Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes.

Abstract

Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in the three genes coding for the alpha chains of collagen VI and characterized by generalized muscle weakness, striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints, and normal intellectual development. The diagnosis is supported by abnormal immunoreactivity for collagen VI on muscle biopsies. As patients with UCMD show clinical characteristics typical of classical disorders of connective tissue such as Ehlers-Danlos syndromes (EDS), we investigated the ultrastructure of skin biopsy samples from patients with UCMD (n=5). Electron microscopy of skin biopsies revealed ultrastructural abnormalities in all cases, including alterations of collagen fibril morphology (variation in size and composite fibers) and increase in ground substance, which resemble those seen in patients with EDS. Our findings suggest that there is a true connective tissue component as part of the phenotypic spectrum of UCMD and that there is considerable clinical as well as morphological overlap between UCMD and classic connective tissue disorders.

• Authors: Janbernd Kirschner, Ingrid Hausser, Yaqun Zou, Gudrun Schreiber, Hans-Jürgen Christen, Susan C Brown, Ingrun Anton-Lamprecht, Francesco Muntoni, Folker Hanefeld, Carsten G Bönnemann
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 132A Issue 3 Pg. 296-301 (Jan 30 2005) ISSN: 1552-4825 [Print] United States
• PMID: 15690374 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: (c) 2004 Wiley-Liss, Inc.

Topics

• Adolescent
• Child
• Connective Tissue (abnormalities)
• Diagnosis, Differential
• Ehlers-Danlos Syndrome (diagnosis)
• Humans
• Microscopy, Electron
• Muscular Dystrophies (congenital, diagnosis)
• Skin (pathology, ultrastructure)