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Ehlers-Danlos syndrome type VIII

1981; Elsevier BV; Volume: 5; Issue: 3 Linguagem: Inglês

10.1016/s0190-9622(81)70095-1

1097-6787

Douglas L. Nelson, Richard A. King,

Dupuytren's Contracture and Treatments

The Ehlers-Danlos syndrome (EDS) is a group of inherited disorders of connective tissue characterized by joint hypermobility, cutaneous hyperextensibility, and tissue fragility. At least nine subgroups of the disease have been described, each with a characteristic clinical pattern or unique biochemical defect. We describe three members of a family with the constellation of findings diagnostic of EDS type VIII. The trait first manifests in childhood, when minor trauma produces ecchymoses, which resolve normally except on the shins. The pretibial skin heals with distinct hyperpigmented atrophic scars. There is no hyperextensibility of the skin, nor evidence of visceral involvement. Minimal joint hypermobility was noted in one patient. Early onset of periodontal disease, with loss of the permanent teeth, is characteristic. EDS type VIII is inherited as an autosomal dominant trait. The Ehlers-Danlos syndrome (EDS) is a group of inherited disorders of connective tissue characterized by joint hypermobility, cutaneous hyperextensibility, and tissue fragility. At least nine subgroups of the disease have been described, each with a characteristic clinical pattern or unique biochemical defect. We describe three members of a family with the constellation of findings diagnostic of EDS type VIII. The trait first manifests in childhood, when minor trauma produces ecchymoses, which resolve normally except on the shins. The pretibial skin heals with distinct hyperpigmented atrophic scars. There is no hyperextensibility of the skin, nor evidence of visceral involvement. Minimal joint hypermobility was noted in one patient. Early onset of periodontal disease, with loss of the permanent teeth, is characteristic. EDS type VIII is inherited as an autosomal dominant trait.