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Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature

Focal dermal hypoplasia (FDH) is a rare inherited genodermatosis with an X-linked dominant trait. FDH is associated with skin defects and other abnormalities of bone, nails, hair, limbs, teeth and eyes. We present the case of a 26-year-old female in the 27th pregnancy week and a previous history of...

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Autores principales: Lopez-Porras, Rocío F., Arroyo, Carlos, Soto-Vega, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3177835/
https://www.ncbi.nlm.nih.gov/pubmed/21941481
http://dx.doi.org/10.1159/000330733
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author Lopez-Porras, Rocío F.
Arroyo, Carlos
Soto-Vega, Elena
author_facet Lopez-Porras, Rocío F.
Arroyo, Carlos
Soto-Vega, Elena
author_sort Lopez-Porras, Rocío F.
collection PubMed
description Focal dermal hypoplasia (FDH) is a rare inherited genodermatosis with an X-linked dominant trait. FDH is associated with skin defects and other abnormalities of bone, nails, hair, limbs, teeth and eyes. We present the case of a 26-year-old female in the 27th pregnancy week and a previous history of miscarriage. After careful physical examination and dermal biopsy, histopathology revealed that the patient was a carrier of FDH. This is the first report in the literature describing that FDH is associated with uterus bicornis and renal ectopia. Our association could be attributable to early embryonic abnormalities related with FDH because both the uterus bicornis and the renal ectopia originate around the 3th-6th week of embryonic development. We are unable to confirm that the miscarriages were caused by inherited FDH or that uterus bicornis was the cause. We conducted a literature review using the following terms: FDH, Goltz syndrome, uterus bicornis, and renal ectopia.
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spelling pubmed-31778352011-09-22 Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature Lopez-Porras, Rocío F. Arroyo, Carlos Soto-Vega, Elena Case Rep Dermatol Published: August 2011 Focal dermal hypoplasia (FDH) is a rare inherited genodermatosis with an X-linked dominant trait. FDH is associated with skin defects and other abnormalities of bone, nails, hair, limbs, teeth and eyes. We present the case of a 26-year-old female in the 27th pregnancy week and a previous history of miscarriage. After careful physical examination and dermal biopsy, histopathology revealed that the patient was a carrier of FDH. This is the first report in the literature describing that FDH is associated with uterus bicornis and renal ectopia. Our association could be attributable to early embryonic abnormalities related with FDH because both the uterus bicornis and the renal ectopia originate around the 3th-6th week of embryonic development. We are unable to confirm that the miscarriages were caused by inherited FDH or that uterus bicornis was the cause. We conducted a literature review using the following terms: FDH, Goltz syndrome, uterus bicornis, and renal ectopia. S. Karger AG 2011-08-12 /pmc/articles/PMC3177835/ /pubmed/21941481 http://dx.doi.org/10.1159/000330733 Text en Copyright © 2011 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial-No-Derivative-Works License (http://creativecommons.org/licenses/by-nc-nd/3.0/). Users may download, print and share this work on the Internet for noncommercial purposes only, provided the original work is properly cited, and a link to the original work on http://www.karger.com and the terms of this license are included in any shared versions.
spellingShingle Published: August 2011
Lopez-Porras, Rocío F.
Arroyo, Carlos
Soto-Vega, Elena
Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature
title Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature
title_full Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature
title_fullStr Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature
title_full_unstemmed Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature
title_short Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature
title_sort focal dermal hypoplasia with uterus bicornis and renal ectopia: case report and review of the literature
topic Published: August 2011
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3177835/
https://www.ncbi.nlm.nih.gov/pubmed/21941481
http://dx.doi.org/10.1159/000330733
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