Familial expansile osteolysis

Classification according to ICD-10
M89.5	Osteolysis
ICD-10 online (WHO version 2019)

The familial expansile osteolysis ( FEO , McCabe's disease ) is a rare autosomal dominant disorder. It is characterized by areas of increased bone remodeling with increased osteoblast and osteoclast activity . Hughes et al. found that the responsible mutation is located in the gene for RANK . Two different insertion mutations have been described in the first exon of the RANK gene in families affected by FEO.

Symptoms

Symptoms are:

• Joint pain
• Weak bones
• Painfully deformed limbs
• Broken bones
• Bone pain
• Hearing loss
• Tooth loss

See also

• Osteodystrophia deformans (Paget's disease)

Individual evidence

1. ↑ AE Hughes, SH Ralston et al. a .: Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. In: Nature genetics. Volume 24, Number 1, January 2000, pp. 45-48, doi : 10.1038 / 71667 , PMID 10615125 .
2. ↑ Jürgen Spranger, congenital developmental disorders of the skeleton , researchgate.net, 2007, p. 1625. Accessed on February 15, 2019. doi : 10.1007 / 978-3-540-76460-1_236

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !