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. 1995 Sep;73(3):246–248. doi: 10.1136/adc.73.3.246

Skin collagen defects in a patient with juvenile hyaline fibromatosis.

B Lubec 1, I Steinert 1, F Breier 1, W Jurecka 1, K Pillwein 1, S Fang-Kircher 1
PMCID: PMC1511266  PMID: 7492165

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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