generalized intermediate epidermolysis bullosa simplex 1B

An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy and has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.

Signs and symptoms

• Suprabasal cleavage
• Abnormal blistering of the skin
• Palmoplantar hyperkeratosis
• Milia
• Nail dystrophy
• Oral mucosal blisters

Also known as: epidermolysis bullosa simplex Koebner type; epidermolysis bullosa simplex generalized type