[Skip to Content]
[Skip to Content Landing]
January 1987

Ehlers-Danlos Syndrome: A Variant Characterized by the Deficiency of Proa2 Chain of Type I Procollagen

Author Affiliations

From the Department of Tissue Physiology, Medical Research Institute, Tokyo Medical and Dental University (Drs Sasaki, Arai, and Nagai), and the Center for Cardiovascular Disease, Mitsui Memorial Hospital (Drs Ono, Yamaguchi, and Furuta), Tokyo. Dr Sasaki is now with the Department of Dermatology, Yokohama (Japan) City University School of Medicine.

Arch Dermatol. 1987;123(1):76-79. doi:10.1001/archderm.1987.01660250082024

• The clinical findings and biochemical studies are described for a 30-year-old man with Ehlers-Danlos syndrome. Type analysis of collagen produced by cultured fibroblasts revealed the lack of a detectable proα2 chain of type I procollagen. The intracellular degradation rate of newly synthesized collagen was higher than that of normal cells, resulting in the reduction of net collagen production. Clinical manifestations characterized by cardiovascular abnormalities due to decreased collagen deposition in the aortic valve and the wall of aorta, hypermobility of the joints, and hyperextensibility of the skin in this patient may be closely related to the observations described above.

(Arch Dermatol 1987;123:76-79)