Management of airway obstruction in a severe case of juvenile hyaline fibromatosis.

Abstract

Juvenile hyaline fibromatosis (JHF) is an extremely rare, genetic disease with unknown etiology. It is characterized by cutaneous nodules and flexural joint contractures, along with hypertrophy of the gingival and oral mucosa, which is probably the most striking and morbidity-related feature of the disease. An advanced case of JHF with prominent growth retardation, recurrent respiratory tract infections, and impending upper respiratory tract obstruction due to severe hypertrophy of the oral mucosa and gingiva is presented. Surgical excision of the hypertrophic oral mucosa and cutaneous nodules in the scalp was performed. No major recurrence of the mucosal lesions was observed at the first postoperative year.