A case of spinal melorheostosis

Author:

Leong Alban Wei Shern1,Langdon James2,Malhotra Vivek3,Mandalia Uday3

Affiliation:

1. Trust Grade, Watford General Hospital, Watford, Hertfordshire, United Kingdom,

2. Department of Orthopaedics, Watford General Hospital, Watford, Hertfordshire, United Kingdom,

3. Department of Radiology, Watford General Hospital, Watford, Hertfordshire, United Kingdom

Abstract

Melorheostosis is a rare bone dysplasia of unknown etiology with an incidence of 0.9 cases per million. It typically affects the upper or lower limbs and can cause severe deformity and functional impairment. Diagnosis is radiological and is often described as a “flowing candle wax” appearance on the radiograph. Treatment is individualized depending on the site and severity of symptoms. We report a rare case of spinal melorheostosis. We demonstrate the imaging features of melorheostosis on CT and MRI. We discuss the classification, genetics, and management of this condition.

Publisher

Scientific Scholar

Reference14 articles.

1. Une afection non décrite des os hyperostose “en coulée” sur toute la longeur d’un member ou “melorhéostose”;Leri;Bull Mem Soc Med Hop Paris,1922

2. Melorheostosis;Clifford;Am J Orthop (Belle Mead NJ),2009

3. Severe Melorheostosis Involving the Ipsilateral Extremities;Long;Clin Orthop Relat Res,2009

4. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis;Hellemans;Nat Genet,2004

5. Somatic activating mutations in MAP2K1 cause melorheostosis;Kang;Nat Commun,2018

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