Conditions / Genetic
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
info · Genetic
A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.
Signs and symptoms
- Periorificial hyperkeratosis
- Orthokeratosis
- Pruritus
- Palmoplantar keratoderma
- Hyperparakeratosis
- Amniotic constriction ring
- Parakeratosis
- Nail dysplasia
- Flexion contracture
- Subungual hyperkeratosis
Also known as: OLMS1; Olmsted syndrome 1; autosomal dominant Olmsted syndrome