A rare case of melorheostosis of the hand in a pediatric patient.

• 发表时间: Sep-Oct 2019
• 来源期刊: J Orthop
• DOI: 10.1016/j.jor.2019.06.023
• PMID: 31528051
• 文章类型: Journal Article
• 作者列表: Willacy RA,Clemmons JA,Oyetan O,Khaleel IM,Salib CG,Wilson RH

关键词: Candle wax appearance; Contractures; Hyperostosis; LEMD3 gene; MAPK21 oncogene; Melorheostosis; Mesenchymal dysplasia

Abstract

Melorheostosis, a rare mesenchymal dysplasia of bone, generally affects about 0.001% of people globally with about 400 cases total being reported. Melorheostosis of the hand, especially in the pediatric population, has been seldom reported. Previous studies have investigated potential genetic mutations associated with melorheostosis however, questions still remain regarding effective treatment options for this disease. This case report describes a unique case of pediatric melorheostosis of the hand and further clarifies current theories on melorheostosis with regards to pathogenesis, best treatment practices, and future research.