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Juvenile hyaline fibromatosis: impact of periodontal care on quality of life and a patient perspective Zehra Yonel Sabrina Parmar Iain LC Chapple Dental Update 2024 42:7, 707-709.
Authors
ZehraYonel
BDS, MFDS RCS(Ed), FHEA
Department of Periodontology, Birmingham Dental Hospital, St Chad's Queensway, Birmingham B4 6NN, UK
Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive inherited condition presenting early in life and characterized by the accumulation of hyaline-like tissue in the skin as well as various organs. Gingival overgrowth is a significant oral manifestation. This paper highlights how early and essential periodontal intervention may be necessary to improve mastication and subsequent weight gain, and to eliminate pain and improve the patient's quality of life. Here we highlight the key features of this condition and demonstrate how appropriate surgical management can have a significant impact on a patient‘s wellbeing.
CPD/Clinical Relevance: Juvenile hyaline fibromatosis has a significant impact on patient wellbeing and it is therefore important that clinicians are able to recognize the condition and ensure that patients receive appropriate care and management.
Article
Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive inherited condition. Impaired collagen synthesis is thought to be the major underlying mechanism behind JHF1, with mutation in the gene encoding the capillary morphogenesis protein 2 (ANTXR2/CMG2) implicated in the development of this disease.2
The condition is characterized clinically by the following features:
The oral complications of JHF extend to limited mouth opening due to joint contracture, difficulty eating and maintaining oral hygiene and a negative impact on speech due to the gingival overgrowth.
Approximately 70 cases of JHF have been reported in the literature to date5 and, owing to the rarity of the condition, debate regarding its exact pathogenesis is ongoing.
The condition was first described in 1873 by Murray, who described it as ‘Molluscum fibrosum’ in children’.1,6 Several terms have subsequently been used to describe the condition and, in 1972, Kitano et al first used the term ‘Juvenile hyaline fibromatosis’, which is the most commonly used term in the literature today.3,7
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