Juvenile hyaline fibromatosis

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Juvenile Hyaline Fibromatosis

File:Juvenile hyaline fibromatosis.jpg
Micrograph of Juvenile Hyaline Fibromatosis

Juvenile hyaline fibromatosis (JHF) is a rare, inherited disorder that primarily affects the skin, joints, and bones. It is characterized by the accumulation of a clear (hyaline) material in the skin and other body tissues.

Symptoms[edit | edit source]

The symptoms of JHF typically appear in infancy or early childhood. They include skin abnormalities such as thickened skin, nodules, and papules, joint contractures, and bone abnormalities. Other symptoms may include growth delay, facial abnormalities, and severe pain in response to minor trauma.

Causes[edit | edit source]

JHF is caused by mutations in the CMG2 gene, also known as the ANTXR2 gene. This gene provides instructions for making a protein that is involved in the formation of blood vessels and the breakdown of hyaline, a substance that is a major component of the body's connective tissues.

Diagnosis[edit | edit source]

Diagnosis of JHF is based on the clinical symptoms and confirmed by genetic testing to identify mutations in the ANTXR2 gene.

Treatment[edit | edit source]

There is currently no cure for JHF. Treatment is symptomatic and supportive, and may include physical therapy to improve joint mobility, pain management, and surgical removal of painful or disfiguring skin nodules.

Prognosis[edit | edit source]

The prognosis for individuals with JHF varies. Some individuals have a mild form of the disorder and live into adulthood, while others have a severe form and may not survive past childhood.

See also[edit | edit source]

References[edit | edit source]

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Contributors: Prab R. Tumpati, MD