Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non‐erythrocytic 1 mutation

Lanosterol synthase is required for cholesterol synthesis, and deficiencies have been associated with hypotrichosis as well as neuroectodermal syndromes including intellectual delay and epilepsy. Here, we report a case of lanosterol synthase deficiency in a 4‐day‐old patient who presented with alope...

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Detalles Bibliográficos
Autores principales: Xiao, Teresa L., Rosenblatt, Adena E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10084297/
https://www.ncbi.nlm.nih.gov/pubmed/35830358
http://dx.doi.org/10.1111/pde.15064
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author Xiao, Teresa L.
Rosenblatt, Adena E.
author_facet Xiao, Teresa L.
Rosenblatt, Adena E.
author_sort Xiao, Teresa L.
collection PubMed
description Lanosterol synthase is required for cholesterol synthesis, and deficiencies have been associated with hypotrichosis as well as neuroectodermal syndromes including intellectual delay and epilepsy. Here, we report a case of lanosterol synthase deficiency in a 4‐day‐old patient who presented with alopecia and a previously unreported dermatologic manifestation of congenital localized hyperpigmentation.
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spelling pubmed-100842972023-04-11 Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non‐erythrocytic 1 mutation Xiao, Teresa L. Rosenblatt, Adena E. Pediatr Dermatol Brief Reports Lanosterol synthase is required for cholesterol synthesis, and deficiencies have been associated with hypotrichosis as well as neuroectodermal syndromes including intellectual delay and epilepsy. Here, we report a case of lanosterol synthase deficiency in a 4‐day‐old patient who presented with alopecia and a previously unreported dermatologic manifestation of congenital localized hyperpigmentation. John Wiley and Sons Inc. 2022-07-13 2022 /pmc/articles/PMC10084297/ /pubmed/35830358 http://dx.doi.org/10.1111/pde.15064 Text en © 2022 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Brief Reports
Xiao, Teresa L.
Rosenblatt, Adena E.
Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non‐erythrocytic 1 mutation
title Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non‐erythrocytic 1 mutation
title_full Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non‐erythrocytic 1 mutation
title_fullStr Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non‐erythrocytic 1 mutation
title_full_unstemmed Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non‐erythrocytic 1 mutation
title_short Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non‐erythrocytic 1 mutation
title_sort alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and spectrin alpha, non‐erythrocytic 1 mutation
topic Brief Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10084297/
https://www.ncbi.nlm.nih.gov/pubmed/35830358
http://dx.doi.org/10.1111/pde.15064
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