epidermolysis bullosa simplex 1C

An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet and that has_material_basis_in heterozygous mutation in the keratin-14 gene (KRT14) on ch

An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet and that has_material_basis_in heterozygous mutation in the keratin-14 gene (KRT14) on chromosome 17q21.

Signs and symptoms

• Palmoplantar blistering
• Stratum basale cleavage
• Milia
• Hyperkeratosis

Also known as: epidermolysis bullosa simplex Weber-Cockayne type; epidermolysis bullosa simplex localized type