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

J Orthop. 2019 Jun 24;16(5):451-453. doi: 10.1016/j.jor.2019.06.023. eCollection 2019 Sep-Oct.

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.

Keywords: Candle wax appearance; Contractures; Hyperostosis; LEMD3 gene; MAPK21 oncogene; Melorheostosis; Mesenchymal dysplasia.