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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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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. |
format | Online Article Text |
id | pubmed-8362058 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
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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