Familial expansile osteolysis

Definition:

Familial expansile osteolysis (FEO) is a rare autosomal dominant disorder causing bone dysplasia. It is characterized by increased osteoclast activity, medullary expansion, and hearing and dental problems. The mutations in the TNFRSF11A gene encoding RANK have been identified. FEO is similar in some respects to Paget's disease but distinct enough in its clinical, radiological and histological findings to be classified as a separate disease.

References:

[1]. Dean Grant Topham, et al. Familial expansile osteolysis: An Australian case report of a Paget's Disease Mimic. J Med Imaging Radiat Oncol. 2016 Jun;60(3):370-3. [Content Brief]

[2]. Elahe Elahi, et al. Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation. J Bone Miner Metab. 2007;25(3):159-64. [Content Brief]

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