CONGENITAL MUSCULAR-DYSTROPHY ASSOCIATED WITH FAMILIAL JUNCTIONAL EPIDERMOLYSIS-BULLOSA LETALIS

A 20-year-old patient was born with epidermolysis bullosa and a severe , slowly progressive muscle disease. Skin biopsy demonstrated junction al epidermolysis bullosa. Muscle biopsy demonstrated degenerative chan ges with increase in connective tissue, fibre size variability, rods a nd cytoplasmic bodies, central nuclei. In muscle biopsy dystrophin, ch ondroitin unsulphate, chondroitin 4-sulphate, chondroitin 6-sulphate, heparan sulphate, collagen III, collagen IV and VI, laminin, and fibro nectin were normally distributed. This is the first report of the asso ciation of a form of congenital muscular dystrophy with junctional epi dermolysis bullosa and, together with the previous reports of muscle i nvolvement in epidermolysis bullosa simplex and dystrophica, it sugges ts the existence of a syndrome characterized by the contemporaneous pr esence of skin and muscle involvement.