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.

Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. / DORIGUZZI C ;PALMUCCI L ;MONGINI T ;BERTOLOTTO A ;MANISCALCO M ;CHIADÒ-PIAT L ;ZINA AM ;BUNDINO S. - In: EUROPEAN NEUROLOGY. - ISSN 0014-3022. - STAMPA. - 33(1993), pp. 454-460.

Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis.

PALMUCCI, Laura Maria;MONGINI, Tiziana Enrica;CHIADO'-PIAT, Loredana;
1993

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.
33
454
460
DORIGUZZI C ;PALMUCCI L ;MONGINI T ;BERTOLOTTO A ;MANISCALCO M ;CHIADÒ-PIAT L ;ZINA AM ;BUNDINO S
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/36075
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