Juvenile hyaline fibromatosis

Juvenile hyaline fibromatosis (JHF) is a rare genetic disorder characterized by the abnormal growth of fibrous tissue in the skin, joints, and other parts of the body. This condition typically presents in early childhood and can lead to significant physical deformities and functional impairments.

Presentation

JHF usually manifests within the first few years of life. Common symptoms include:

• Skin lesions: These are firm, painless nodules that can appear on the scalp, face, neck, and other areas.
• Joint contractures: Stiffness and limited range of motion in the joints, often leading to deformities.
• Gingival hypertrophy: Overgrowth of the gum tissue.
• Bone lesions: These can lead to bone pain and fractures.

Genetics

Juvenile hyaline fibromatosis is inherited in an autosomal recessive pattern. Mutations in the ANTXR2 gene, also known as the CMG2 gene, are responsible for this disorder. The ANTXR2 gene provides instructions for making a protein that is involved in the formation of the extracellular matrix, which provides structural support to tissues.

Diagnosis

Diagnosis of JHF is based on clinical evaluation, family history, and the identification of characteristic symptoms. Genetic testing can confirm the diagnosis by detecting mutations in the ANTXR2 gene. Biopsy of the skin lesions may show the presence of hyaline material in the dermis.

Treatment

There is no cure for JHF, and treatment is primarily supportive and symptomatic. Management strategies include:

• Physical therapy: To maintain joint mobility and prevent contractures.
• Surgical intervention: To remove large skin lesions or correct severe joint deformities.
• Pain management: Using medications to alleviate discomfort.

Prognosis

The prognosis for individuals with JHF varies. Some may experience a relatively mild course, while others may develop severe complications that significantly impact their quality of life. Early diagnosis and intervention can help manage symptoms and improve outcomes.

See also

• Fibromatosis
• Genetic disorders
• Connective tissue diseases

External links

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