JUVENILE HYALINE FIBROMATOSIS - IMPAIRED COLLAGEN-METABOLISM IN HUMANSKIN FIBROBLASTS

Juvenile hyaline fibromatosis (JHF) is inherited as a fatal autosomal recessive disorder characterised by multiple tumorous mucocutaneous pr oliferations. In this paper a 14 month old girl with JHF is described. For this condition, a malfunction of collagen synthesis is considered as the pathogenetic cause. Recently published data have revealed an a bsent band for type LII collagen (TIIIC) chain in western blot studies of clinically unaffected JHF skin. Therefore supernatants of skin fib roblast cell cultures, obtained from normal human skin, were analysed for type I collagen (TIC) and TIIIC metabolites by radioimmunoassays. Resides the typical morphological connective tissue changes in the ski n lesions, TIC synthesis and degradation were found increased in JHF f ibroblasts compared with control fibroblasts. In contrast, TIIIC overa ll metabolism was significantly reduced by 36% compared with controls.