autosomal recessive palmoplantar keratoderma and congenital alopecia
Findings
No curated finding names autosomal recessive palmoplantar keratoderma and congenital alopecia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.
Definition from the Mondo Disease Ontology (MONDO:0008923), read 2026-09-29. CC BY 4.0.
Features
10 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.
- Alopecia totalisHPOHP:0007418
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Very frequent (80% to 99% of cases)
- Atypical scarring of skinHPOHP:0000987
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Lack of skin elasticityHPOHP:0100679
- Very frequent (80% to 99% of cases)
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.
- LSSHGNC:6708
- Limited · G2P · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: autosomal recessive palmoplantar keratoderma and congenital alopecia
- Also called
- autosomal recessive palmoplantar hyperkeratosis and congenital alopeciacataract-alopecia-sclerodactyly syndromepalmoplantar keratoderma and congenital alopecia type 2palmoplantar keratoderma and congenital alopecia, Wallis typePPK-CA, Wallis type