_CarpeDIEM – Dermatological Indications for Electron Microscopy: Ehlers Danlos Syndrome

ARTICLE

ejd.2011.1607

Auteur(s) : Emmanuella Guenova¹, Martin Schaller¹

¹ Department of Dermatology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany

Ehlers Danlos Syndrome is a group of rare inherited connective tissue disorders, comprising six major and several minor types of the disease.

Common clinical symptoms of Ehlers Danlos Syndrome include easy bruising, excessive scarring, and poor wound healing. Furthermore, pathologically increased mobility of the joints, joint dislocation, and rupture of intestines, blood vessels or cornea deformation are observed.

The syndrome is a consequence of various gene mutations, all having in common the production of abnormal collagen fibers. Beside collagen gene mutation analysis, electron microscopy performed on a skin biopsy sample offers an excellent way to prove the suspected diagnosis of Ehlers Danlos Syndrome.

Figure 1 Electron microscopy view of abnormal collagen fibers in a patient with Ehlers Danlos Syndrome. Red arrows mark the “flower-like” cross section and the heterogeneity of the size of the collagen fibers.