RESUMO

We reviewed the clinical findings in 10 patients with lysyl hydroxylase deficiency (Ehlers-Danlos syndrome type VI) and report here the range of clinical severity in these patients. The distinctive feature common to all patients was muscle hypotonia with joint laxity in the newborn period, and moderate to severe kyphoscoliosis either was present or developed in almost all patients. Most patients also had some degree of skin abnormality observed in other types of Ehlers-Danlos syndrome: bruisability, abnormal scarring, and soft, distensible skin. These patients also are at risk for potentially catastrophic arterial rupture.

Assuntos

Colágeno/metabolismo , Síndrome de Ehlers-Danlos/enzimologia , Oxigenases de Função Mista/deficiência , Pró-Colágeno-Lisina 2-Oxoglutarato 5-Dioxigenase/deficiência , Estatura , Doenças Cardiovasculares/epidemiologia , Células Cultivadas , Síndrome de Ehlers-Danlos/fisiopatologia , Oftalmopatias/epidemiologia , Fibroblastos/enzimologia , Humanos , Recém-Nascido , Fenótipo , Pele/patologia