generalized severe epidermolysis bullosa simplex 1A

An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in m

An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in the Keratin 14 (KRT14) gene on chromosome 17q21 either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases.

Signs and symptoms

• Abnormal blistering of the skin
• Hoarse voice
• Hoarse cry
• Nail dystrophy
• Stratum basale cleavage
• Oral mucosal blisters
• Tonofilament clumping
• Milia
• Palmoplantar hyperkeratosis
• Growth delay

Also known as: EBS-gen sev; EBSDM; epidermolysis bullosa herpetiformis Dowling-Meara type; epidermolysis bullosa simplex Dowling-Meara type; epidermolysis bullosa simplex, herpetiformis