Conditions / Genetic
erythrokeratodermia variabilis et progressiva 5
info · Genetic
An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13.
Signs and symptoms
- Joint stiffness
- Palmoplantar hyperkeratosis
- Hyperkeratosis
- Onychogryphosis
- Abnormal hair morphology
- Abnormality of the dentition