junctional epidermolysis bullosa non-Herlitz type

A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the

A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.

Signs and symptoms

• Carious teeth
• Patchy alopecia
• Abnormal blistering of the skin
• Enamel hypoplasia
• Nail dystrophy
• Camptodactyly of finger
• Fragile nails
• Hypodontia
• Palmar hyperhidrosis
• Plantar hyperkeratosis

Also known as: GABEB; JEB-nH gen; JEN-nH; generalized atrophic benign epidermolysis bullosa; generalized junctional epidermolysis bullosa, non-Herlitz type