The Enigma of Periorificial Desquamating Lesions in a Child

Biotinidase deficiency (BD) is a rare autosomal recessive, vitamin-responsive inborn error of metabolism associated with a wide spectrum of dermatological, neurological, auditory, and metabolic abnormalities. This case report reiterates that a high index of suspicion in childhood diseases with perio...

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Detalles Bibliográficos
Autores principales: Choudhary, Ankita, Pandya, Rutvi M., Joshi, Rima, Shah, Bela J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115314/
https://www.ncbi.nlm.nih.gov/pubmed/37089844
http://dx.doi.org/10.4103/idoj.idoj_322_22
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author Choudhary, Ankita
Pandya, Rutvi M.
Joshi, Rima
Shah, Bela J.
author_facet Choudhary, Ankita
Pandya, Rutvi M.
Joshi, Rima
Shah, Bela J.
author_sort Choudhary, Ankita
collection PubMed
description Biotinidase deficiency (BD) is a rare autosomal recessive, vitamin-responsive inborn error of metabolism associated with a wide spectrum of dermatological, neurological, auditory, and metabolic abnormalities. This case report reiterates that a high index of suspicion in childhood diseases with periorificial desquamation can lead to timely detection and active intervention in BD.
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spelling pubmed-101153142023-04-20 The Enigma of Periorificial Desquamating Lesions in a Child Choudhary, Ankita Pandya, Rutvi M. Joshi, Rima Shah, Bela J. Indian Dermatol Online J Case Report Biotinidase deficiency (BD) is a rare autosomal recessive, vitamin-responsive inborn error of metabolism associated with a wide spectrum of dermatological, neurological, auditory, and metabolic abnormalities. This case report reiterates that a high index of suspicion in childhood diseases with periorificial desquamation can lead to timely detection and active intervention in BD. Wolters Kluwer - Medknow 2022-09-21 /pmc/articles/PMC10115314/ /pubmed/37089844 http://dx.doi.org/10.4103/idoj.idoj_322_22 Text en Copyright: © 2022 Indian Dermatology Online Journal https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Choudhary, Ankita
Pandya, Rutvi M.
Joshi, Rima
Shah, Bela J.
The Enigma of Periorificial Desquamating Lesions in a Child
title The Enigma of Periorificial Desquamating Lesions in a Child
title_full The Enigma of Periorificial Desquamating Lesions in a Child
title_fullStr The Enigma of Periorificial Desquamating Lesions in a Child
title_full_unstemmed The Enigma of Periorificial Desquamating Lesions in a Child
title_short The Enigma of Periorificial Desquamating Lesions in a Child
title_sort enigma of periorificial desquamating lesions in a child
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115314/
https://www.ncbi.nlm.nih.gov/pubmed/37089844
http://dx.doi.org/10.4103/idoj.idoj_322_22
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