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

Francesca Besagni^1,2, Emi Dika^1,2, Costantino Ricci³

¹Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy.

The Journal of Dermatology

|May 22, 2021

Abstract:

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.

Keywords:

Basal Cell Nevus Syndrome PTCH basal cell carcinomas basaloid follicular hamartomas skin

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