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[Sarcoidosis synchronously detected in identical twins]
H Nakamura1, T Hashimoto, K Kashiwabara
1Fifth Department of Internal Medicine, Tokyo Medical College, Ibaraki, Japan.
This study details the simultaneous diagnosis of sarcoidosis in identical twins, highlighting potential genetic factors in this rare condition. Both twins presented with similar symptoms and findings, underscoring the role of genetics in sarcoidosis.
Area of Science:
- Immunology
- Genetics
- Pulmonology
Background:
- Sarcoidosis is an inflammatory disease characterized by granuloma formation.
- Genetic predisposition is suspected in sarcoidosis development.
- Synchronous sarcoidosis in identical twins is exceptionally rare.
Observation:
- Identical 22-year-old male twins presented with synchronous symptoms of sarcoidosis, including fever, cough, and abnormal chest imaging.
- Both twins exhibited cervical and hilar lymphadenopathy and bilateral lung lesions.
- Ocular involvement (bilateral uveitis) was noted in only the elder twin.
Findings:
- Histopathological examination of cervical lymph nodes revealed epithelioid cell granulomas without caseous necrosis, confirming sarcoidosis.
- Both twins were positive for HLA-D antigens DR 2 and DR 12.
- Neither twin was positive for the HLA antigen DRw 52, which is common in Japanese sarcoidosis patients.
Implications:
- The synchronous occurrence suggests a strong genetic component in sarcoidosis susceptibility.
- Further research into specific human leukocyte antigen (HLA) associations is warranted.
- This case provides valuable insight into the genetic underpinnings of sarcoidosis.
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