palmoplantar keratoderma and congenital alopecia 1

info · Syndrome

An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31.

Signs and symptoms

Alopecia
Brittle hair
Palmoplantar erythema
Nail dysplasia
Sparse eyebrow
Sparse hair
Keratosis pilaris
Hyperpigmentation of the skin
Plantar hyperkeratosis
Palmoplantar keratoderma

Also known as: PPK-CA, Stevanovic type; PPKCA Stevanovic type; PPKCA1; autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; autosomal dominant palmoplantar keratoderma and congenital alopecia