Hyaline Fibromatosis Syndrome Presenting with Nasal Mass: A Case Report

• Published in: Ear, nose, & throat journal p. 1455613221129446
• Main Authors: Alkholaiwi, Feras, Alsheikh, Abdulmalik
• Format: Journal Article
• Language: English
• Published: United States 11-10-2022
• Subjects: Hyaline Fibromatosis Syndrome (HFS); Juvenile Hyaline Fibromatosis (JHF); Nasal Mass; Infantile Systemic Hyalinosis (ISH)
• ISSN: 0145-5613; 1942-7522
• DOI: 10.1177/01455613221129446

Hyaline fibromatosis syndrome (HFS) is a rare, autosomally-recesfvsive disease characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival overgrowth, and osteolytic bone lesions. Mutations in capillary morphogenesis gene 2 are responsible for both these conditions. Generally, an autosomal recessive pattern is assumed to be the most common mode of inheritance. Here, we report an unusual case of a twenty-three-year-old female patient with HFS who reported with a chief complaint of growing nasal mass for three months. There was no history of pain or bleeding associated with the nasal mass. Due to the growing mass, she experienced right nasal obstruction, which compromised her quality of life. There was an unremarkable family history. Her physical examination revealed multiple asymptomatic pinkish-white papulonodular lesions located at multiple sites. Intra orally, she had generalized gingival enlargement. Her nasal examination revealed a right sided nasal mass, bright red in color. The lesion was soft on palpation. All the results of hematological and biochemical tests were normal. However, skeletal radiographic examination showed the joint contractures on her knees and elbows without the presence of osteolytic bone lesions. The nasal lesion was surgically excised and histopathological examination revealed features suggestive of HFS.