Abstract:
:Erdheim-Chester disease is a rare infiltrative histiocytic disorder with around 800 cases being reported worldwide. Patients most commonly present with skeletal pain, but the condition has been shown to affect multiple other organs. We describe a rare presentation in which the disease infiltrated the sinuses and affected an ex-RAF pilot's vision. After extensive investigation of the elusive diagnosis, repeating of a molecular test using polymerase chain reaction analysis allowed for identification of a mutation (BRAF V600) ultimately leading to the diagnosis of Erdheim-Chester disease.
journal_name
Ann R Coll Surg Engljournal_title
Annals of the Royal College of Surgeons of Englandauthors
Lee JDE,Gill C,Muzaffar J,Ahmed S,Amel-Kashipaz Rdoi
10.1308/rcsann.2019.0130subject
Has Abstractpub_date
2020-02-01 00:00:00pages
e42-e44issue
2eissn
0035-8843issn
1478-7083journal_volume
102pub_type
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