Melorheostosis

a Rare Sclerosing Bone Dysplasia

Anupam Kotwal, Bart Clarke

Research output: Contribution to journalReview article

16 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)335-342
Number of pages8
JournalCurrent Osteoporosis Reports
Volume15
Issue number4
DOIs
StatePublished - Aug 1 2017

Fingerprint

Melorheostosis
Developmental Bone Disease
Osteopoikilosis
Mutation
Skeleton
Hyperostosis
Bone Morphogenetic Proteins
Waxes
Diphosphonates
Natural History
Causality
Transforming Growth Factor beta
Genes
Orthopedics
Lower Extremity
Nitrogen

Keywords

  • Bone dysplasia
  • Hyperostosis
  • Melorheostosis
  • Sclerotomal distribution

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

Cite this

Melorheostosis : a Rare Sclerosing Bone Dysplasia. / Kotwal, Anupam; Clarke, Bart.

In: Current Osteoporosis Reports, Vol. 15, No. 4, 01.08.2017, p. 335-342.

Research output: Contribution to journalReview article

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