Juvenile hyaline fibromatosis (JHF) is a rare recessive autosomal hereditary disorder characterized by papulonodular skin, gingival hyperplasia, flexural joint contractures, and osteolytic bone lesions. Worldwide, less than 70 cases have been reported. JHF is thought to be a disorder of collagen metabolism which is caused by genomic sequence variations in the ANTXR2/CMG2 gene and is characterized by homogenous amorphous hyaline material and fibrous tissue. JHF is most commonly diagnosed in infants and in children less than 5 years. We report a 28-month-old child of a consanguineous marriage who presented with severe gingival hyperplasia, multiple facial nodules, posterior occipital tumors, joint contractures, and osteolytic bone lesions. His limbs and fingers cannot be straightened, with a posture of frog pose. The occlusal and incisal surfaces of the teeth were completely covered with the gingival overgrowth. The gingival hypertrophy and facial swellings were surgically removed, with pathological features of monomorphic spindled cell proliferation surrounded by an abundant amorphous hyaline matrix. The genome sequencing was performed that a homozygous nucleotide mutation of ANTXR2/CMG2 gene was found. We outline this particular patient's presentation, followed by a discussion highlighting the characteristics that change with the condition and the treatments of this disease. The treatment of JHF is generally symptomatic treatment and requires multidisciplinary care. Physical rehabilitation has been advocated for a lifetime.
Keywords: ANTXR2; Juvenile hyaline fibromatosis (JHF); case report; gingival hypertrophy; surgical excision.
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