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Coexistence of Two Rare Genetic Disorders: Familial Mediterranean Fever and Neurofibromatosis Type 1 in a Child
2015
Journal:  
Cukurova Medical Journal
Author:  
Abstract:

Familial Mediterranean fever (FMF) is an autosomal recessive polysystemic disease characterized by attacks of relapsing and self-limiting fever, peritonitis, pleuritis and arthritis. Café-au lait macules, neurofibromas, axillary and inguinal freckling, Lisch nodules, bone lesions such as sphenoid dysplasia, and optic glioma are the characteristic features of neurofibromatosis type 1 (NF1) disease. In this case report, a 7 year-old girl with NF1 and FMF is presented. She had intermittent fever, abdominal and joint pain attacks lasting 2-3 days every two-three months since 1 year. We detected many cafe-au lait spots and axillary freckles on her body and diagnosed FMF and NF1.

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Cukurova Medical Journal

Field :   Sağlık Bilimleri

Journal Type :   Uluslararası

Metrics
Article : 2.296
Cite : 1.845
2023 Impact : 0.075
Cukurova Medical Journal