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- Title
Diagnosing Camurati–Engelmann disease—the age of whole-exome sequencing.
- Authors
Nagra, Deepak; Russell, Mark D; Alveyn, Edward; Birring, Surinder S; Elias, David; Balachandran, Sathiyaa; Galloway, James B
- Abstract
The article describes the case of a 56-year-old male with disease distribution including cutaneous, pulmonary, bone and ocular lesions. Topics discussed include confirmation of diagnosis of Camurati-Engelmann disease with histological evidence of granulomatous inflammation on lymph node biopsy, basis of the original diagnosis of sarcoid bone involvement, and the discovery of an alternative cause for his skeletal lesions and pain.
- Subjects
SEQUENCE analysis; OSTEOCHONDRODYSPLASIAS; RADIOPHARMACEUTICALS; POSITRON emission tomography; DEOXY sugars
- Publication
Rheumatology, 2023, Vol 62, Issue 7, pe221
- ISSN
1462-0324
- Publication type
Article
- DOI
10.1093/rheumatology/keac670