Radiation therapyAll current treatments have had varying degrees of success. The vinca alkaloids and anthracyclines have been used most commonly in ECD treatment. Prognosis
Erdheim–Chester disease was previously associated with high mortality rates. In 2005, the survival rate was below 50% at three years from diagnosis. More recent reports of patients treated with Interferon therapy describe an overall 5-year survival of 68%. Long-term survival is currently even more promising, although this impression is not reflected in the recent literature. More recent studies have reported that patients receiving targeted therapies showed no disease progression. It was concluded that targeted therapies (BRAF and/or MEK inhibitors) were dramatically efficacious. Epidemiology
Approximately 500 cases have been reported in the literature to date. ECD affects predominantly adults, with a mean age of 53 years. History
The first case of ECD was reported by the American pathologist William Chester in 1930, during his visit to the Austrian pathologist Jakob Erdheim in Vienna. Society and culture
The Erdheim–Chester Disease Global Alliance is a support and advocacy group with the goal of raising awareness of and promoting research into ECD. ECD families and patients are also supported by the Histiocytosis Association, Inc.

Media
In the TV show House, season 2 episode 17, "All In", the final diagnosis of a 6-year-old boy who presents with bloody diarrhea and ataxia is Erdheim–Chester disease. References
Further reading
External links
01067 at CHORUS
Spondylo-ocular syndrome is a rare genetic disorder characterised by lesions in the eye and the spine. Presentation
These can be divided into those affecting the eyes, spine and other areas:

Genetics
This syndrome is caused by inactivating mutations in the xylosyltransferase (XYLT2) gene. It is inherited in an autosomal recessive manner. Diagnosis
Treatment
History
This syndrome was first described by Schmidt et al in consanginous Iraqi family in 2001. References


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