Mutations of the CMG2 gene have been identified in hyaline fibromatosis syndrome (HFS), including juvenile hyaline fibromatosis and infantile systemic hyalinosis, which are autosomal recessive syndromes characterized by multiple, recurring subcutaneous tumours, gingival hypertrophy, joint contractures, osteolysis and osteoporosis (8,9). The gene discussed is ANTXR2; the disease is juvenile hyaline fibromatosis.