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Dermal changes in Ehlers‐Danlos syndrome
Author(s) -
Kobayasi Takasi,
Oguchi Motoi,
AsboeHansen Gustav
Publication year - 1984
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1984.tb00490.x
Subject(s) - ehlers–danlos syndrome , pathology , ultrastructure , fibril , anatomy , connective tissue , anchoring fibrils , collagen fibril , endoplasmic reticulum , electron microscope , medicine , chemistry , biology , microbiology and biotechnology , genetics , physics , optics
Skin biopsies from thirteen patients suffering from Ehlers‐Danlos syndrome, including 6 of the mitis type, 4 of the benign hypermobile type, one of the X‐linked type, one of the ocular type and one of the periodontitis type, were studied by electron microscopy after routine preparation. Collagen fibrils showed a distorted arrangement of bent, curled or twisted fibrils and threadlike material. Similar changes may be seen in the skin of other hereditary disorders of connective tissue. However, abnormal collagen fibrils in normal skin suggests one of eight Jypes of Ehlers‐Danlos syndrome. Clinical variants cannot be differentiated on the basis of ultrastructural findings. Elastic fibres were normal without degenerative changes. Perineurium was lacking in dermal nerves of most patients. Fibroblast‐like cells showed no cystic cisterna of endoplasmic reticula.