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Melorheostosis: a Rare Sclerosing Bone Dysplasia

  • Rare Bone Disease (C Langman and E Shore, Section Editors)
  • Published:
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Abstract

Purpose of Review

Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition.

Recent Findings

Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series. Melorheostosis affects the appendicular skeleton more commonly than the axial skeleton and usually presents with lower limb deformity. Diagnosis is based on a combination of clinical and radiological features that help differentiate this condition from other sclerosing bone dysplasias. LEM domain-containing protein 3 (LEMD3) gene mutations have been demonstrated in several familial cases, but these have been more strongly correlated with other hereditary dysplasias, such as osteopoikilosis, and are not thought to be the causative gene for melorheostosis. The exact etiology of classic sporadically occurring melorheostosis remains unknown, with possible causes being somatic LEMD3 mutations, somatic mutations in the bone morphogenetic protein/transforming growth factor-beta pathway, mutations in multiple genes, or other non-genetic causes. Management in recent years has involved nitrogen-containing bisphosphonates in addition to traditional orthopedic surgical approaches and physical therapy.

Summary

Melorheostosis may present as mixed or atypical osseous involvement in addition to the classically described “dripping candle wax” appearance of hyperostosis. Some patients may have overlap with osteopoikilosis or Buschke–Ollendorff syndrome. In the future, better characterization of genetic and developmental factors predisposing to melorheostosis may lead to the development of targeted therapy for this condition, as well as for more commonly encountered skeletal abnormalities.

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Authors and Affiliations

  1. Mayo Clinic, E18-A, 200 1st Street SW, Rochester, MN, 55905, USA

    Anupam Kotwal & Bart L. Clarke

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  1. Anupam Kotwal
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  2. Bart L. Clarke
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Correspondence to Bart L. Clarke.

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Bart Clarke and Anupam Kotwal declare no conflict of interest.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Rare Bone Disease

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Kotwal, A., Clarke, B.L. Melorheostosis: a Rare Sclerosing Bone Dysplasia. Curr Osteoporos Rep 15, 335–342 (2017). https://doi.org/10.1007/s11914-017-0375-y

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