Juvenile hyaline fibromatosis

Juvenile hyaline fibromatosis (JHF), also known as Murray syndrome or puretic syndrome, is a rare inherited connective tissue disorder characterized by the abnormal accumulation of hyaline (glassy, translucent) material in the skin and other tissues. It is now considered part of a clinical spectrum called hyaline fibromatosis syndrome, which also includes the more severe infantile systemic hyalinosis. JHF is caused by mutations in the ANTXR2 gene (also known as CMG2), which encodes a protein involved in extracellular matrix homeostasis. The disease primarily affects the skin, joints, bones, and gingiva (gums). Key clinical features include the development of multiple subcutaneous nodules and papules on the skin (particularly on the face, scalp, ears, and extremities), severe gingival hypertrophy (overgrowth of the gums), joint contractures leading to progressive limitation of movement, and osteolytic bone lesions. The skin lesions are firm, painless nodules composed of hyaline material. Joint contractures can become severely disabling over time, significantly impairing mobility and daily functioning. Onset typically occurs in early childhood, usually within the first few years of life. There is currently no cure for juvenile hyaline fibromatosis. Treatment is primarily supportive and symptomatic. Surgical excision of skin nodules and gingival tissue may be performed, though recurrence is common. Physical therapy is important for maintaining joint mobility and function. Gingivectomy may be needed to address gum overgrowth that can interfere with eating and dental health. The prognosis varies, but many patients survive into adulthood, distinguishing JHF from the more severe infantile systemic hyalinosis, which often has a poorer outcome. Multidisciplinary care involving dermatology, orthopedics, dentistry, and rehabilitation medicine is recommended.

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