Atypical Presentation of Lip Nodules in Clinically Diagnosed Juvenile Hyaline Fibromatosis

• Published in: Curēus (Palo Alto, CA) Vol. 15; no. 6; p. e40512
• Main Authors: Khoo, Ee Theng, Tan, Ju Ann, Al-Chalabi, Muath Mamdouh Mahmod, Mat Zain, Mohammad Ali, Wan Sulaiman, Wan Azman
• Format: Journal Article
• Language: English
• Published: United States Cureus Inc 16-06-2023; Cureus
• Subjects: Case reports; Connective tissue diseases; Genetic testing; Mutation; Oral Medicine; Ostomy; Pediatric Surgery; Plastic Surgery; Reconstructive surgery; Kuala Lumpur Malaysia; Malaysia; juvenile hyaline fibromatosis; lip nodules; perioral nodules; autosomal recessive disease; extensive lip nodules
• ISSN: 2168-8184; 2168-8184
• DOI: 10.7759/cureus.40512

Juvenile hyaline fibromatosis (JHF) is a rare, hereditary disease characterized by abnormal hyaline deposits within the skin, soft tissues, joints, and bones. The condition itself is often debilitating, with no curative treatment available. A definitive diagnosis is established by genetic testing. However, the hallmarks of gingival hypertrophy, subcutaneous scalp nodules, and joint contractures can be used as a clinical guide when genetic testing is unavailable. Here, we report an unusual case of a five-year-old child clinically diagnosed with juvenile hyaline fibromatosis with atypical nodules exclusively confined to the perioral region.