A case of juvenile hyaline fibromatosis

Abstract

Juvenile hyaline fibromatosis (JHF) is a rare, autosomally-recessive disease characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions. Its onset is in infancy or early childhood. The most commonly affected sites are the nose, chin, ears, scalp, back and knees. The accumulation of an amorphous, hyaline material is typical in the skin and the other organs. Herein, we report a 14-month-old boy who presented with confluent pink papules on the paranasal folds and the chin, and nodular lesions on the periauricular and perianal regions. He had gingival hypertrophy and contractures of the shoulders, knees and elbows. He also had third-degree consanguineous parents. Histopathological studies confirmed the diagnosis of JHF with the presence of increased numbers of fibroblasts embedded in a hyalinized connective tissue stroma.

Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature

“…Multiple large sized perianal nodules/papules were found in both studied cases. Other authors reported perianal nodules/papules but our cases had marked large sized nodules (16,17). The perianal nodule, although it is highly characteristic of ISH, might be misdiagnosed as condylomata which herein has been ruled out by a negative test for human papilloma virus (18).…”

Ultrasound findings in infantile systemic hyalinosis

“…It has been shown that the same gene is associated with ISH as well as with JHF. Mutation analysis of genes within the minimal interval revealed that deleterious mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) might be the cause of both conditions [7,8].…”

Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution

“…Osteolytic lesions commonly occur in the long bones, skull and distal phalanges, associated or not with soft tissue swelling [18][19][20]. Diffuse demineralization was reported in long bones and reabsorption in the medial aspect of the proximal tibiae seems to be a distinctive feature of the disorder [21].…”