of the mass of human skin pilomatrixoma (PMX). The normal skin dermis, collagen type I, and hydroxyapatite (HA) were used as control. The excised specimens from two patients diagnosed as a typical PMX were detected, in which one specimen was a soft mass, but the other was a hard mass with somewhat calcified deposits via histopathological examination. The Raman spectrum of normal skin dermis was found to be similar to the Raman spectrum of collagen type I, confirming that the collagen type I was a predominant component in normal skin dermis. The differences of Raman peak intensity between normal skin dermis and soft or hard PMX mass were obvious at 1,622–1,558, 1,400–1,230, 1,128, 1,000–850, 749, and 509 cm −1 . In particular, the peak at 1,665 cm −1 assigned to amide I band shifted to 1,655 cm −1 and the peak at 1,246 cm −1 corresponding to amide III band was reduced in its intensity in hard PMX mass. The significant changes in collagen content and its structural conformation, the higher content of tryptophan, and disulfide formation in PMX masses were markedly evidenced. In addition, the shoulder and weak peak at 960 cm −1 assigned to the stretching vibration of PO of HA also appeared respectively in the Raman spectra of soft and hard PMX masses, suggesting the occurrence of calcification of HA in the PMX tissue, particularly in the hard PMX mass. The result indicates that the micro‐Raman spectroscopy may provide a highly sensitive and specific method for identifying normal skin dermis and how it differs in chemical composition from different PMX tissues. Microsc. Res. Tech. 68:75–79, 2005. © 2005 Wiley‐Liss, Inc.
Benign soft-tissue tumors in a large referral population: distribution of specific diagnoses by age, sex, and location.M J KransdorfAudio Available | Share Benign soft-tissue tumors in a large referral population: distribution of specific diagnoses by age, sex, and location.M J KransdorfAudio Available | Share
Perianal Paget's disease is rare, and its relationship to an associated internal regional cancer has been ill defined. We analyzed the histologic and immunohistochemical features of perianal Paget's disease in … Perianal Paget's disease is rare, and its relationship to an associated internal regional cancer has been ill defined. We analyzed the histologic and immunohistochemical features of perianal Paget's disease in 11 patients to determine the frequency and relationship of associated regional internal carcinoma and to gain insight into its histogenesis. Of five patients with documented rectal adenocarcinoma, it was discovered synchronously with the Paget's disease in four and, subsequently, in one. Paget's cells of signet ring type predominated in four cases. Intraepithelial glands with intraluminal dirty necrosis were present in four cases. The immunophenotype in four cases studied was cytokeratin (CK)7+/CK20+/gross cystic disease fluid protein- (GCDFP) in both the intraepithelial Paget's cells and the invasive rectal adenocarcinoma. Six patients did not have documented rectal carcinoma. The Paget's cells in four were CK7+/CK20-/GCDFP15+. Three of these had purely intraepithelial Paget's disease, and invasive or metastatic disease developed in none after wide local excision. Bilateral inguinal lymph node metastases developed in the fourth patient, and the patient died 8 months after diagnosis of Paget's disease. In two patients, the Paget's cells were CK7+/CK20+/GCDFP15-. Recurrent intraepithelial perianal Paget's disease developed in one patient at 7 months; the patient was alive without disease at 24 months, and the other patient had several intraepithelial recurrences of perianal Paget's disease, and, subsequently, a large perianal tumor of uncertain cell type developed at 108 months, which led to the patient's death. We conclude that there are two types of perianal Paget's disease. One type has endodermal differentiation with gastrointestinal-type glands containing intraluminal dirty necrosis, numerous signet ring cells, CK20 positivity, and GCDFP15 negativity. Such cases are especially likely to be associated with synchronous or metachronous rectal adenocarcinoma. The other type is a primary cutaneous intraepithelial neoplasm in which the Paget's cells display sweat gland differentiation, including GCDFP15 positivity; it generally lacks gastrointestinal-type glands, intraluminal dirty necrosis, and CK20 positivity. The CK7 is a sensitive, albeit nonspecific, marker for Paget's cells.
In a sibship of nine, six members had hereditary medullary carcinoma of the thyroid. Two of those with thyroid neoplasms and two without had numerous small papular skin lesions. These … In a sibship of nine, six members had hereditary medullary carcinoma of the thyroid. Two of those with thyroid neoplasms and two without had numerous small papular skin lesions. These proved to be a type of pilar tumor that we named fibrofolliculoma. Further investigation of the total kindred of 70 showed no other evidence of thyroid neoplasm. Skin tumors only appeared after the age of 25 years. Fifteen of 37 members older than the age of 25 years exhibited the typical skin lesions. Obviously, the original sibship was the repository of two dominantly inherited traits. The fibrofolliculoma is characterized by abnormal hair follicles with epithelial strands extending out from the infundibulum of the hair follicle into a hyperplastic mantle of specialized firbrous tissue. Associated skin lesions in this kindred were trichodiscomas and acrochordons.
Five patients had trabecular carcinomas of the skin. The growths originate within the dermis or in the immediate subcutis, and display a uniform morphology. They are composed of solid trabeculae … Five patients had trabecular carcinomas of the skin. The growths originate within the dermis or in the immediate subcutis, and display a uniform morphology. They are composed of solid trabeculae that lack definite acini. A derivation from cells that are capable of reproducing primitive sudoriferous structures is postulated. The lesions have been encountered in elderly patients of both sexes, and the larger tumors have disseminated actively by lymphatic pathways. Trabecular carcinomas may occasion diagnostic difficulty, for they may be misinterpreted as cutaneous metastases from visceral cancers. The histological features of these tumors are not sufficiently distinctive to permit differentiation from anaplastic metastatic carcinomas. Confirmation of their primary dermal origin is dependent upon the clinical outcome. Familiarity with their existence is, however, of importance in the evaluation of cutaneous malignancy.
Mammary and extramammary Paget9s disease are uncommon intraepithelial adenocarcinomas. Both conditions have similar clinical features, which mimic inflammatory and infective diseases. Histological diagnostic confusion can arise between Paget9s disease and … Mammary and extramammary Paget9s disease are uncommon intraepithelial adenocarcinomas. Both conditions have similar clinical features, which mimic inflammatory and infective diseases. Histological diagnostic confusion can arise between Paget9s disease and other neoplastic conditions affecting the skin, with the most common differential diagnoses being malignant melanoma and atypical squamous disease. The glandular differentiation of both mammary Paget9s disease and extramammary Paget9s disease is indicated by morphological appearances, the presence of intracellular mucin in many cases, and positive immunohistochemical staining for glandular cytokeratins, epithelial membrane antigen, and carcinoembryonic antigen. This article provides an overview of mammary and extramammary Paget9s disease and discusses recent evidence regarding the cell of origin. The concepts of primary and secondary Paget9s disease are presented and the differential diagnosis is discussed with reference to immunohistochemical markers that might be of diagnostic value.
Four families were identified in which a pair of children had soft-tissue sarcomas: three sets of sibs and one set of cousins. One parent of each affected child developed cancer; … Four families were identified in which a pair of children had soft-tissue sarcomas: three sets of sibs and one set of cousins. One parent of each affected child developed cancer; carcinoma of the breast occurred in three mothers under 30 years of age. Other young adults in these families had a high frequency of cancer, with no evidence of underlying genetic disorders known to carry a high risk of neoplasia. The increased familial susceptibility to cancer was manifested not only by the large number of members affected but by a seeming excess of multiple primary neoplasms. These findings suggest a new "familial" syndrome of neoplastic diseases in which heredity or oncogenic agents, or both, may have a causal role.
Microcystic adnexal carcinoma is an unusual locally aggressive neoplasm that is important to recognize since it may be confused with benign adnexal neoplasms, particularly desmoplastic trichoepithelioma, trichoadenoma, and syringoma. Six … Microcystic adnexal carcinoma is an unusual locally aggressive neoplasm that is important to recognize since it may be confused with benign adnexal neoplasms, particularly desmoplastic trichoepithelioma, trichoadenoma, and syringoma. Six cases are described all of which displayed benign histological features on initial biopsy. Most often these neoplasms presented as solitary flesh-colored indurated plaques on the upper lip. All patients were white, five were women, and the average age was 44-years-old. Islands of basaloid keratinocytes, some of which contained horn cysts and abortive follicles, were embedded in a desmoplastic stroma. In other foci, ducts and gland-like structures lined by a two-cell layer predominated. In deep components individual and thin strands of cells dissected collagen bundles and skeletal muscle and invaded perineural spaces. Despite this, cytologic atypia and mitotic figures were rare. The cell of origin is considered to be a pluripotential adnexal keratinocyte which is capable of both follicular and sweat gland differentiation.
Primary sarcomas of the breast are extremely rare, with less than 0.1% of all malignant tumours of the breast. Mayo Clinic Surgical Pathology database was searched for all breast sarcoma … Primary sarcomas of the breast are extremely rare, with less than 0.1% of all malignant tumours of the breast. Mayo Clinic Surgical Pathology database was searched for all breast sarcoma from 1910 to 2000. Pathology reports and slides were reviewed and tumour types were determined. Metaplastic carcinomas and phyllodes tumours were excluded. There were 25 women ranging in age 24–81 years (mean 45 years). All but one patient presented with a palpable lump. Mastectomy was performed in 19 patients and lumpectomy in five patients. Histopathological diagnoses were fibrosarcoma (six), angiosarcoma (six), pleomorphic sarcoma (six), leiomyosarcoma (two), myxofibrosarcoma (three), hemangiopericytoma (one) and osteosarcoma (one). Tumour size ranged from 0.3 to 12 cm (mean 5.7). Low-grade lesions were observed in 10 cases and high-grade in 15. Overall, mean follow-up was 10.5 years. Local recurrence was observed in 11 patients and ranged from 2 to 36 months (mean 15 m), while distant metastasis was observed in 10 patients (40%) affecting lungs, bones, liver, spleen, and skin. Of the 25 patients, 12 have died of disease and six of other causes. Five-year overall (OS) and cause-specific survival (CSS) were 66 and 70%, respectively. OS and DFS at 5 years were 91% for tumours ⩽5 cm and 50% for tumours >5 cm. Tumour size was significantly associated with OS (risk ratio=1.3 per 1 cm increase; 95% CI, 1.02–1.7; P=0.036). There was no significant difference in OS or CSS between low- and high-grade lesions. In this series, tumour size was a more valuable prognostic factor than tumour grade.
A clinicopathologic study was made of 35 patients with primary eccrine adenocarcinoma diagnosed in the past 20 years from among 450,000 consecutive skin biopsy specimens. Histologically the following four distinct … A clinicopathologic study was made of 35 patients with primary eccrine adenocarcinoma diagnosed in the past 20 years from among 450,000 consecutive skin biopsy specimens. Histologically the following four distinct variants were identified: eccrine porocarcinoma (18 cases), syringoid eccrine carcinoma (12 cases), mucinous eccrine carcinoma (three cases), and clear cell eccrine carcinoma (two cases). Overall, eccrine adenocarcinomas are destructive lesions with a tendency to local recurrence. The syringoid histologic variant appears to be well differentiated and may have a benign clinical course; the lesion remained localized to the skin in our 12 cases. Regional lymphatic and distant metastasis, however, occurred in two patients with eccrine porocarcinoma.
Abstract Paget's disease is an intra‐epidermal adenocarcinoma seen over the nipple/areola (mammary Paget's disease) or in extramammary body zones, such as the anogenital and perineal skin and the axilla. Mammary … Abstract Paget's disease is an intra‐epidermal adenocarcinoma seen over the nipple/areola (mammary Paget's disease) or in extramammary body zones, such as the anogenital and perineal skin and the axilla. Mammary and extramammary Paget's disease share many common clinicopathological features but also show several differences, namely, with regard to pathogenesis and association with underlying malignancies. Indeed, mammary Paget's disease is as a rule associated with an underlying breast carcinoma whereas association of extramammary Paget's disease with underlying (skin or visceral) malignancies occurs much less frequently. We review here the main clinicopathological and therapeutic features of mammary and extramammary Paget's disease.
The pluripotentiality of the cutaneous organ is well illustrated by the many epithelial structures it can form. This is seen not only in normal skin but in cutaneous neoplasms as … The pluripotentiality of the cutaneous organ is well illustrated by the many epithelial structures it can form. This is seen not only in normal skin but in cutaneous neoplasms as well. Neoplasms with microscopic features that indicate both epithelial and mesenchymal origin have been referred to as mixed tumors. 1 The term has been applied not only to those of the skin but also to many tumors unrelated to skin or to one another, i.e., basosquamous carcinoma, mixed tumors of salivary gland, mixed tumors of kidney, and other tumors with a mixture of cell types. In this paper we are reporting a study of a cutaneous tumor that has been referred to as mixed tumor of skin, salivary gland type. Because the tumor is relatively uncommon, it has not been investigated in all of its aspects. On the basis of a large collection we have been able to evaluate the
X-ray effects on normal tissues have been enhanced by combining roentgen irradiation with the intravenous administration of actinomycin D (1, 2), an antibiotic and carcinolytic agent isolated by Waksman (3, … X-ray effects on normal tissues have been enhanced by combining roentgen irradiation with the intravenous administration of actinomycin D (1, 2), an antibiotic and carcinolytic agent isolated by Waksman (3, 4). Encouraging responses to this form of combined therapy have also been noted in a variety of neoplasms (1). One hundred and twenty-six children and adults have received 220 courses of this form of treatment at The Children's Cancer Research Foundation of The Children's Medical Center in Boston. The clinical observations to be described are based on experience with these patients. The effects of combined therapy on normal tissues are: 1. Early erythema in the therapy portal after skin doses (including exit dose) of 350 r or less. Comparable responses after irradiation alone usually require skin doses of about 1,200 r. 2. Similar enhanced responses are obtained in the buccal and pharyngeal mucosa of patients receiving x-ray treatment to the head and neck. 3. The time required for progression of these radiation reactions in the skin through the usual stages of erythema, tanning, desquamation, and complete healing is reduced to four to six weeks rather than the two to three months usually elapsing following x-ray alone. 4. Actinomycin D therapy alone can reactivate "latent" radiation effects in normal tissues. For example, in skin previously irradiated but normal in appearance an erythema may develop during actinomycin D therapy, identical in type to that produced by roentgen irradiation. This response is sharply restricted to the areas previously treated by x-rays. The severity of the reaction varies from a mild reddening to pronounced desquamation. It is most accentuated when only a brief interval separates the courses of radiotherapy and chemotherapy. 5. These enhanced effects can lead to dangerously severe local reactions if high doses of each agent are used together or successively, or should a patient prove to be especially sensitive to the combination. In order to study these reactions further, the effects of combined treatment on the skin of normal mice were examined. Groups of normal healthy CAF mice, approximately 20 gm. in weight, were selected. Actinomycin D was given intravenously or intraperitoneally in single doses of 150 µg./kg. or in similar amounts daily for three days. The radiation factors were: 250 kv (constant potential), 15 ma, 40 cm. T.S.D., 1 mm. A1 (added filtration), h.v.1. 0.63 mm. of copper. The output at 40 cm, was 247 r per minute. The animals were shielded from the direct beam and from back-scatter by appropriate lead, only the right rear legs being included in the beam. The doses given were 1,000 r (air) in one exposure or 1,200 r (air) in three days (400 r daily). The following observations were made: 1. There were no pathological changes produced in the skin of mice receiving only actinomycin D. 2. Earlier and more consistent epilation appeared in mice treated with x-rays combined with actinomycin D than in those treated only with x-rays.
A high frequency of chromosomal breakage and rearrangement has been found in cultured blood cells from six of seven individuals with a rare syndrome characterized by congenital telangiectatic erythema and … A high frequency of chromosomal breakage and rearrangement has been found in cultured blood cells from six of seven individuals with a rare syndrome characterized by congenital telangiectatic erythema and stunted growth. Only 19 instances of this apparently genetically determined disorder are known, and malignant neoplasia has developed in three.
Fifty-five patients with extramammary Paget's disease were the source of material for this study. Step-sections were done through most of the specimens. Clinical information, including follow-up, was obtained on 45 … Fifty-five patients with extramammary Paget's disease were the source of material for this study. Step-sections were done through most of the specimens. Clinical information, including follow-up, was obtained on 45 of the 55 patients. Extramammary Paget's disease could be divided histologically according to where Paget cells were found, namely: 1) wholly within the epidermis and the epithelial structures of adnexa; 2) within the epidermis, the epithelial structures of adnexa, and the dermis; 3) within the epidermis, the epithelial structures of adnexa, and contiguous epithelia of other organs such as the genitourinary and gastrointestinal tracts. Our conclusions are that extramammary Paget's disease is more than one disease and in most instances begins in the epidermis as an adenocarcinoma and extends from there into contiguous epithelium of hair follicles and eccrine sweat ducts. Uncommonly, Paget cells extend from the epidermis into the dermis and from there may metastasize. Rarely, extramammary Paget's disease results from direct extension into the skin of an adenocarcinoma in a contiguous organ such as the genitourinary or gastrointestinal tract.
C225 is an antibody to the epidermal growth factor receptor (EGFR), and inhibits growth of various tumour cells. The antibody is currently being used as a therapeutic agent in several … C225 is an antibody to the epidermal growth factor receptor (EGFR), and inhibits growth of various tumour cells. The antibody is currently being used as a therapeutic agent in several clinical trials of patients with carcinomas. Objectives To determine and investigate the cutaneous side-effects in cancer patients treated with C225. Methods We clinically examined 10 patients treated with C225, and performed immunohistochemical and in situ hybridization studies on skin biopsies. Results The most common cutaneous reaction to C225 therapy was the development of an acneiform follicular eruption, which was most pronounced on the face, chest and upper back and typically manifested a week after the onset of treatment. The consistency of the morphology and timing of the clinical findings in 10 different patients following monotherapy with C225 strongly suggested a direct biological effect of the antibody. Additional dermatological side-effects included focal areas of tender paronychial inflammation of toes and fingers and small aphthous ulcers of the oral mucosa. Serial punch biopsies of chest skin before and after treatment (at 8 days) revealed two main reaction patterns: a superficial dermal inflammatory cell infiltrate surrounding hyperkeratotic and ectatic follicular infundibula, and a suppurative superficial folliculitis. In two biopsies focal intraepidermal acantholysis was found. Microbiological cultures failed to reveal an infectious aetiology. Immunohistochemical and in situ hybridization studies on a subset of the biopsies showed an increase in the expression of p27Kip1 in epidermal keratinocytes after treatment with C225. Conclusions Our findings support the concept that p27Kip1 plays a part in the in vivo regulation of follicular and epidermal homeostasis by EGFR.
This is indeed an unusual tome. It presents a collection of articles all dealing with ocular oncology. It comprises nearly 900 pages and more than 800 illustrations. It covers nearly … This is indeed an unusual tome. It presents a collection of articles all dealing with ocular oncology. It comprises nearly 900 pages and more than 800 illustrations. It covers nearly all aspects of ocular tumors in an encyclopedic fashion. Nothing like this has ever been offered to the ophthalmic community and it is unlikely that anything like it will come forward in any language in the near future. The book is dedicated to Algernon B. Reese, the doyen of ocular pathology in this country. The editor is now in charge of the laboratory at the College of Physicians and Surgeons, New York, where Dr Reese worked for many decades. The book has 71 contributors and most of them are ophthalmic pathologists. Many of the authors are associated with the College of Physicians and Surgeons or with the Armed Forces Institute of Pathology (AFIP) in Washington, DC. A number of chapters
<h3>Introduction</h3> Solitary asymptomatic nodules in the skin often are given a vague provisional clinical diagnosis such as "sebaceous cyst." Occasionally such a "cyst," when examined histologically, proves to be a … <h3>Introduction</h3> Solitary asymptomatic nodules in the skin often are given a vague provisional clinical diagnosis such as "sebaceous cyst." Occasionally such a "cyst," when examined histologically, proves to be a calcifying epithelioma, a designation not indicating its benign nature. The name has persisted, however, due to the lack of information on the histogenesis. Much of the information about this lesion is from continental Europe, although recently scattered reports have occurred in the English literature. In 1954 Castigliano and Rominger<sup>1</sup>noted that 243 cases had been reported since 1880. Since that time about 60 more have been recorded. In view of the obvious inadequacies of the term "calcifying epithelioma," the name "pilomatrixoma" is suggested. This name may be offensive to the language-purist, but it has the advantage of conveying the histogenesis of the tumor and avoids the use of the word "epithelioma," which generally indicates a malignant tumor. It is
To facilitate the differential diagnosis of poorly differentiated metastatic carcinomas of unknown primary site, we evaluated p63 and cytokeratin (CK) 5/6 as immunohistochemical markers for squamous cell carcinomas. The study … To facilitate the differential diagnosis of poorly differentiated metastatic carcinomas of unknown primary site, we evaluated p63 and cytokeratin (CK) 5/6 as immunohistochemical markers for squamous cell carcinomas. The study cases were as follows: squamous cell carcinoma of the lungs, head/neck, esophagus, cervix uteri, or anal canal, 73; non–squamous cell carcinomas of various primary sites, 141; and urothelial carcinoma, 20. We also tested 14 malignant mesotheliomas. Immunoreactivity for p63 was as follows: squamous cell carcinomas, 59 (81%); urothelial carcinoma, 14 (70%), most often with diffuse staining patterns; non–squamous cell carcinomas, 20 (14.2%), resulting in a specificity of 0.86 of p63 for squamous cell carcinomas. Coexpression of p63 and CK5/6 had a sensitivity of 0.77 and a specificity of 0.96 for squamous cell carcinomas. Increasing the minimal criterion of positive immunostaining for both markers to more than 50% of immunoreactive tumor cells resulted in a specificity of 0.99, although the sensitivity diminished to 0.66. All malignant mesotheliomas were negative for p63. Our data suggest that positive immunostaining for both p63 and CK5/6 in poorly differentiated metastatic carcinomas is highly predictive of a primary tumor of squamous epithelial origin.
PURPOSE: To evaluate the prognostic significance of molecular detection of cytokeratin 19 (CK-19) mRNA-positive cells by nested reverse transcriptase polymerase chain reaction (RT-PCR) in the peripheral blood of women with … PURPOSE: To evaluate the prognostic significance of molecular detection of cytokeratin 19 (CK-19) mRNA-positive cells by nested reverse transcriptase polymerase chain reaction (RT-PCR) in the peripheral blood of women with stages I and II breast cancer before adjuvant chemotherapy. PATIENTS AND METHODS: The sensitivity and specificity of CK-19 mRNA detection by nested RT-PCR were investigated using MCF-7 and ARH-77 cells and blood from healthy women and patients with hematologic malignancies, metastatic colorectal cancer, and early and metastatic breast cancer. Peripheral blood from 148 patients with operable breast cancer, obtained before initiation of any adjuvant therapy, was tested for the presence of CK-19 mRNA-positive cells. RESULTS: The nested RT-PCR assay for CK-19 mRNA detected one MCF-7 tumor cell in 10 6 normal peripheral blood mononuclear cells in four of five experiments; no signal was detected with the CK-19–negative ARH-77 cells. CK-19 mRNA was detected in the peripheral blood of 3.7% of healthy blood donors, 14.3% of patients with hematologic malignancies, and 3.2% of patients with metastatic colorectal cancer. Detection rates for CK-19 mRNA-positive cells in the bone marrow/blood of patients with early or metastatic breast cancer were 63%/30% and 74%/52%, respectively. For stages I and II breast cancer, detection of CK-19–positive cells in the peripheral blood before adjuvant therapy was associated with reduced disease-free interval (P = .0007) and overall survival (P = .01). In multivariate analysis, detection of peripheral-blood CK-19–positive cells was an independent prognostic factor for disease relapse and death. CONCLUSION: Molecular detection of CK-19 mRNA-positive cells by RT-PCR in the peripheral blood of patients with stages I and II breast cancer before initiation of adjuvant therapy has independent prognostic value as a marker of poor clinical outcome.
The Torre or Muir-Torre syndrome consists of certain types of sebaceous neoplasms of the skin, with or without keratoacanthomas, and one or more low-grade visceral malignancies in the absence of … The Torre or Muir-Torre syndrome consists of certain types of sebaceous neoplasms of the skin, with or without keratoacanthomas, and one or more low-grade visceral malignancies in the absence of other predisposing factors. The sebaceous tumors are relatively uncommon or rare: sebaceous adenoma, sebaceous epithelioma, basal cell epithelioma with sebaceous differentiation, and sebaceous carcinoma. Sebaceous hyperplasia and hamartomas such as nevus sebaceus of Jadassohn, with or without a sebaceous epithelioma within it, are not a defining part of this syndrome. Sebaceous hyperplasia is common in elderly light-complexioned people with or without this syndrome. Nevus sebaceus of Jadassohn is not rare and is predisposed to the development of other neoplasms within it, including occasionally a sebaceous epithelioma. Colonic polyps are frequently present. Muir-Torre syndrome requires recognition because affected patients are at risk of multiple primary malignancies. The skin lesions may be the first sign of this syndrome, although more often its cutaneous signs follow the diagnosis of at least the first visceral malignancy. The Muir-Torre syndrome portends the greater possibility of a favorable prognosis than might be anticipated otherwise because the visceral cancers are usually low-grade malignancies. However, they are often multiple, so identifying such patients will affect their management in a few ways. Because these indolent visceral malignancies tend to permit prolonged survival, even metastatic disease may respond well to aggressive surgical treatment. The sebaceous cancers in this syndrome, like the visceral malignancies, are less aggressive than their counterparts unassociated with this syndrome. Because this syndrome is inherited in an autosomal dominant manner, identifying one patient means delineating an entire family, which should be investigated. This syndrome may be caused by a defective mismatch DNA repair gene.
Malignant mixed tumors (carcinosarcomas) are examples of unusual neoplasms whose occurrences have been observed in increasingly diverse sites but whose pathogenesis remains a complete mystery. Two antithetical hypotheses that have … Malignant mixed tumors (carcinosarcomas) are examples of unusual neoplasms whose occurrences have been observed in increasingly diverse sites but whose pathogenesis remains a complete mystery. Two antithetical hypotheses that have been advanced to explain the histogenesis of these tumors include the convergence hypothesis, which proposes an origin from two or more stem cells (multiclonal hypothesis), and the divergence hypothesis, which proposes an origin from a single totipotential stem cell that differentiates into separate epithelial and mesenchymal directions (monoclonal hypothesis). To test these hypotheses, a novel strategy for the determination of clonality from as few as 100 tumor cells obtained by enzymatic digestion of either fresh or formalin-fixed, paraffin-embedded tissues and cell sorting was used that exhibited the polymerase chain reaction (PCR) in amplifying a 511-bp region located within the first intron of the human hypoxanthine phosphoribosyl transferase gene, a site that contains inactive X chromosomal obligately methylated HpaII/MspI sites and single-base allelic polymorphisms in 5% females. Carcinoma cells gated on the basis of fluorescein isothiocyanate (FITC)-anti-cytokeratin and sarcoma cells gated on the basis of FITC-anti-vimentin or FITC-anti-desmin were sorted to homogeneity on FACSTAR and then subjected to genomic DNA extraction and Hpa II digestion before PCR amplification and subsequent analysis of the product on denaturing gradient gel electrophoresis. The comigrations of the single homoduplexes generated from both the carcinoma cells and sarcoma cells in six different malignant mixed tumors obtained from four different organs indicated clonal identity and monoclonality in all cases. These findings of monoclonality were confirmed independently by two other methods of clonality determination. The findings of a monoclonal origin of carcinosarcomas support the single totipotential stem-cell-divergence hypothesis.
Electron-microscopic studies of two typical lesions of eccrine spiradenoma were performed to correlate ultrastructure and histopathology. The salient ultramorphological features of the parenchyma were an adenoid cystic organization composed of … Electron-microscopic studies of two typical lesions of eccrine spiradenoma were performed to correlate ultrastructure and histopathology. The salient ultramorphological features of the parenchyma were an adenoid cystic organization composed of epithelial, myoepithelial, and nonepithelial cell types, and the presence of intracytoplasmic luminae within the epithelial cells. There were no indications that the parenchyma was secretorily active. The stroma ramified through the parenchyma, occupying extensive areas and forming tenuous septa of the loose connective tissue in which blood vessels and nerve fibers were embedded. Profiles of cystoid spaces resulting from invagination of stroma into the parenchyma were frequently encountered. Based on our observations, eccrine spiradenoma appears to differentiate toward ductal structures of eccrine sweat apparatus.
The myoepithelial cells are indeed a fascinating type of cell, in that they appear to belong to two widely divergent types of tissues, namely the epithelium and the mesenchyma. This … The myoepithelial cells are indeed a fascinating type of cell, in that they appear to belong to two widely divergent types of tissues, namely the epithelium and the mesenchyma. This two-sided nature is expressed not only by their position (on the one hand they are connected in typical manner with the secreting epithelium, whereas on the other hand they interact with the stroma and the basal membrane in the same way as smooth muscle fibres), but also by their possession of potentialities of both kinds of tissue, although these potentialities become apparent only under pathological conditions of growth. This concept is the key-note of the following paper, whose purpose is to report a comparative study of the myoepithelia of various organs. Many phenomena that were detectable and detected in only one organ, will be used to elucidate certain otherwise obscure changes in other organs. First we shall examine the normal myoepithelia of various tissues (I), then consider regressive changes (II) and hyperplasia (III), in order to apply the information thus obtained to the problem of tumors (IV, V). To some extent, therefore, this paper constitutes a continuation of my paper from 1939 “On the myothelia of the mammary gland”. Additional material has been collected since then; unfortunately, however, some of the relevant documents were lost during the war and in the post-war period.
Extramammary Paget’s disease (EMPD) is an erratic malignant skin disorder primarily affecting skin areas abundant with skin appendages like hair follicles. The vulva is most involved site, followed by genital … Extramammary Paget’s disease (EMPD) is an erratic malignant skin disorder primarily affecting skin areas abundant with skin appendages like hair follicles. The vulva is most involved site, followed by genital areas, penoscrotal regions and axillary skin. EMPD presents as erythematous skin lesions resembling eczema, typically progressing slowly, either primary or secondary manifestations. Primary EMPD originates as an intraepithelial neoplasm of the epidermis, often leading to local lymph node metastases and distant metastases. A systematic literature search using targeted keywords across multiple databases was conducted. Studies focusing on EMPD, adnexal involvement, depth, recurrence, and prognosis were included by keeping in view the objective which is to determine the significance of adnexal involvement and depth concerning recurrence and prognosis in the primary EMPD. Adnexal involvement, especially in hair follicles and eccrine ducts, is prevalent in primary EMPD. However, its correlation with tumor progression or recurrence rates remains inconclusive. Surgical excision, including Mohs micrographic surgery, is the primary therapeutic approach, with topical agents and systemic treatments used in advanced cases. Future studies regarding understanding adnexal involvement's depth and significance are essential in designing effective targeted therapeutic approaches in EMPD.
Abstract: Ectopic breast tissue is a rare occurrence that has been well-documented along the length of the milk lines. For the most part, ectopic breast is easily recognizable on routine … Abstract: Ectopic breast tissue is a rare occurrence that has been well-documented along the length of the milk lines. For the most part, ectopic breast is easily recognizable on routine histology; however, difficulties may arise when dealing with tumors arising from such tissues, such as adenomas or carcinomas. We report the case of a 29-year-old pregnant woman who presented with a 1.6-cm cystic lesion in her vulva. Surgical excision was performed which showed a well-circumscribed tumor composed of compact tubular structures lined by columnar cells with round nuclei and small nucleoli devoid of mitotic activity. The tubular structures were remarkable for the presence of numerous clear vacuoles in the cytoplasm resulting in a histologic picture that is indistinguishable from so-called “lactating” adenomas of the breast. Immunohistochemical stains demonstrated nuclear positivity of the cells lining the ductules for estrogen and progesterone receptors, GATA3, and cytoplasmic staining for mammaglobin, supporting the breast origin of the tissue. Recognition of this lesion is of importance to avoid misdiagnosis of malignancy.
Abstract: Hidrocystomas and cystadenomas are benign tumors, with malignant transformation being exceptionally rare, most commonly reported in the periocular region. We present a rare case of adenocarcinoma in situ arising … Abstract: Hidrocystomas and cystadenomas are benign tumors, with malignant transformation being exceptionally rare, most commonly reported in the periocular region. We present a rare case of adenocarcinoma in situ arising within an apocrine papillary cystadenoma of the scalp in a 53-year-old man, without an associated nevus sebaceus. Microscopically, the tumor appeared as a predominantly cystic lesion and was located in the deep dermis. The neoplasm was composed of cuboidal to cylindrical cells, displaying decapitation secretion and forming glands, micropapillae, and occasional papillae with fibrovascular cores projecting into the cystic lumen. In addition, a considerable extraluminal proliferation of small, closely packed glands with a visible peripheral layer of myoepithelial cells was evident. Whereas most tumor cells were monomorphic, a focal area exhibited significant cellular atypia and pleomorphism. There were numerous necrotic cells, both isolated and clustered, and frequent mitotic figures, including atypical ones. RNA sequencing was performed using the Archer FusionPlex panel and revealed an HMGA2 fusion transcript of unknown significance. The lesion was surgically removed, and the patient had no evidence of disease 4 months after the diagnosis.
Mammary Paget's disease (MPD), also known as Paget's disease of the breast, is an uncommon dermatological cancer of the nipple-areolar complex that can cause anything from redness and itching to … Mammary Paget's disease (MPD), also known as Paget's disease of the breast, is an uncommon dermatological cancer of the nipple-areolar complex that can cause anything from redness and itching to more serious symptoms like breast lumps, destruction of the nipple-areolar complex, or nipple discharge. It is typically linked to either invasive ductal carcinoma or an underlying ductal carcinoma in situ. MPD can cause delayed diagnosis and improper therapy because it frequently presents as various benign and malignant dermatological disorders, such as eczema, atopic dermatitis, psoriasis, and squamous and basal cell carcinomas. Since only one-third of patients have a palpable lump when they first arrive, MPD should be suspected in patients who are older and have unilateral, persistent lesions. In order to distinguish MPD from other skin illnesses, our review paper highlights the major findings of clinical features and diagnostic workup. It also includes case studies of MPD mimicking other skin conditions. According to a study of the literature, research advises against using mammograms and ultrasounds alone to diagnose MPD, especially when there isn't a palpable lump. This demonstrates that the MRI is a better and more precise imaging method. However, because MRI results can occasionally be negative when there is a biopsy-proven MPD present, any suspicious lesion needs to be biopsied in order to undergo histological and immunohistochemical analysis. This highlights the need for clinicians to explore any suspicious lesion of the nipple or breast using the complete triple evaluation technique to exclude an underlying cancer. It is vital to establish therapeutic criteria to treat any nipple lesion to limit the risk of misdiagnosing any underlying cancer, which can be potentially lethal if left alone.
Jayasree Raman | International Journal of Oral and Maxillofacial Surgery
Adnexal carcinoma and adenosquamous carcinoma are rare forms of skin malignancy that are usually treated via surgical resection or radiotherapy. These cancers become clinically challenging when localized treatment is not … Adnexal carcinoma and adenosquamous carcinoma are rare forms of skin malignancy that are usually treated via surgical resection or radiotherapy. These cancers become clinically challenging when localized treatment is not feasible. In addition, the cosmetic and functional defects resulting from radical surgical resection of tumors in peri-orbital areas need to be considered. The checkpoint inhibitors pembrolizumab and cemiplimab have been effective treatments for a number of cutaneous malignancies. We present cases of adenosquamous skin cancer and eyelid sebaceous gland cancer that achieved rapid, complete pathological and radiological remission in response to treatment with single agent PD-1 monoclonal antibodies. These patients had minimal, if any toxicity associated with treatment and have each remained recurrence-free for over a year of follow up. The therapeutic potential of PD-1 monoclonal antibodies as a treatment for these rare skin malignancies warrants further evaluation in clinical trials.
Trichoblastic carcinoma (TC) is a rare malignant tumor arising from skin adnexal structures, which usually appears without a progenitor lesion. Few TC cases originating from benign lesions have been reported. … Trichoblastic carcinoma (TC) is a rare malignant tumor arising from skin adnexal structures, which usually appears without a progenitor lesion. Few TC cases originating from benign lesions have been reported. This study presents a case of nasal reconstruction with forehead flap of a TC manifesting a decade after the excision of a cylindroma at the identical site. A 64-year-old male presented with a multinodular mass on the right nasal ala, growing for 3 months. Surgical history included a cylindroma excision from the same area 10 years ago. The current lesion was excised and reconstructed with a full-thickness skin graft. After histopathological examination, the patient was diagnosed with TC. Wide re-excision with 7 mm margin and a paramedian forehead flap followed by adjuvant radiotherapy was performed. The patient healed without any complications. In the literature, metachronous presentation of cylindroma and TC has not been reported before. With increasing reports of this disease, it will be possible to understand the disease and form a management consensus.
Bence Paládi | Radiopaedia.org
Objective: Langers axillary arch (LAA) is a muscular slip encountered in the axillary region with various clinical implications. Knowledge about this muscle is important for surgeons because of its proximity … Objective: Langers axillary arch (LAA) is a muscular slip encountered in the axillary region with various clinical implications. Knowledge about this muscle is important for surgeons because of its proximity to various nerves and axillary structures.Material and Methods: In this report, we present a case series of patients in whom the LAA was identified during surgical procedures such as axillary dissection, sentinel lymph node biopsy, breast lumpectomy, and breast conservation surgery. Results: Among the 5 LAA cases identified, 2 were complete and 3 were incomplete. Intraoperatively, all 5 cases were handled well, and prior awareness of this anatomical variation allowed surgeons to identify it immediately, which helped in avoiding any potential complications, both intra- and postoperative. All patients were followed up closely and their post-operative periods were found to be uneventful.Conclusion: LAA was accurately identified and exposed in all patients during surgery to achieve complete axillary clearance. Early recognition and pre-operative knowledge of such an anomaly assisted us in preventing many unwanted surgical and clinical implications.
Aims: Hay–Wells syndrome (ankyloblepharon–ectodermal dysplasia–clefting or AEC syndrome) is a rare autosomal dominant disorder caused by TP63 mutations, classically associated with skin, hair, nail, and craniofacial anomalies. Although hair abnormalities … Aims: Hay–Wells syndrome (ankyloblepharon–ectodermal dysplasia–clefting or AEC syndrome) is a rare autosomal dominant disorder caused by TP63 mutations, classically associated with skin, hair, nail, and craniofacial anomalies. Although hair abnormalities are commonly reported, their trichoscopic features remain largely undocumented. We aim to describe, for the first time, the detailed trichoscopic findings observed in a genetically confirmed case of AEC syndrome and to discuss their diagnostic relevance in differentiating this condition from other genodermatoses with overlapping phenotypes. Presentation of Case: We report the case of a 13-year-old girl with genetically confirmed AEC syndrome who presented with progressive hair thinning and breakage. Clinical examination revealed sparse, coarse hair, partial eyebrow and eyelash loss, and nail abnormalities. Trichoscopic evaluation revealed multiple hair shaft anomalies—including pili torti, pili annulati, pseudo-monilethrix, and trichorrhexis nodosa—as well as scalp changes such as peripilar hyperkeratosis and honeycomb-like pigmentation. While these features are not exclusive to AEC syndrome, their recognition in a suggestive clinical context may support early suspicion and guide further evaluation. Discussion: This is, to our knowledge, the first reported case of AEC syndrome with such a broad trichoscopic characterization. The diversity of findings supports the presence of intrinsic structural hair shaft defects in TP63-related ectodermal dysplasias. Moreover, certain features—such as pili annulati and peripilar hyperkeratosis—not previously described in this context, may offer additional diagnostic value. Conclusion: This case expands the trichoscopic profile of AEC syndrome, supporting the hypothesis of intrinsic follicular structural defects. Trichoscopy may serve as a valuable diagnostic tool in differentiating AEC from other ectodermal dysplasias and in guiding genetic evaluation.
Rhabdomyosarcoma (RMS), a rare pediatric soft tissue sarcoma, seldom involves the external ear. Congenital ichthyosis vulgaris (IV), a genetic disorder causing hyperkeratosis, has not been previously linked to RMS. We … Rhabdomyosarcoma (RMS), a rare pediatric soft tissue sarcoma, seldom involves the external ear. Congenital ichthyosis vulgaris (IV), a genetic disorder causing hyperkeratosis, has not been previously linked to RMS. We report the first case of embryonal RMS with unique extension in a patient with IV. A 13 year-old male with ichthyosis presented with a 1 year history of a progressive lesion in the right intertragic notch, unresponsive to antibiotics and topical therapies. Imaging revealed a mass infiltrating the parotid gland, external auditory canal, and sternocleidomastoid muscle. Wide surgical excision with facial nerve preservation was performed. Histopathology confirmed embryonal RMS. Postoperative chemoradiotherapy was initiated, and metastatic workup showed no dissemination. This case highlights diagnostic challenges in rare RMS locations, particularly when masked by dermatoses like ichthyosis. The association between ichthyosis and RMS remains speculative; potential mechanisms include ichthyosis. Clinicians should maintain a high index of suspicion for malignancy in persistent cutaneous lesions.
Eyelid lesions with apocrine differentiation are uncommon. A retrospective review of 1,920 biopsied sweat gland lesions at a tertiary hospital's ocular pathology laboratory from 2006 to 2024 revealed seven unique … Eyelid lesions with apocrine differentiation are uncommon. A retrospective review of 1,920 biopsied sweat gland lesions at a tertiary hospital's ocular pathology laboratory from 2006 to 2024 revealed seven unique cutaneous eyelid tumors with sweat gland apocrine differentiation. The distinct clinical presentation and histopathologic features of the selected eyelid tumors are described. The lesions were further differentiated based on immunohistochemical analysis. Seven patients were identified with enlarging unilateral eyelid sweat gland lesions. All lesions underwent excisional biopsy and demonstrated unique histopathologic findings of apocrine lesions. Key hallmark features in all lesions included bi- or multi-layered epithelium, decapitation secretion, and eosinophilic pink cytoplasms. However, each lesion also had its own distinct characteristics (e.g. pseudopapillary projections in cystadenoma) that guided in highlighting its benign or malignant apocrine-differentiation. Immunohistochemical staining was helpful in distinguishing the seven lesions as the following: apocrine cystadenoma, syringocystadenoma papilliferum, three tubular apocrine adenomas, and two apocrine adenocarcinoma of the glands of Moll. Lesions were managed with surgical excision. Eyelid sweat gland lesions with apocrine differentiation are less understood. They are frequently misdiagnosed, ranging from a benign chalazion to malignant basal cell carcinoma. If a biopsy reveals malignancy in an apocrine sweat gland lesion, it can be challenging to manage with surgical excision and adequate margins in the eyelid given the limited skin area. Early biopsy and detection of distinguishing histopathologic features can help reduce the growth of the lesion and prevent delayed diagnosis and treatment.
Mai P. Hoang | Cambridge University Press eBooks
ABSTRACT This report describes a case of a 48‐year‐old man who presented with a slowly enlarging lesion on the right lower eyelid that had been present for 8–9 years. The … ABSTRACT This report describes a case of a 48‐year‐old man who presented with a slowly enlarging lesion on the right lower eyelid that had been present for 8–9 years. The skin biopsy revealed an apocrine carcinoma of the eyelid. We discuss the clinical and histopathological differential diagnosis of apocrine carcinoma, along with treatment recommendations for these tumors.
A neoplasia cutânea mais apresentada em caninos é o mastocitoma, que apresenta característica maligna. Suas localizações mais comuns são a região inguinal e membros. Para diagnóstico o padrão ouro é … A neoplasia cutânea mais apresentada em caninos é o mastocitoma, que apresenta característica maligna. Suas localizações mais comuns são a região inguinal e membros. Para diagnóstico o padrão ouro é o exame histopatológico, com o qual pode ser feita a determinação do grau de malignidade da neoplasia possibilitando o delineamento do tratamento e prognóstico. De acordo com o estadiamento do caso, o tratamento deve ser realizado com intervenção cirúrgica, associada ou não à eletroquimioterapia, quimioterapia, radioterapia e corticoides. O objetivo deste estudo é relatar o caso de um cão da raça fox paulistinha, fêmea, de 15 anos, que apresentou um aumento de volume em membro pélvico esquerdo, com característica de aumento e diminuição periódico, observado prurido e lambedura. O exame citológico foi sugestivo de mastocitoma de baixo grau, que junto a exames de imagem e laboratoriais levou a decisão pela excisão cirúrgica por amputação do membro, por apresentar grande adaptação dos pacientes e segurança de margem cirúrgica. Uma vez retirado foi feito o exame histopatológico com diagnóstico de mastocitoma de baixo grau. O tratamento cirúrgico, apesar de agressivo foi a melhor conduta a ser tomada para a resolução e conforto do animal, visto que paciente não apresentou recidiva ou metástase.
Introduction: Secondary extramammary Paget disease (EMPD) is a rare cutaneous malignancy that typically manifests on apocrine-rich skin that originates from an underlying adenocarcinoma. It has a low chance of further … Introduction: Secondary extramammary Paget disease (EMPD) is a rare cutaneous malignancy that typically manifests on apocrine-rich skin that originates from an underlying adenocarcinoma. It has a low chance of further metastasizing and treatment is recommended. Case Presentation: We present a case of an 86-year-old man with a history of bladder carcinoma that was successfully treated and in remission for 4 years, who presents with an asymptomatic rash on the glans penis. Histopathology and immunohistochemistry confirmed secondary EMPD of urothelial origin. Cancer screening was negative and this was declared secondary EMPD without recurrence of primary malignancy. The patient declined surgical and pharmacologic treatment. After 1 year, the lesion spontaneously resolved with no recurrence. Conclusion: Secondary EMPD can present without underlying malignancy and may spontaneously regress. This may be a rare phenomenon when there is no recurrence of underlying malignancy. Treatment decisions should be made in the context of thorough goals of care discussions. Further observation of this phenomenon is required to guide management plans.
Introduction Congenital upper eyelid eversion (CUEE) is a rare condition often presenting bilaterally and linked to anatomical factors or birth trauma. Unilateral cases are exceptionally rare. Case presentation We report … Introduction Congenital upper eyelid eversion (CUEE) is a rare condition often presenting bilaterally and linked to anatomical factors or birth trauma. Unilateral cases are exceptionally rare. Case presentation We report the case of a male newborn with unilateral CUEE, born to non-consanguineous parents. The neonate also presented with caput succedaneum and bilateral clubfoot. Ophthalmic examination revealed severe chemosis of the left eye, with complete eversion of the upper eyelid with exposure of the tarsal plate. Conservative management with saline irrigation, antibiotic and antiseptic drops, and sterile compresses led to resolution within five days. Conclusion This case of unilateral CUEE with clubfoot highlights the importance of early diagnosis and conservative management. Further research is needed to explore the genetic factors behind this rare condition.
O histiocitoma é uma neoplasia cutânea benigna originária das células de Langerhans. O tumor tem prevalência elevada em animais jovens, e embora tenha elevado índice mitótico e rápido crescimento, raramente … O histiocitoma é uma neoplasia cutânea benigna originária das células de Langerhans. O tumor tem prevalência elevada em animais jovens, e embora tenha elevado índice mitótico e rápido crescimento, raramente ocorre metástase. Costuma aparecer em região de cabeça como uma lesão solitária alopécica e eritematosa, podendo ser diagnosticado por meio de exame citológico e histopatológico. Em alguns casos sofrem regressão espontânea, semanas após seu aparecimento, e em razão disto, não são prescritos tratamentos cirúrgicos ou medicamentosos rotineiramente, porém podem ser indicados em casos de lesões persistentes ou recidivantes. O objetivo deste trabalho é relatar um caso de histiocitoma em canino, fêmea da raça Golden Retriever de 7 anos. Apresentou histórico de aparecimento de múltiplos nódulos em orelha direita há 1 ano. Foi realizada excisão cirúrgica e exame histopatológico do tecido, que revelou histiocitoma. Após dois meses o tumor retornou acometendo novamente orelha direita, pálpebra direita, lábio e região temporal. Pela extensão da lesão e caráter recidivante, foi indicada conchectomia. O paciente não apresentou recidiva ou metástases, demonstrando a importância do diagnóstico assertivo para instituir o tratamento adequado para cada caso, aumentando a sobrevida e qualidade de vida dos pacientes.
Los angioqueratomas de Fordyce son lesiones benignas que aparecen principalmente en el escroto, aunque también pueden verse en otras localizaciones, como los labios mayores o el pene. Son dilataciones de … Los angioqueratomas de Fordyce son lesiones benignas que aparecen principalmente en el escroto, aunque también pueden verse en otras localizaciones, como los labios mayores o el pene. Son dilataciones de los vasos sanguíneos de la dermis papilar que están en contacto íntimo con la epidermis, con hiperqueratosis e hiperplasia epidérmica. Se desconoce la etiología. Si existen dudas sobre su diagnóstico, la biopsia es la prueba de referencia. No requiere ningún tratamiento, salvo por motivos estéticos. Presentamos el caso de un hombre que presenta lesiones oscuras localizadas en el escroto de meses de evolución. Palabras clave: angioqueratoma, escroto, terapia por láser.
<title>Abstract</title> Introduction Accessory breast tissue, also known as ectopic or supernumerary breast tissue, is a rare developmental anomaly resulting from incomplete regression of the mammary ridge during embryogenesis. Fibroadenoma is … <title>Abstract</title> Introduction Accessory breast tissue, also known as ectopic or supernumerary breast tissue, is a rare developmental anomaly resulting from incomplete regression of the mammary ridge during embryogenesis. Fibroadenoma is a benign tumor commonly arising in breast tissue but is rarely reported in accessory breast tissue. (1) Case report This case report presents a 22-year-old female with a fibroadenoma in a right axillary accessory breast. The diagnosis was accomplished through clinical examination that revealed an accessory breast that contains a lump, ultrasound imaging supported the diagnosis and surgical excision was successfully performed. Discussion Accessory breast tissue arises due to incomplete regression of the embryonic mammary ridge. It may remain asymptomatic or present with cyclical changes, pain, or a palpable mass. Fibroadenomas are rare in accessory breast tissue and pose diagnostic challenges due to their unusual location.
Malignant chondroid syringoma is a rare cutaneous tumor of mixed epithelial and mesenchymal origin. It is the malignant counterpart of benign chondroid syringoma and has a potential for local invasion … Malignant chondroid syringoma is a rare cutaneous tumor of mixed epithelial and mesenchymal origin. It is the malignant counterpart of benign chondroid syringoma and has a potential for local invasion and distant metastasis, although such progression is extremely uncommon. A 60-year-old Mediterranean man presented with a painful, ulcerative 6-cm lesion on his right scapula, progressively enlarging over one year. Biopsy confirmed malignant chondroid syringoma. Imaging revealed local tissue invasion, pulmonary nodules, bone metastases, and spinal cord compression due to vertebral metastases (T1–T4), leading to lower limb weakness and paralysis. The patient was referred for radiotherapy and neurosurgical evaluation. Malignant chondroid syringoma is difficult to diagnose clinically due to nonspecific features. Histological evaluation, especially with hematoxylin and eosin staining, is essential for accurate diagnosis. Immunohistochemistry may support but does not definitively distinguish malignant from benign forms. Treatment involves wide excision with negative margins; however, adjuvant radiotherapy or chemotherapy may be necessary in metastatic cases. The tumor’s unpredictable behavior necessitates long-term surveillance. This case represents the first report from Africa, and only the second globally, of malignant chondroid syringoma presenting with spinal cord compression. Given its aggressive potential, early diagnosis, complete excision, and long-term follow-up are critical. Radiotherapy may be considered for unresectable or metastatic lesions.
Abstract Introduction: Breast tissue develops during embryogenesis along the milk line, extending from the axilla to the perineum. Although rare, ectopic breast tissue (EBT) can persist anywhere along this line, … Abstract Introduction: Breast tissue develops during embryogenesis along the milk line, extending from the axilla to the perineum. Although rare, ectopic breast tissue (EBT) can persist anywhere along this line, most commonly the axilla. Similar to breast tissue, EBT is influenced by hormonal changes. Benign tumors, particularly fibroadenomas, are the most frequent pathology associated with EBT. Breast cancer (BC) in EBT is uncommon (0.3%-0.6% incidence), mostly affecting axillary EBT. Diagnosis is challenging due to varied differential diagnoses, including skin pathologies. Atypical ductal hyperplasia (ADH) is noncancerous but is classified as a high-risk lesion due to its association with a fivefold increase in BC risk. To our knowledge, ADH of ectopic breast tissue in the vulva has not been previously described in the literature. Case presentation: A 63-year-old postmenopausal woman had a lump in her labia for several years. She had past medical history of endometrial polyps and family history of breast cancer in her mother and in her sister. Upon physical exam, she had a 5mm cystic lesion in the right labia majora. She was evaluated by her gynecologist for endometrial polyps, and she asked to remove the vulvar cystic lesion during the procedure. Pathology of the cystic vulvar lesion revealed EBT with foci of ADH. The mass was immunoreactive for GATA3, estrogen receptors, and progesterone receptors. Myoepithelial cells were identified via p63/SMM staining. The diagnosis of ADH was supported by the pattern of staining for CK5 and estrogen receptors. A stain for PAX8 and ERG was negative. The mass incompletely excised and additional surgery was recommended. Upon re-excision, no residual ADH or EBT were seen. Due to these findings, she was referred to the Breast Cancer Prevention Clinic. The decision was to have updated breast imaging with a mammogram that showed that the breasts were almost entirely fat and no lesions were seen. We also recommended a breast MRI that was also negative. Due to her family history, she had genetic testing that was negative. Her lifetime risk of developing BC was calculated using the Tyrer-Cuzick model and it was less than 20%. For this reason, she was not recommended to have additional breast MRIs. Chemoprevention was discussed with the patient and was not recommended. Discussion: Ectopic mammary tissue found along the embryonic milk lines is rare. It occurs in 0.22%-6% of women most commonly found in the axilla with less frequent occurrences in the vulva. Variability in presentation depends on the degree of breast tissue development along the milk line. Diagnosis requires histological examination, as these tissues may be mistaken for lipomas or malignant lesions. In our case, immunoreactivity for GATA3, estrogen, and progesterone receptors confirmed breast tissue origin, while negative PAX8 and ERG stains ruled out Müllerian and vascular neoplasms, respectively. The etiology of ADH within ectopic tissue remains unclear. There are currently no established guidelines on how to screen, treat, or follow-up patients with atypical lesions in ectopic breast tissue. Our treatment approach was excision of the ADH and EBT, which aligns with the standard of care for ADH in the breast. Since patients with ectopic breast tissue were not included in the chemoprevention trials, we do not recommend chemoprevention in these patients. Conclusion: This case underscores the importance of considering ectopic mammary tissue in vulvar masses and highlights the need for further research to establish management guidelines. Additionally, this report illustrates the value of histological and clinical correlation in indeterminate tumors that are along the mammary line. Citation Format: Yolcar Chamorro, Niloofar Nassseri-Nik, Ana C. Sandoval-Leon. Hidden Challenge: Atypical Ductal Hyperplasia in Vulvar Ectopic Breast Tissue [abstract]. In: Proceedings of the San Antonio Breast Cancer Symposium 2024; 2024 Dec 10-13; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2025;31(12 Suppl):Abstract nr P5-09-21.
Epidermal inclusion cysts are benign lesions that arises from the proliferation and entrapment of epidermal elements within the dermis, characterized by a lining of stratified squamous epithelium and an accumulation … Epidermal inclusion cysts are benign lesions that arises from the proliferation and entrapment of epidermal elements within the dermis, characterized by a lining of stratified squamous epithelium and an accumulation of keratin debris. While epidermal inclusion cysts are commonly located in areas such as the scalp and neck, their occurrence in the breast is rare. In some instances, the cyst can arise in atypical locations, including the nipple and parenchyma. This report presents a 40-year-old female patient who presented with a progressively enlarging lump in the right breast, initially diagnosed as a fibroadenoma through core needle biopsy 2 years after initial presentation. Imaging studies revealed a circumscribed mass, leading to surgical excision. Histopathological examination confirmed the presence of an intraparenchymal epidermal inclusion cyst within the fibroadenoma, a notable finding given its uncommon localization. This report emphasizes the necessity for thorough evaluation of breast masses and highlights the potential for epidermal inclusion cysts to occur in unusual presentations, contributing to the understanding of their pathogenesis and clinical implications in breast health.