Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis
| Autor: | Tiziana Mongini, Loredana Chiado'-Piat, Bundino S, Carlo Doriguzzi, Zina Am, Antonio Bertolotto, Mauro Maniscalco, Laura Palmucci |
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| Jazyk: | angličtina |
| Rok vydání: | 1993 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Biopsy Junctional epidermolysis bullosa (medicine) Basement Membrane Muscular Dystrophies Dystrophin Epidermolysis bullosa simplex Laminin medicine Humans Muscular dystrophy Skin Muscle biopsy integumentary system biology medicine.diagnostic_test business.industry Muscles Cell Membrane medicine.disease Dermatology Extracellular Matrix Microscopy Electron Neurology biology.protein Congenital muscular dystrophy Neurology (clinical) Epidermolysis bullosa Epidermolysis Bullosa Junctional business |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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