recessive dystrophic epidermolysis bullosa

An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen

An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.

Signs and symptoms

• Sub-lamina densa cleavage
• Atrophic scars
• Abnormal blistering of the skin
• Oral mucosal blisters
• Milia
• Alopecia
• Squamous cell carcinoma
• Esophageal stricture
• Flexion contracture
• Fragile skin

Also known as: RDEB, Hallopeau-Siemens type; autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type