JUVENILE HYALINE FIBROMATOSIS

Juvenile hyaline fibromatosis is a rare autosomal recessive connective tissue disease first described in 1873 by Murray. Major diagnostic cr iteria are multiple cutaneous tumors and gingival hypertrophy; minor c riteria include contractures, osteolytic lesions and a positive family history. After a normal perinatal period at the age of 6 months our 2 4 year old patient developed gingival hypertrophy. During the first mo nths of life several skin coloured nodules had been noticed on the nec k and in the perianal area. At the age of 15 months, these nodules beg an to appear more rapidly, both spontaneously and posttraumatically. T he patient showed normal development, but the lesions progressed. By t he age of 15 years, the patient had extensive deformities and was unab le to walk and move by himself. Both his sisters and the unrelated par ents had no lesions. Essential for the diagnosis are the clinical pict ure and the histology. Electron microscopy is helpful to support the d iagnosis. Defective connective tissue proteins such as chondroitin, co llagen and mucopolysaccharides are probably the pathological defect. A therapy is so far unknown.