Conditions / Genetic
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
info · Genetic
A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12.
Signs and symptoms
- Subungual hyperkeratosis
- Alopecia totalis
- Parakeratosis
- Posterior blepharitis
- Epidermal acanthosis
- Palmoplantar hyperkeratosis
- Palmoplantar keratoderma
- Blepharitis
- Hyperkeratosis
Also known as: OLMSX; X-linked Olmsted syndrome