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

Francesca Besagni; Emi Dika; Costantino Ricci; Cosimo Misciali; Giulia Veronesi; Barbara Corti; Carlotta Gurioli; Iria Neri

doi:10.1111/1346-8138.15892

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

J Dermatol. 2021 Jul;48(7):1101-1105. doi: 10.1111/1346-8138.15892. Epub 2021 May 21.

Authors

Francesca Besagni^{1

2}, Emi Dika^{1

2}, Costantino Ricci³, Cosimo Misciali^{1

2}, Giulia Veronesi^{1

2}, Barbara Corti⁴, Carlotta Gurioli^{1

2}, Iria Neri^{1

2}

Affiliations

¹ Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy.
² Dermatology Unit, IRCCS of Azienda Ospedaliero-Universitaria Policlinico Sant'Orsola Hospital, Bologna, Italy.
³ Pathology Unit, Ospedale Maggiore, Bologna, Italy.
⁴ Pathology Unit, S.Orsola Malpighi Hospital, Bologna University, Bologna, Italy.

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.

MeSH terms

Basal Cell Nevus Syndrome*
Carcinoma, Basal Cell*
Child
Hamartoma*
Humans
Patched-1 Receptor
Skin Neoplasms*

Substances

Patched-1 Receptor