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

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...

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Autores principales: Besagni, Francesca, Dika, Emi, Ricci, Costantino, Misciali, Cosimo, Veronesi, Giulia, Corti, Barbara, Gurioli, Carlotta, Neri, Iria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362058/
https://www.ncbi.nlm.nih.gov/pubmed/34021633
http://dx.doi.org/10.1111/1346-8138.15892
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author Besagni, Francesca
Dika, Emi
Ricci, Costantino
Misciali, Cosimo
Veronesi, Giulia
Corti, Barbara
Gurioli, Carlotta
Neri, Iria
author_facet Besagni, Francesca
Dika, Emi
Ricci, Costantino
Misciali, Cosimo
Veronesi, Giulia
Corti, Barbara
Gurioli, Carlotta
Neri, Iria
author_sort Besagni, Francesca
collection PubMed
description 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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spelling pubmed-83620582021-08-17 Basaloid follicular hamartomas in pediatric Basal Cell Nevus Syndrome: A diagnostic challenge Besagni, Francesca Dika, Emi Ricci, Costantino Misciali, Cosimo Veronesi, Giulia Corti, Barbara Gurioli, Carlotta Neri, Iria J Dermatol Concise Communications 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. John Wiley and Sons Inc. 2021-05-21 2021-07 /pmc/articles/PMC8362058/ /pubmed/34021633 http://dx.doi.org/10.1111/1346-8138.15892 Text en © 2021 The Authors. The Journal of Dermatology published by John Wiley & Sons Australia, Ltd on behalf of Japanese Dermatological Association. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Concise Communications
Besagni, Francesca
Dika, Emi
Ricci, Costantino
Misciali, Cosimo
Veronesi, Giulia
Corti, Barbara
Gurioli, Carlotta
Neri, Iria
Basaloid follicular hamartomas in pediatric Basal Cell Nevus Syndrome: A diagnostic challenge
title Basaloid follicular hamartomas in pediatric Basal Cell Nevus Syndrome: A diagnostic challenge
title_full Basaloid follicular hamartomas in pediatric Basal Cell Nevus Syndrome: A diagnostic challenge
title_fullStr Basaloid follicular hamartomas in pediatric Basal Cell Nevus Syndrome: A diagnostic challenge
title_full_unstemmed Basaloid follicular hamartomas in pediatric Basal Cell Nevus Syndrome: A diagnostic challenge
title_short Basaloid follicular hamartomas in pediatric Basal Cell Nevus Syndrome: A diagnostic challenge
title_sort basaloid follicular hamartomas in pediatric basal cell nevus syndrome: a diagnostic challenge
topic Concise Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362058/
https://www.ncbi.nlm.nih.gov/pubmed/34021633
http://dx.doi.org/10.1111/1346-8138.15892
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