Juvenile hyaline fibromatosis. Case report and review of the literature
Visonà, A.; Ronconi, G.; Montaguti, A.; Stracca-Pansa, V.; Azzopardi, J.G.
Pathologica 79(1061): 357-366
1987
ISSN/ISBN: 0031-2983 PMID: 3327049 Document Number: 289503
A case of Juvenile Hyaline Fibromatosis is reported. This is a rare inherited autosomal recessive disease occuring in infancy and childhood. Review of the literature indicates that only about 30 cases have been reported. The clinical and histopathological features are described. Globular cytoplasmic spheres containing whorls of microfibrils and outlined by a membrane constitute the most distinctive ultrastructural feature. Differential diagnosis includes neurofibromatosis, infantile myofibromatosis and infantile digital fibromatosis. The disease, formerly thought to be due to an abnormal composition of collagen fibres, seems more likely to be related to an error in the metabolism of glycosaminoglycans. It probably belongs therefore to the mucopolysaccharidoses rather than to the fibromatoses.