Arch Dis Child 1997;77:436-440 ( November )
Juvenile hyaline fibromatosis: impaired collagen metabolism in
human skin fibroblasts
F Breier,a
S Fang-Kircher,b
K Wolff,c
W Jureckac
a Lainz Municipal Hospital, Vienna, b University of Vienna, Medical School, Austria:
Institute for Medical Chemistry, c Department of Dermatology, Division of General Dermatology
Correspondence to: Dr
Friedrich Breier, Department of Dermatology, Lainz Municipal Hospital,
Wolkersbergenstr 1, A-1130 Vienna, Austria.
Accepted 17 June 1997
Juvenile hyaline fibromatosis (JHF) is inherited as a fatal
autosomal recessive disorder characterised by multiple tumorous mucocutaneous proliferations. 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 absent band for type III collagen (TIIIC) chain
in western blot studies of clinically unaffected JHF skin. Therefore
supernatants of skin fibroblast cell cultures, obtained from normal
human skin, were analysed for type I collagen (TIC) and TIIIC
metabolites by radioimmunoassays. Besides the typical morphological
connective tissue changes in the skin lesions, TIC synthesis and
degradation were found increased in JHF fibroblasts compared with
control fibroblasts. In contrast, TIIIC overall metabolism was
significantly reduced by 36% compared with controls.
Keywords:
juvenile hyaline fibromatosis;
skin;
collagen type I
and type III metabolism
© 1997 by Archives of Disease in Childhood
