Adult ; Female ; Humans ; Lymphadenitis ; complications ; diagnosis ; pathology ; Positron-Emission Tomography ; Urticaria ; etiology ; Vitiligo ; etiology

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of fever and serosal, synovial, or cutaneous inflammation, caused by a dysfunction of pyrin as a result of mutation within the MEFV gene. It occurs mainly among Mediterranean and Middle Eastern populations, including Jews, Arabs, and Turks. However, FMF cases have been reported outside the Mediterranean and Middle Eastern countries in recent years. Although FMF has been relatively rare in Korea until now, proper recognition of FMF might lead to more frequent diagnoses of FMF. We experienced an interesting case, a 31-year-old Korean man who presented with recurrent abdominal pain with fever and urticarial eruption for 10 years. DNA analysis showed complex mutations (p.Leu110Pro, p.Glu148Gln) in the MEFV gene. To date, three cases have been reported, and this case of FMF with skin conditions is the first case in Korea.
Abdominal Pain/*etiology ; Adult ; Base Sequence ; Cytoskeletal Proteins/genetics ; Familial Mediterranean Fever/complications/*diagnosis/genetics ; Humans ; Male ; Polymorphism, Single Nucleotide ; Recurrence ; Sequence Analysis, DNA ; Urticaria/*diagnosis

Urticarial vasculitis is characterized clinically by urticarial skin lesions and histologically by leukocytoclastic vasculitis. Hypocomplementemic urticarial vasculitis is associated with connective tissue diseases such as systemic lupus erythematosus (SLE). We report a case of urticarial vasculitis that preceded manifestations of SLE.
Anti-Infective Agents/therapeutic use ; Anti-Inflammatory Agents/therapeutic use ; Diagnosis, Differential ; Female ; Humans ; Lupus Erythematosus, Systemic/*diagnosis/etiology/pathology ; Middle Aged ; Recurrence ; Skin/pathology ; Urticaria/complications/*diagnosis ; Vasculitis, Hypersensitivity/complications/*diagnosis/pathology

Restless legs syndrome (RLS) is a disease characterized by the urge to move the legs and sleep disturbances. Similarly, chronic spontaneous urticaria (CSU) is a dermatological disease characterized by pruritus and sleep disorders. In this study, we aimed to determine the prevalence and severity of RLS in patients with chronic spontaneous urticaria (CSU) and to compare the quality of sleep of patients with and without RLS in the CSU group using the Pittsburgh Sleep Quality Index. A total of 130 patients with CSU and 100 healthy controls were included in this study. The frequency of RLS, frequency of sleep disturbances, and average score of RLS in patients with CSU were statistically significantly higher than control groups (respectively P = 0.008, P = 0.009, P = 0.004). Subjective sleep quality, sleep latency and habitual sleep efficiency scores in patients with RLS were statistically significantly higher than patients without RLS (respectively P = 0.016, P = 0.007, P = 0.035). We claimed that pruritus of urticaria may decrease the quality of sleep in patients with RLS and it may trigger and worsen the restless legs syndrome. Furthermore, RLS and CSU may share a common etiology.
Adult ; Case-Control Studies ; Cross-Sectional Studies ; Female ; Humans ; Male ; Middle Aged ; Prevalence ; Restless Legs Syndrome/*complications/epidemiology/pathology ; Severity of Illness Index ; Sleep Wake Disorders/etiology ; Urticaria/*complications/diagnosis

OBJECTIVENeonatal-onset multisystem inflammatory disease (NOMID) is not widely recognized in China. This study aimed to investigate the diagnosis and treatment of NOMID.

METHODTo analyze the clinical characteristics and laboratory results including skin biopsy, gene analysis and serum interleukin 1β of a boy admitted to Peking University First Hospital in November of 2013. Reports on NOMID were searched and the clinical and laboratory characteristics of reported cases were summarized.

RESULTThe patient was a 1-year-old boy. He had urticaria since 2 days after birth, and presented with episodes of fever, aseptic meningitis, symptoms of joints, short statue, hearing loss, abnormal fundus findings, and leucocytosis, high level of c-reactive protein (CRP) and abnormal findings of head MRI including ventriculomegaly and white matter dysplasia. Urticaria was confirmed by skin biopsy. Gene analysis showed T1702T/A in exon 4 of NLRP3 gene, which causes Phe568lle. Serum interleukin 1β increased dramatically. The boy was diagnosed as NOMID. He did not respond to antibiotic therapy and anti-allergy therapy. Corticosteroid therapy induced normalization of body temperature, and alleviation of rash, but not improvement in cerebrospinal fluid cell numbers. After searching reports of NOMID at PubMed, and Chinese literature published before November 2013, we summarized cases from 8 reports and reviewed 148 cases. The results showed that fever, urticaria, meningitis and arthropathy are the most common manifestations of NOMID, only 57% (69/122) of patients had mutation of NLRP3.

CONCLUSIONThis is a rare report of NOMID in children in China. Fever, urticaria, aseptic meningitis and persistently high level of CRP are characteristics of NOMID. Gene analysis and serum interleukin-1β detection can aid in diagnosis.

C-Reactive Protein ; analysis ; Carrier Proteins ; genetics ; China ; Cryopyrin-Associated Periodic Syndromes ; complications ; diagnosis ; therapy ; Fever ; etiology ; Humans ; Infant ; Interleukin-1beta ; blood ; Joint Diseases ; etiology ; Male ; Meningitis, Aseptic ; etiology ; Mutation ; NLR Family, Pyrin Domain-Containing 3 Protein ; Urticaria ; etiology