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Basaloid follicular hamartomas in pediatric Basal Cell Nevus Syndrome: A diagnostic challenge
Author(s) -
Besagni Francesca,
Dika Emi,
Ricci Costantino,
Misciali Cosimo,
Veronesi Giulia,
Corti Barbara,
Gurioli Carlotta,
Neri Iria
Publication year - 2021
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.15892
Subject(s) - hyperkeratosis , basal cell nevus syndrome , pathology , basal cell carcinoma , ptch1 , basal (medicine) , dermatology , medicine , basal cell , biology , genetics , hedgehog signaling pathway , gene , insulin
Basal Cell Nevus Syndrome (BCNS) is an autosomal dominant inherited disease caused by PTCH1 (9q22.3‐q31) germline mutations. Skin manifestations are mainly characterized by hyperkeratosis of the palms and soles, palmoplantar pits and a strong predisposition to develop multiple basal cell carcinomas (BCCs). Recently, it has been hypothesized that basaloid follicular hamartomas (BFH) could be included in BCNS skin features. We present three pediatric cases of GS with BCCs and BFHs. Clinical, dermoscopic and immunohistochemical tools are reported.