Focal Dermal Hypoplasia

Common Name(s)

Focal Dermal Hypoplasia

Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. Most individuals with this condition are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. This condition is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no history of the disorder in their family. When focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Focal Dermal Hypoplasia" for support, advocacy or research.

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

Last Updated: 7 May 2014

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Focal Dermal Hypoplasia" for support, advocacy or research.

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

http://www.nfed.org

Last Updated: 7 May 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Focal Dermal Hypoplasia" returned 14 free, full-text research articles on human participants. First 3 results:

A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene.
 

Author(s): Masayuki Asano, Taku Fujimura, Chihiro Wakusawa, Yoko Aoki, Yoichi Matsubara, Setsuya Aiba

Journal: Acta Derm. Venereol.. 2013 Jan;93(1):120-1.

 

Last Updated: 10 Jan 2013

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Cutaneous atrophic guttate lesions in a linear and reticulate pattern: a quiz. Diagnosis: Focal dermal hypoplasia (Goltz syndrome).
 

Author(s): Maria Lentini, Donatella Greco, Carmelo Schepis

Journal: Acta Derm. Venereol.. 2013 Jan;93(1):124, 126.

 

Last Updated: 10 Jan 2013

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Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).
 

Author(s): Wei Liu, Timothy M Shaver, Alfred Balasa, M Cecilia Ljungberg, Xiaoling Wang, Shu Wen, Hoang Nguyen, Ignatia B Van den Veyver

Journal: PLoS ONE. 2012 ;7(3):e32331.

 

Focal Dermal Hypoplasia (FDH) is a genetic disorder characterized by developmental defects in skin, skeleton and ectodermal appendages. FDH is caused by dominant loss-of-function mutations in X-linked PORCN. PORCN orthologues in Drosophila and mice encode endoplasmic reticulum proteins ...

Last Updated: 13 Mar 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Focal Dermal Hypoplasia" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Selected X-linked Disorders: Goltz Syndrome
 

Status: Recruiting

Condition Summary: Focal Dermal Hypoplasia (FDH); Goltz Syndrome; X Linked Disorders

 

Last Updated: 23 Jun 2011

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