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

被引:14
作者
DORIGUZZI, C [1 ]
PALMUCCI, L [1 ]
MONGINI, T [1 ]
BERTOLOTTO, A [1 ]
MANISCALCO, M [1 ]
CHIADOPIAT, L [1 ]
ZINA, AM [1 ]
BUNDINO, S [1 ]
机构
[1] UNIV TURIN,DERMATOL CLIN 2,TURIN,ITALY
关键词
JUNCTIONAL EPIDERMOLYSIS BULLOSA; MUSCULAR DYSTROPHY; MUSCLE BIOPSY; EXTRACELLULAR MATRIX; IMMUNOHISTOCHEMISTRY;
D O I
10.1159/000116993
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
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页码:454 / 460
页数:7
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