Hyaline Fibromatosis Syndrome (HFS) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the ANTXR2 gene. It is characterized by the accumulation of hyaline deposits in various tissues, particularly the skin and joints.
The condition manifests early, often at birth or during infancy, with progressive joint contractures, thickened skin, hyperpigmented patches, and severe pain with movement. Additional clinical features include gingival hypertrophy, skin nodules, pearly papules on the face and neck, and perianal masses.
The disorder exhibits variable severity, with the severe form (previously termed infantile systemic hyalinosis, ISH) associated with high morbidity and early mortality, whereas milder cases (previously referred to as juvenile hyaline fibromatosis, JHF) may persist into adulthood.
ANTXR2