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skin fragility-woolly hair syndrome (SFWHS)
Genetics:
- autosomal recessive
- associated with defects in DSP
Clinical manifestations:
- focal & diffuse palmoplantar keratoderma
- hyperkeratotic plaques on the trunk & limbs
- woolly hair
- varying degrees of alopecia
General
genetic disease of the skin (genodermatosis)
Database Correlations
OMIM 607655
References
OMIM :accession 607655