Dermal changes in Ehlers‐Danlos syndrome

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Abstract
Skin biopsies from 13 patients suffering from Ehlers-Danlos syndrome, including 6 of the mitis type, 4 of the benign hypermobile type, 1 of the X-linked type , 1 of the ocular type and 1 of the periodontitis type, were studied by EM after routine preparation. Collagen fibrils showed a distorted arrangement of bent, curled or twisted fibrils and thread-like material. Similar changes may be seen in the skin of other hereditary disorders of connective tissue. Abnormal collagen fibrils in normal skin suggests 1 of 8 types of Ehlers-Danlos syndrome. Clinical variants cannot be differentiated on the basis of ultrastructural findings. Elastic fibers were normal without degenerative changes. Perineurium was lacking in dermal nerves of most patients. Fibroblast-like cells showed no cystic cisterna of endoplasmic reticula.