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

More general terms

• genetic disease of the skin (genodermatosis)

Database

• OMIM: https://mirror.omim.org/entry/607655