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Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia

Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare syndrome described in the literature. Patchy skin hypoplasia is the most evident sign. Hyperpigmentation, hypopigmentation, papillomas, limb defects, and orofacial manifestations have also been reported. A 12-year-old Saudi girl...

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Autores principales: Bin Rubaian, Nouf F, Alghamdi, Nada, Alhaddad, Bayan, AlJanobi, Hawra, Alharbi, Abdulmajeed S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10188288/
https://www.ncbi.nlm.nih.gov/pubmed/37200644
http://dx.doi.org/10.7759/cureus.37661
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author Bin Rubaian, Nouf F
Alghamdi, Nada
Alhaddad, Bayan
AlJanobi, Hawra
Alharbi, Abdulmajeed S
author_facet Bin Rubaian, Nouf F
Alghamdi, Nada
Alhaddad, Bayan
AlJanobi, Hawra
Alharbi, Abdulmajeed S
author_sort Bin Rubaian, Nouf F
collection PubMed
description Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare syndrome described in the literature. Patchy skin hypoplasia is the most evident sign. Hyperpigmentation, hypopigmentation, papillomas, limb defects, and orofacial manifestations have also been reported. A 12-year-old Saudi girl with unremarkable family history presented with FDH. The diagnosis was confirmed using a genetic study. Physical examination revealed asymmetrical streaks of vermiculate dermal atrophy, telangiectasia with hyperpigmentation, and hypopigmentation on the left half of the face, trunk, and bilateral extremities. It appears along Blashko lines. No mental impairment was observed. Intraoral examination generalized plaque-induced gingivitis with erythematous gingival hyperplasia. Examination of the teeth showed generalized enamel hypoplasia with abnormal tooth formations, malalignment, microdontia, spacing and tilting, and minimal caries. As reported cases of FDH are rare worldwide, this syndrome is yet to be fully understood. As the manifestation of the syndrome varies among cases, the management of each case is unique. This emphasizes the importance of reporting cases of FDH.
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spelling pubmed-101882882023-05-17 Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia Bin Rubaian, Nouf F Alghamdi, Nada Alhaddad, Bayan AlJanobi, Hawra Alharbi, Abdulmajeed S Cureus Dermatology Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare syndrome described in the literature. Patchy skin hypoplasia is the most evident sign. Hyperpigmentation, hypopigmentation, papillomas, limb defects, and orofacial manifestations have also been reported. A 12-year-old Saudi girl with unremarkable family history presented with FDH. The diagnosis was confirmed using a genetic study. Physical examination revealed asymmetrical streaks of vermiculate dermal atrophy, telangiectasia with hyperpigmentation, and hypopigmentation on the left half of the face, trunk, and bilateral extremities. It appears along Blashko lines. No mental impairment was observed. Intraoral examination generalized plaque-induced gingivitis with erythematous gingival hyperplasia. Examination of the teeth showed generalized enamel hypoplasia with abnormal tooth formations, malalignment, microdontia, spacing and tilting, and minimal caries. As reported cases of FDH are rare worldwide, this syndrome is yet to be fully understood. As the manifestation of the syndrome varies among cases, the management of each case is unique. This emphasizes the importance of reporting cases of FDH. Cureus 2023-04-16 /pmc/articles/PMC10188288/ /pubmed/37200644 http://dx.doi.org/10.7759/cureus.37661 Text en Copyright © 2023, Bin Rubaian 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
Bin Rubaian, Nouf F
Alghamdi, Nada
Alhaddad, Bayan
AlJanobi, Hawra
Alharbi, Abdulmajeed S
Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
title Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
title_full Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
title_fullStr Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
title_full_unstemmed Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
title_short Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
title_sort focal dermal hypoplasia associated with lymphedema: a case report from saudi arabia
topic Dermatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10188288/
https://www.ncbi.nlm.nih.gov/pubmed/37200644
http://dx.doi.org/10.7759/cureus.37661
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