Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin.
Two siblings suffered from Ehlers-Danlos syndrome characterized by skin fragility, joint laxity and dermal hyperelasticity. The association with microcornea and muscle hypotonia allowed the preliminary classification into type VI according to McKusick. Ultrastructure analysis of skin biopsies revealed poor integration of collagen fibrils into fibres; accordingly, the texture of the connective tissue appeared irregular. Lysyl hydroxylase activity of cultured skin fibroblasts was markedly reduced in the cells of the two patients. Preliminary studies revealed intermediate activity in the cells cultured from the skin of the parents. This finding suggested an autosomal recessive mode of inheritance. Unexpectedly and in contrast to the 3 cases reported in the literature, the hydroxylysine deficit in the patients' skin was, for reasons not yet understood, only mild. Therefore, amino acid analysis of skin is not adequate for the diagnosis of lysyl hydroxylase-deficient Ehlers-Danlos syndrome type VI.
D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D003094:Collagen / Q000096:biosynthesis; D004535:Ehlers-Danlos Syndrome / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology*; D006801:Humans; D006901:Hydroxylysine / Q000172:deficiency; D007656:Ketoglutaric Acids; D008239:Lysine; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency*; D010375:Pedigree; D012867:Skin / Q000166:cytology / Q000378:metabolism / Q000648:ultrastructure
D007656:Ketoglutaric Acids; D006901:Hydroxylysine; D003094:Collagen; D006899:Mixed Function Oxygenases; D008239:Lysine