Details of Disease

General Information of Disease (ID: DISVR3QA)

• Disease Name: Wooly hair-palmoplantar keratoderma syndrome
• Synonyms: palmoplantar keratoderma and woolly hair; palmoplantar keratoderma and wooly hair; PPKWH; keratoderma with woolly hair type IV; KWWH type IV; wooly hair-palmoplantar hyperkeratosis syndrome; woolly hair-palmoplantar hyperkeratosis syndrome; keratoderma with wooly hair type IV
• Definition: Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.
• Disease Hierarchy:
  DISGLKBI: Focal palmoplantar keratoderma
  DISVR3QA: Wooly hair-palmoplantar keratoderma syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014492
  UMLS CUI: C4015202
  OMIM ID: 616099
  MedGen ID: 863639
  Orphanet ID: 420686

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KANK2	OT3SZIWM	Supportive	Autosomal recessive	[1]
DSC2	OTODVH8K	Strong	Genetic Variation	[2]

References

• [1] Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. J Med Genet. 2014 Jun;51(6):388-94. doi: 10.1136/jmedgenet-2014-102346. Epub 2014 Mar 26.
• [2] Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology. 2009;113(1):28-34. doi: 10.1159/000165696. Epub 2008 Oct 29.