Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Synonyms: Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
A rare genetic ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma woolly hair with variable alopecia hyperkeratotic nail dysplasia diffuse or focal palmoplantar keratoderma with painful fissuring and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Skin fragility-woolly hair-palmoplantar keratoderma syndrome?
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Advocacy Organizations
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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