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Focal Dermal Hypoplasia: A Rare Case Report
Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomal...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2015
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318042/ https://www.ncbi.nlm.nih.gov/pubmed/25657436 http://dx.doi.org/10.4103/0019-5154.147876 |
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author | Srinivas, Sahana M Hiremagalore, Ravi |
author_facet | Srinivas, Sahana M Hiremagalore, Ravi |
author_sort | Srinivas, Sahana M |
collection | PubMed |
description | Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome. |
format | Online Article Text |
id | pubmed-4318042 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-43180422015-02-05 Focal Dermal Hypoplasia: A Rare Case Report Srinivas, Sahana M Hiremagalore, Ravi Indian J Dermatol E-IJD Case Report Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4318042/ /pubmed/25657436 http://dx.doi.org/10.4103/0019-5154.147876 Text en Copyright: © Indian Journal of Dermatology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | E-IJD Case Report Srinivas, Sahana M Hiremagalore, Ravi Focal Dermal Hypoplasia: A Rare Case Report |
title | Focal Dermal Hypoplasia: A Rare Case Report |
title_full | Focal Dermal Hypoplasia: A Rare Case Report |
title_fullStr | Focal Dermal Hypoplasia: A Rare Case Report |
title_full_unstemmed | Focal Dermal Hypoplasia: A Rare Case Report |
title_short | Focal Dermal Hypoplasia: A Rare Case Report |
title_sort | focal dermal hypoplasia: a rare case report |
topic | E-IJD Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318042/ https://www.ncbi.nlm.nih.gov/pubmed/25657436 http://dx.doi.org/10.4103/0019-5154.147876 |
work_keys_str_mv | AT srinivassahanam focaldermalhypoplasiaararecasereport AT hiremagaloreravi focaldermalhypoplasiaararecasereport |