Coexistence Of Two Rare Genetic Disorders: Familial Mediterranean Fever And Neurofibromatosis Type 1 In A Child

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 dy...

Full description

Saved in:
Bibliographic Details
Published inCukurova Medical Journal Vol. 40; no. 1
Main Authors Yılmaz,Mustafa Volkan, Hergüner,Mihriban Özlem, Altunbaşak,Şakir, İncecik,Faruk, Beşen,Şeyda, Haytoğlu,Zeliha Uçar
Format Journal Article
LanguageEnglish
Published Çukurova Üniversitesi Tıp Fakültesi 01.01.2015
Subjects
Tıp
Adana
Türkiye
coexistence
Ailevi Akdeniz Ateşi
nörofibromatozis tip 1
neurofibromatosis type 1
Familial Mediterranean fever
bir arada olma
Online AccessGet full text

Cover

More Information
Summary: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.
ISSN:2602-3032
2602-3040