wooly hair-palmoplantar keratoderma syndrome
Findings
No curated finding names wooly hair-palmoplantar keratoderma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0014492), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- LeukonychiaHPOHP:0001820
- 7 of 7 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 7 of 7 reported patients
- Sparse body hairHPOHP:0002231
- 7 of 7 reported patients
- Sparse eyebrowHPOHP:0045075
- 7 of 7 reported patients
- Sparse eyelashesHPOHP:0000653
- 7 of 7 reported patients
- Sparse scalp hairHPOHP:0002209
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KANK2HGNC:29300
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · G2P · Autosomal recessive · 2025
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: wooly hair-palmoplantar keratoderma syndrome
- Also called
- keratoderma with woolly hair type IVkeratoderma with wooly hair type IVKWWH type IVwoolly hair-palmoplantar hyperkeratosis syndromewooly hair-palmoplantar hyperkeratosis syndrome