Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering

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Name:
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Description:
A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.
ORPHAcode:
402003
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14