Skin collagen defects in a patient with juvenile hyaline fibromatosis. Issue 3 (September 1995)

• Record Type: Journal Article
• Authors: Lubec, B; Steinert, I; Breier, F; Jurecka, W; Pillwein, K; Fang-Kircher, S
• Is Part Of: Archives of disease in childhood. Volume 73:Issue 3(1995)
• Page Start: 246
• Page End: 248
• Publication Date: 1995-09
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.73.3.246
• Languages: English
• ISSNs: 0003-9888

Abstract

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.