title: Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis.
abstract: A 20-year-old patient was born with epidermolysis bullosa and a severe, slowly progressive muscle disease. Skin biopsy demonstrated junctional epidermolysis bullosa. Muscle biopsy demonstrated degenerative changes with increase in connective tissue, fibre size variability, rods and cytoplasmic bodies, central nuclei. In muscle biopsy dystrophin, chondroitin unsulphate, chondroitin 4-sulphate, chondroitin 6-sulphate, heparan sulphate, collagen III, collagen IV and VI, laminin, and fibronectin were normally distributed. This is the first report of the association of a form of congenital muscular dystrophy with junctional epidermolysis bullosa and, together with the previous reports of muscle involvement in epidermolysis bullosa simplex and dystrophica, it suggests the existence of a syndrome characterized by the contemporaneous presence of skin and muscle involvement.
authors.affiliation: Paolo Periolo Centre for Neuromuscular Diseases, University of Turin, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Doriguzzi
authors.forename: L
authors.initials: L
authors.lastname: Palmucci
authors.forename: T
authors.initials: T
authors.lastname: Mongini
authors.forename: A
authors.initials: A
authors.lastname: Bertolotto
authors.forename: M
authors.initials: M
authors.lastname: Maniscalco
authors.forename: L
authors.initials: L
authors.lastname: Chiadò-Piat
authors.forename: A M
authors.initials: AM
authors.lastname: Zina
authors.forename: S
authors.initials: S
authors.lastname: Bundino
mesh_terms: D000328:Adult; D001485:Basement Membrane / Q000473:pathology; D001706:Biopsy; D002462:Cell Membrane / Q000473:pathology; D016189:Dystrophin / Q000032:analysis; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics* / Q000473:pathology; D005109:Extracellular Matrix / Q000473:pathology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology
chemical_list: D016189:Dystrophin