2021 The Journal of dermatology

Basaloid follicular hamartomas in pediatric Basal Cell Nevus Syndrome: A diagnostic challenge.

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The Journal of dermatology Vol. 48 (7) : 1101-1105 • Jul 2021

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.

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