junctional epidermolysis bullosa Herlitz type

A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the

A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.

Signs and symptoms

• Lamina lucida cleavage
• Abnormal blistering of the skin
• Milia
• Carious teeth
• Pyloric stenosis
• Nail dysplasia
• Atrophic scars
• Failure to thrive
• Congenital localized absence of skin
• Enamel hypoplasia

Also known as: Herlitz type epidermolysis bullosa junctionalis; Herlitz-Pearson-type epidermolysis bullosa; JEB-H; JEB-Herlitz type; epidermolysis bullosa letalis