arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Findings
No curated finding names arrhythmogenic cardiomyopathy with wooly hair and keratoderma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.
Definition from the Mondo Disease Ontology (MONDO:0011581), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Death in adolescence · Death in early adulthood
HPO, annotations 2026-09-02
Features
19 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.
- Abnormal blistering of the skinHPOHP:0008066
- 2 of 2 reported patients · Congenital onset
- AcantholysisHPOHP:0100792
- 2 of 2 reported patients
- Fragile skinHPOHP:0001030
- 2 of 2 reported patients
- Palmoplantar keratodermaHPO · MondoHP:0000982
- 12 of 12 reported patients
- Woolly hairHPO · MondoHP:0002224
- 13 of 14 reported patients
- 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.
- DSPHGNC:3052
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
12 names
Resolves to: arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Also called
- Carvajal syndromeDCWHKdilated cardiomyopathy with wooly hair and keratodermakeratoderma with woolly hair type IIkeratoderma with wooly hair type IIKWWH type IIpalmoplantar keratoderma with left ventricular cardiomyopathy and woolly hairpalmoplantar keratoderma with left ventricular cardiomyopathy and wooly hairwoolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndromewoolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndromewooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndromewooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome