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Focal Dermal Hypoplasia: Case Series

BACKGROUND: Focal dermal hypoplasia (Goltz syndrome) is a genetic multisystem disorder characterized primarily by involvement of the skin associated to face, skeletal, and eyes anomalies. The objective of the present series is to shed light on this rare syndrome and these atypical manifestations. ME...

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Autores principales: Mansouri, Maria, Bouzid, Fatima Zohra, Amal, Said., Hocar, Oufae, Aboussair, Nissrine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162763/
https://www.ncbi.nlm.nih.gov/pubmed/37151234
http://dx.doi.org/10.4103/ijd.ijd_508_22
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author Mansouri, Maria
Bouzid, Fatima Zohra
Amal, Said.
Hocar, Oufae
Aboussair, Nissrine
author_facet Mansouri, Maria
Bouzid, Fatima Zohra
Amal, Said.
Hocar, Oufae
Aboussair, Nissrine
author_sort Mansouri, Maria
collection PubMed
description BACKGROUND: Focal dermal hypoplasia (Goltz syndrome) is a genetic multisystem disorder characterized primarily by involvement of the skin associated to face, skeletal, and eyes anomalies. The objective of the present series is to shed light on this rare syndrome and these atypical manifestations. METHODOLOGY: Our study reports the case of five Moroccan patients who present typical clinical picture of the Goltz syndrome with some rare manifestations. RESULTS: A total of 5 patients with Goltz syndrome were evaluated. All of them are female with one familial case. The age ranged from 8 months to 35 years. A characteristic Blaschkoid hypo- and hyper-pigmented skin lesions, congenital nodular fat herniation, and skin atrophy were present in all patients. Ocular manifestations were present in 80% of patients. Cranio-facial deformity was seen in 80% of patients. Short stature and intellectual delay were documented in 80% and 40% of patients, respectively. Limb abnormality was found in all patients. Two patients had a cleft lip, one of which unusual lateral facial cleft. LIMITATIONS: Genetic testing could not be performed in the present series. CONCLUSIONS: Through this work we will discuss the different clinical signs and genetic aspects of Goltz syndrome and the interest of a good clinical expertise.
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spelling pubmed-101627632023-05-06 Focal Dermal Hypoplasia: Case Series Mansouri, Maria Bouzid, Fatima Zohra Amal, Said. Hocar, Oufae Aboussair, Nissrine Indian J Dermatol Case Series BACKGROUND: Focal dermal hypoplasia (Goltz syndrome) is a genetic multisystem disorder characterized primarily by involvement of the skin associated to face, skeletal, and eyes anomalies. The objective of the present series is to shed light on this rare syndrome and these atypical manifestations. METHODOLOGY: Our study reports the case of five Moroccan patients who present typical clinical picture of the Goltz syndrome with some rare manifestations. RESULTS: A total of 5 patients with Goltz syndrome were evaluated. All of them are female with one familial case. The age ranged from 8 months to 35 years. A characteristic Blaschkoid hypo- and hyper-pigmented skin lesions, congenital nodular fat herniation, and skin atrophy were present in all patients. Ocular manifestations were present in 80% of patients. Cranio-facial deformity was seen in 80% of patients. Short stature and intellectual delay were documented in 80% and 40% of patients, respectively. Limb abnormality was found in all patients. Two patients had a cleft lip, one of which unusual lateral facial cleft. LIMITATIONS: Genetic testing could not be performed in the present series. CONCLUSIONS: Through this work we will discuss the different clinical signs and genetic aspects of Goltz syndrome and the interest of a good clinical expertise. Wolters Kluwer - Medknow 2023 /pmc/articles/PMC10162763/ /pubmed/37151234 http://dx.doi.org/10.4103/ijd.ijd_508_22 Text en Copyright: © 2023 Indian Journal of Dermatology 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 Series
Mansouri, Maria
Bouzid, Fatima Zohra
Amal, Said.
Hocar, Oufae
Aboussair, Nissrine
Focal Dermal Hypoplasia: Case Series
title Focal Dermal Hypoplasia: Case Series
title_full Focal Dermal Hypoplasia: Case Series
title_fullStr Focal Dermal Hypoplasia: Case Series
title_full_unstemmed Focal Dermal Hypoplasia: Case Series
title_short Focal Dermal Hypoplasia: Case Series
title_sort focal dermal hypoplasia: case series
topic Case Series
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162763/
https://www.ncbi.nlm.nih.gov/pubmed/37151234
http://dx.doi.org/10.4103/ijd.ijd_508_22
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