Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report

Atrichia with papular lesions (APL) is a rare form of alopecia characterized by the diffuse, complete, irreversible loss of hair shortly after birth and the presence of diffuse keratotic papules and milia-like cysts. Multiple hairless gene (HR) mutations on the zinc finger domain of chromosome 8p12...

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Detalles Bibliográficos
Autores principales: Boisen, Julie, Lewis, Jade, Hendrick, Sophia J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Dermatology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9840447/
https://www.ncbi.nlm.nih.gov/pubmed/36654554
http://dx.doi.org/10.7759/cureus.32562
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author Boisen, Julie
Lewis, Jade
Hendrick, Sophia J
author_facet Boisen, Julie
Lewis, Jade
Hendrick, Sophia J
author_sort Boisen, Julie
collection PubMed
description Atrichia with papular lesions (APL) is a rare form of alopecia characterized by the diffuse, complete, irreversible loss of hair shortly after birth and the presence of diffuse keratotic papules and milia-like cysts. Multiple hairless gene (HR) mutations on the zinc finger domain of chromosome 8p12 have been associated with this disorder. We present the case of a 5-year-old girl with classic clinical findings of APL, with a diagnosis confirmed via genetic testing.
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spelling pubmed-98404472023-01-17 Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report Boisen, Julie Lewis, Jade Hendrick, Sophia J Cureus Dermatology Atrichia with papular lesions (APL) is a rare form of alopecia characterized by the diffuse, complete, irreversible loss of hair shortly after birth and the presence of diffuse keratotic papules and milia-like cysts. Multiple hairless gene (HR) mutations on the zinc finger domain of chromosome 8p12 have been associated with this disorder. We present the case of a 5-year-old girl with classic clinical findings of APL, with a diagnosis confirmed via genetic testing. Cureus 2022-12-15 /pmc/articles/PMC9840447/ /pubmed/36654554 http://dx.doi.org/10.7759/cureus.32562 Text en Copyright © 2022, Boisen et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Dermatology
Boisen, Julie
Lewis, Jade
Hendrick, Sophia J
Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
title Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
title_full Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
title_fullStr Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
title_full_unstemmed Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
title_short Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
title_sort atrichia with papular lesions confirmed via genetic testing: a case report
topic Dermatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9840447/
https://www.ncbi.nlm.nih.gov/pubmed/36654554
http://dx.doi.org/10.7759/cureus.32562
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