Ehlers-Danlos syndrome--20 years experience with diagnosis and classification at the university skin clinic of Heidelberg

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Sylvia ProskeIngrid Hausser

Abstract

The Ehlers-Danlos syndrome encompasses a group of hereditary disorders of the connective tissue, characterized by hyperextensible skin, joint hypermobility; and varying degrees of vessel and tissue fragility. The main forms are classical, hypermobile, vascular, kyphoscoliotic A/B, arthrochalasis A/B and dermatosparaxis types. We report our experience in diagnosis and classification of Ehlers-Danlos-syndrome, especially with the combination of clinical and morphological criteria, at the Department of Dermatology of the University of Heidelberg with more than 600 patients between 1984 and 2004. We classified those types of EDS which are characterized by regular and characteristic ultrastructural changes in the dermal components, primarily collagen, including the classical, hypermobile and vascular types as well as the less-common arthrochalasis and dermatosparaxis types. The combination of clinical and morphologic features facilitates the selection of candidate genes for molecular genetic investigation. Besides the skin, skeleton and vessels, many other organ systems such as eyes and intestine, can be affected in Ehlers-Danlos syndrome. Accordingly, interdisciplinary cooperation (pediatrics, surgery, orthopedics, rheumatology, ne...Continue Reading

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Citations

May 16, 2012·Biomechanics and Modeling in Mechanobiology·Jeffrey K Cheng, Jessica E Wagenseil
Nov 9, 2011·American Journal of Medical Genetics. Part a·Eduardo J Mortani BarbosaBenoit Desjardins
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Jun 18, 2011·Journal of the American Academy of Dermatology·Nadine ReiterElisabeth Aberer

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