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Atypical Presentation of Lip Nodules in Clinically Diagnosed Juvenile Hyaline Fibromatosis
Ee Theng Khoo1, Ju Ann Tan1, Muath Mamdouh Mahmod Al-Chalabi1
1Reconstructive Sciences Unit, Universiti Sains Malaysia (USM), Kota Bharu, MYS.
Abstract:
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.
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