Deficiency of the core proteins of dermatan sulphate proteoglycans in a variant form of Ehlers-Danlos syndrome

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Abstract
Fushimi H, Kameyama M, Shinkai H (Department of Medicine, Sumitomo Hospital, Osaka and Department of Dermatology, Medical College of Oita, Oita, Japan). Deficiency of the core proteins of dermatan sulphate proteoglycans in a variant form of Ehlers-Danlos syndrome. A variant form of Ehlers-Danlos syndrome with single adrenocorticotrophic hormone (ACTH) deficiency and mild diabetes mellitus was studied by immunohistochemical and biochemical analyses of the connective tissue. The patient exhibited features characteristic of the Ehlers-Danlos syndrome, such as fragility, hyperextensibility, and bruisability of the skin and large veins were readily seen, but no hypermobility of any joint was detectable. Biochemical studies of the connective tissue confirmed that the apparent synthesis of collagens was within normal limits, but the deposition of the major proteoglycan in the skin of this patient was markedly reduced, mainly because the synthesis of core protein of dermatan sulphate proteoglycan was defective.