Epidermolytic palmoplantar keratoderma, 1
Epidermolytic palmoplantar keratoderma, 1
Definition
A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.
Also known as diffuse erythrodermic palmoplantar keratoderma, VC6rner type, diffuse erythrodermic palmoplantar keratoderma, Voerner type, epidermolytic palmoplantar keratoderma of VC6rner, epidermolytic palmoplantar keratoderma of Voerner, EPPK — per MONDO
Also identified as
- DOID 0070552 per MONDO
- ICD9 757.39 per MONDO
- NCIT C84693 per MONDO
- OMIM 144200 per MONDO
- Orphanet 2199 per MONDO
- SCTID 399955009 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Integumental system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Skin of body | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |