JUVENILE HYALINE FIBROMATOSIS - A REPORT OF 2 UNRELATED ADULT SIBLINGCASES AND A LITERATURE-REVIEW

Two unrelated adult sibling cases (36- and 32-year-old females) of juv enile hyaline fibromatosis are presented. The parents of one of these patients were non-consanguineous but natives of a small island, and on e elder sister among four siblings was affected with the same disease. The parents of the other patient were consanguineous, and one other s ibling suffered from the identical disease. Both patients presented wi th multiple subcutaneous nodules, which they had had since infancy, an d had undergone numerous surgical excisions. Light microscopy examinat ion of skin lesions from both patients showed identical histology; an abundance of a homogenous, amorphous, eosinophilic extracellular matri x in which spindle-shaped-shaped cells were embedded. Electron microsc opically, the spindle-shaped cells had hypertrophic Golgi apparatus an d dilated, rough endoplasmic reticulum. Fine fibrillar and granular ma terial-filled structures, the contents of which were occasionally rele ased into the extracellular matrix, were also seen. Immunohistochemica lly, the spindle-shped cells were vimentin-positive but negative for a lpha-smooth muscle actin and S-100 protein.