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Skin collagen defects in a patient with juvenile hyaline fibromatosis.
  1. B Lubec,
  2. I Steinert,
  3. F Breier,
  4. W Jurecka,
  5. K Pillwein,
  6. S Fang-Kircher
  1. Department of Paediatrics (Neonatology), University of Vienna, Austria.

    Abstract

    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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