Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease

Juvenile Hyaline Fibromatosis

Juvenile hyaline fibromatosis (JHF) is a rare, progressive autosomal recessive disease that's characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions. We present here the case of a 2-yr-old boy with JHF along with a review of the relevant literature. This case demonstrates that JHF should be considered in the differen...

Juvenile hyaline fibromatosis.

Juvenile byaline fibromatosis is a rare connective tissue disorder, characterized by skin tumours, gingival hypertrophy and flexion contractures of the acral joints. Other associations include stunted growth, osteolytic changes and muscle weakness. The mental development is normal. Juvenile hyaline fibromatosis probably has an autosomal recessive inheritance, characterized by increased synthesi...

Juvenile hyaline fibromatosis.

J Postgrad Med 2004;50:125-6 n 18-month-old female child born of a second degree consanguineous marriage presented with asymptomatic, pink, raised lesions on the body since the age of six months and boggy swellings on the scalp since the age of 12 months. There was a gradual increase in the size of the skin and scalp lesions. A progressive, painless, flexion deformity of both the upper and lowe...

Juvenile Hyaline Fibromatosis: A Rare Case with Recurrence

Anaesthesia and juvenile hyaline fibromatosis.

Juvenile hyaline fibromatosis is a rare autosomal recessive disease characterized by large cutaneous nodules, especially around the head and neck and often involving the lips. The effects become increasingly severe with age and also include joint contractures, gingival hypertrophy and osteolytic lesions. We describe the anaesthetic management of two sisters with this disease. Safe maintenance o...