-
Familial Cancer Apr 2023A subset of patients with Lynch Syndrome demonstrates cutaneous manifestations of the disorder. Characterization of these Lynch-related skin lesions could help in early... (Review)
Review
A subset of patients with Lynch Syndrome demonstrates cutaneous manifestations of the disorder. Characterization of these Lynch-related skin lesions could help in early recognition of patients with Lynch Syndrome. A broad search of the literature on OVID Medline and Embase was carried out to capture papers reporting cutaneous manifestations in Lynch Syndrome patients. The results were uploaded into Mendeley reference management software. The PRISMA workflow was used in the literature selection process. In this systematic review, data were collected from 961 cases from 413 studies, including 380 molecularly confirmed Lynch Syndrome cases. The main skin lesions were: Sebaceous adenomas (43%), sebaceous carcinomas (27%), keratoacanthomas (16%), sebaceomas (13%), squamous cell carcinomas (23%), and basal cell carcinomas (10%). MSH2 variants were the most common underlying genotype (72%). Assessment of mismatch repair by immunohistochemistry, microsatellite instability analysis, or both were performed on 328 skin lesions from 220 (58%) molecularly confirmed cases. In those skin lesions, 95% of Immunohistochemistry and 90% of the microsatellite instability test results were concordant with the underlying genotype. Sebaceous skin lesions are well-recognised phenotypic features of Lynch Syndrome. Our results show that squamous and basal cell carcinomas are relatively common in patients with Lynch syndrome; however, available evidence cannot confirm that Lynch syndrome is causal. Immunohistochemistry and/or microsatellite instability testing of skin tumours in patients with a family history of Lynch Syndrome-associated cancers may be a useful approach in identifying patients requiring referral to Clinical Genetics and/or consideration of germline genetic testing for Lynch Syndrome.
Topics: Humans; Muir-Torre Syndrome; Microsatellite Instability; Sebaceous Gland Neoplasms; Genotype; Carcinoma, Basal Cell; MutS Homolog 2 Protein
PubMed: 36418753
DOI: 10.1007/s10689-022-00319-8 -
Journal of the European Academy of... Sep 2022Cutaneous adnexal tumours (ATs) encompass a variegated group of hamartomas and benign or malignant tumours, originating from the hair follicle, sebaceous, eccrine or... (Review)
Review
Cutaneous adnexal tumours (ATs) encompass a variegated group of hamartomas and benign or malignant tumours, originating from the hair follicle, sebaceous, eccrine or apocrine glands that may simulate other cutaneous neoplasms. This study aims to provide a comprehensive overview of the spectrum of clinical and dermoscopic features of ATs, to better define these lesions and assist in the differential diagnosis. We performed a two-step systematic search of the literature in PubMed, Embase and Cochrane Library databases from inception until 4 September 2020. In the first step, we aimed to define histological variants of ATs with descriptions of dermoscopic criteria. The second step included a search for the name of each previously identified AT variants in the same databases adding 'AND (epilum* or dermosc* or dermatosc*)'. All study types in English language reporting dermoscopic images of ATs were included. Collisions between ATs and other inflammatory or neoplastic skin lesions were excluded, with the exception of collisions with a sebaceous nevus. The protocol of this study was prospectively registered in PROSPERO (CRD42021244677). In total, 206 articles met our inclusion criteria, encompassing 372 ATs in 365 patients. Most ATs were apocrine-eccrine (n = 217, 58.3%, n = 173 benign) with a prevalence of poromas (n = 82), followed by follicular ATs (n = 88, 23.7%, n = 83 benign) and sebaceous ATs (n = 67, 18.0%, n = 49 benign). Most patients had a single AT lesion (320, 86.0%), while 42 (11.3%) had multiple ATs. A syndrome causing multiple ATs was identified in 15 patients. Histopathological analysis revealed 82% benign (n = 305) and 18.0% malignant (n = 67). ATs were classified according to their ability to mimic four groups of more common skin tumours: basal cell carcinoma, squamous cell carcinoma, melanocytic lesions and benign cutaneous lesions. Moreover, we have highlighted the ability of malignant variants of ATs to simulate benign skin lesions. This systematic review offers a comprehensive overview of the common clinical and dermoscopic features of follicular, sebaceous and apocrine-eccrine ATs and details possible differential dermoscopic features.
Topics: Carcinoma, Basal Cell; Dermoscopy; Humans; Nevus, Sebaceous of Jadassohn; Skin Neoplasms; Sweat Gland Neoplasms
PubMed: 35536546
DOI: 10.1111/jdv.18210 -
Journal of Maxillofacial and Oral... Mar 2015Sebaceous carcinoma (SC) is a rare adnexal tumor. Extra-ocular, facial SC is very uncommon and local metastases are an extreme rare finding. A respective case is...
PURPOSE
Sebaceous carcinoma (SC) is a rare adnexal tumor. Extra-ocular, facial SC is very uncommon and local metastases are an extreme rare finding. A respective case is presented and discussed together with the current literature.
CASE AND REVIEW
A tumor of the left ear of an 87-old male was primary excised together with multiple suspicious lesions of the head and neck. Most specimens were histopathologically rated as squamous cell carcinomas (SCC). Despite the in-sano resection, additional new suspicious retro-auricular and temporal lesions were detected. Successive resections were diagnosed as basal cell carcinomas (BCC) and, because of a non-in-sano resection in a third approach, as SC. After reappraisal and immunhistochemical staining [epithelial membrane antigen (EMA), CK 5-6 and CD 15], most of the former specimens turned out to be SC as well. A literature search showed 3 reported cases of extra-ocular head and neck SC with cutaneous local metastases. In another review, in a total of 168 cases, SC was diagnosed after wrong initial histological diagnosis (SCC n = 56, BCC n = 44; other entity or precursors of carcinomas n = 68).
CONCLUSION
Due to inconsistent histologic patterns, histopathological misdiagnosis of the uncommon facial SC and its metastases may complicate further therapy, prolong treatment and may lead to a worse prognosis of this neoplasm. A close interdisciplinary collaboration of clinician, surgeon and pathologist is of most relevance for the right diagnosis.
PubMed: 25861193
DOI: 10.1007/s12663-013-0547-y