[Painful disseminated fibromatosis (systemic hyalinosis): a new hereditary collagen dysplasia].
A case of systemic hyalinosis is reported and the main features of this unusual affection are quoted. The systemic hyalinosis is a syndrome exhibiting the following symptoms : a distressing arthogryposis syndrome, a diffusely stiff skin, some subcutaneous and submucosal fibrotic nodular lymps, repeated suppurative original infections and a facial dysmorphy. Biopsies of nodules show an active proliferation of the connective tissue associated with some peculiar hyalin changes of the collagen fibres. Most cases including the present one die in the first years. The pathogenesis is presently unknown. The systemic hyalinosis seems to be an autosomic recessive heritable disorder and is reasonably settled in the large group of the hereditary diseases of the connective tissue.
D001176:Arthrogryposis / Q000209:etiology; D003095:Collagen Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003238:Connective Tissue / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D006818:Hyalin / Q000378:metabolism; D007223:Infant; D008297:Male
La fibromatose disséminée douloureuse (hyalinose systémique): une nouvelle dysplasie héréditaire du collagène.