Skin collagen defects in a patient with juvenile hyaline fibromatosis.
Department of Paediatrics (Neonatology), University of Vienna, Austria.
Juvenile hyaline fibromatosis is a rare disorder characterised by multiple subcutaneous tumours, gum hypertrophy, muscle weakness, and flexion contractures of the large joints. Histology shows an abundance of a homogenous, amorphous, acidophilic extracellular matrix in which spindle shaped cells are embedded forming minute streaks. It has been previously suggested that collagen abnormalities may be involved. A 14 month old girl with this syndrome is described in whom postmortem western blot studies were performed. These studies revealed an absent pro-alpha 2(I) chain and an absent collagen type III chain in skin but not in the other organs examined.
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Breier, F, Fang-Kircher, S, Wolff, K, Jurecka, W
(1997). Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts. Arch. Dis. Child.
77: 436-440
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