Ehlers-Danlos syndrome type IV with Charcot Marie tooth disease: an unusual combination of diseases.

Autor: Alagiakrishnan K; Department of Medicine, Saint Barnabas Medical Center, Haiwaii 96822, USA., Schoenberger SL, Chasan A, Jill R, Berman EL
Jazyk: angličtina
Zdroj: Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases [J Clin Rheumatol] 1999 Aug; Vol. 5 (4), pp. 215-8.
DOI: 10.1097/00124743-199908000-00007
Abstrakt: Ehlers-Danlos Syndrome (EDS) type IV is a rare genetic disorder of connective tissue. Most patients with EDS type IV are frequently unaware of this disorder until the catastrophic rupture of an artery or bowel occurs. We are reporting an association between this and another uncommon autosomal dominant disorder, Charcot Marie Tooth disease. The neurologic problem led to painful foot deformities, requiring surgery, which was complicated by difficulty controlling bleeding in the friable tissues. Other reported associations of heritable disorders of connective tissue and neuropathies are described.
Databáze: MEDLINE