Conditions / Musculoskeletal
hyaline fibromatosis syndrome
info · Musculoskeletal
A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has
A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21.
Signs and symptoms
- Osteoporosis
- Osteopenia
- Subcutaneous nodule
- Gingival overgrowth
- Flexion contracture
- Coarse facial features
- Arthralgia
- Narrow face
- Thickened skin
- Low-set ears
Also known as: HFS; inherited systemic hyalinosis; puretic syndrome; systemic hyalinosis