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.
Besagni F., Dika E., Ricci C., Misciali C., Veronesi G., Corti B., et al. (2021). Basaloid follicular hamartomas in pediatric Basal Cell Nevus Syndrome: A diagnostic challenge. JOURNAL OF DERMATOLOGY, 48(7), 1101-1105 [10.1111/1346-8138.15892].
Basaloid follicular hamartomas in pediatric Basal Cell Nevus Syndrome: A diagnostic challenge
Dika E.Secondo
Writing – Original Draft Preparation
;Ricci C.Data Curation
;Veronesi G.Validation
;Gurioli C.Writing – Original Draft Preparation
;Neri I.Ultimo
Supervision
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.| File | Dimensione | Formato | |
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