Human Leukocyte Antigen (HLA) typing of large groups of patients with various autoimmune diseases has demonstrated that some HLA alleles occur at higher frequencies in specific diseases than in the general population. Chronic urticaria has been shown to have an autoimmune basis by a previous study which found an association between chronic urticaria and specific HLA groups. We investigated the HLA subtypes of Turkish chronic urticaria patients. For this purpose 42 Turkish patients with chronic urticaria and 115 healthy controls were typed for HLA-DR and DQ by PCR-SSP (Polymerase Chain Reaction Sequence Specific Primers) low resolution DNA technique. We found an increased frequency of DR4 (42.9%, p=0.01) in chronic urticaria patients in comparison with that in healthy controls. This study supports the hypothesis that HLA alleles may be involved in the pathogenesis of chronic urticaria and that they appear to be directly involved in the initiation of the immune response.
Chronic Disease ; HLA-DQ Antigens/genetics ; HLA-DR Antigens/genetics ; HLA-DR4 Antigen/genetics ; Histocompatibility Antigens Class II/*genetics ; *Histocompatibility Testing ; Human ; Urticaria/*genetics/*immunology

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

The genetic mechanism of aspirin intolerant acute urticaria (AIAU) is unknown. To demonstrate an association between the beta2 adrenergic receptor (ADRB2) polymorphism and the phenotype of AIAU, one hundred fourteen patients with AIAU, 110 patients with aspirin intolerant chronic urticaria (AICU), and 498 normal healthy controls (NC) based on a Korean population were enrolled. The genotype of ADRB2 at 46 A > G was analyzed using a direct sequencing method. The ADRB2 polymorphism at 46 A > G showed a significant difference between AIAU and NC; the frequency of the major genotype was significantly higher in the AIAU group (p= 0.017 in recessive model), while no differences were noted in allele and genotype frequencies between AICU and NC. In conclusion, the ADRB2 (46 A > G) gene polymorphism may contribute to the development of the phenotype of AIAU.
Adult ; Aspirin/*adverse effects ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Middle Aged ; Phenotype ; *Polymorphism, Single Nucleotide ; Receptors, Adrenergic, beta-2/*genetics ; Urticaria/chemically induced/*genetics/pathology

The pathogenesis of aspirin (acetylsalicylic acid, ASA)-intolerant urticaria (AIU) is still poorly understood but it has recently been suggested that it is associated with the overproduction of leukotriene (LT). This is supported by evidence that cyclooxygenase 2 inhibitor is given safely to patients with AIU. The present study was designed to investigate the role of genetic polymorphism of LT related genes in the pathogenesis of AIU via a case-control study. We screened single nucleotide polymorphisms (SNPs) in genes encoding enzymes involved in leukotriene synthesis in the Korean population with AIU (n=101), ASA-intolerant asthma (AIA, n=95) and normal healthy controls (n=123). Genotype was determined by primer extension reactions using the SNapShot ddNTP primer extension kit. Among 8 SNPs of four LT related genes, the polymorphism of ALOX5 at positions of -1708 G>A showed significant difference in genotype frequency between AIU and AIA (p=0.01). Furthermore, there were significant differences observed in the frequencies of two ALOX5 haplotypes between the AIU group and AIA group (p<0.05). However, there were no differences in allele, genotype, or haplotype frequencies of ALOX5 between the AIU group and the normal control group. These results suggested that ALOX5 has a differing contribution in two major clinical pathogenesis related to ASA-sensitivity.
Adult ; Arachidonate 5-Lipoxygenase/*genetics ; Aspirin/*adverse effects ; Asthma/etiology/*genetics/metabolism ; Carrier Proteins/genetics ; Case-Control Studies ; Cyclooxygenase 2/genetics ; Female ; Gene Frequency ; Genotype ; Glutathione Transferase/genetics ; Humans ; Leukotrienes/*biosynthesis ; Male ; Membrane Proteins/genetics ; Middle Aged ; Polymorphism, Single Nucleotide ; Research Support, Non-U.S. Gov't ; Urticaria/etiology/*genetics/metabolism

It has been well established that bacterial superantigens lead to the induction and aggravation of chronic inflammatory skin diseases. We investigated the clinical significance of serum specific immunoglobulin E (lgE) to the staphylococcal superantigens staphylococcal enterotoxin A (SEA), staphylococcal enterotoxin B (SEB), and toxic shock syndrome toxin (TSST)-1 in patients with chronic urticaria (CU), focusing on the differences in these prevalences between aspirin-intolerant CU (AICU) and aspirin-tolerant CU (ATCU) patients. Aspirin sensitivity was confirmed by oral aspirin provocation test. There were 66 patients AICU and 117 patients ATCU in the study. Serum IgE antibodies specific for SEA, SEB, and TSST-1 were measured by the ImmunoCAP test and the patients were compared with 93 normal controls (NC). The prevalences of serum specific IgE to staphylococcal superantigens were significantly higher in CU than in NC patients (IgE to SEA, 13.7% vs. 5.4%; IgE to SEB, 12.0% vs. 4.3%; IgE to TSST-1, 18.0% vs. 6.5%; p<0.05, respectively). The patients with specific IgE to SEA, SEB, and TSST-1 had higher serum total IgE levels and higher rates of atopy. Significant associations were noted between the prevalence of specific IgE to SEA and SEB and the HLA DQB1*0609 and DRB1*1302 alleles in the AICU group. We confirmed that a sub-population of patients with CU possesses serum IgE antibodies to SEA, SEB, and TSST- 1. Particularly, the IgE immune response to TSST-1 is associated with aspirin sensitivity in CU patients.
Adolescent ; Adult ; Aged ; Anti-Inflammatory Agents, Non-Steroidal/pharmacology ; Antigens/*chemistry ; Aspirin/pharmacology ; Bacterial Toxins/metabolism ; Chronic Disease ; Enterotoxins/metabolism ; Female ; Humans ; Immunoglobulin E/*chemistry/metabolism ; Male ; Middle Aged ; Phenotype ; Staphylococcus/*genetics/immunology ; Superantigens/metabolism ; Urticaria/*immunology

BACKGROUND: The results of epidemiological studies are different from each other by genetics, social circumstances, climate, geographic localization, etc. There are few reports on prevalence of adolescent dermatoses in Korea. OBJECTIVES: We performed this study to know prevalence of dermatoses of 19-year-old conscriptees in Kangwon province, 2001 and to compare its distribution with results of other studies. METHOD: From Aug. 2001 to Dec. 2001, we have examined 12, 657 men who had visited the Chuncheon Military Manpower Administration for the purpose of physical examination for conscription in Kangwon province. We estimated the total, monthly and regional prevalence of dermatoses and the dermatoses were recorded by rank and analyzed by group of disease and disease itself. RESULTS: A total of 2, 324 patients with 2, 509 dermatological diseases were seen by a dermatologist from August 2001 to December 2001 at the Chuncheon Military Manpower Administration. The prevalence of dermatoses was 18.4%. The monthly number of patients was greatest in August, and September, October, November and December in the right order. The regional prevalence was greatest in Hwachun & Yanggu(33.9%) and the western area of Kangwon province was greater than the eastern area except Youngweol. The frequent dermatoses include acne, tattoo, melanocytic nevus, folliculitis, keratosis pilaris, dermatophytosis, contact dermatitis, bromhidrosis, atopic dermatitis, urticaria, tinea versicolor, other eczema, freckle and melasma, and keloid in the right order, respectively above 1% of total dermatoses. In the distribution of dermatoses as disease groups, diseases of skin appendages(37.6%), dermatoses due to physical agents(16.6%), melanocytic nevi(13.6%), dermatomycosis(8.7%), hereditary skin diseases(7.8%), eczema(6.6%), and pigment anomaly (2.3%) constituted 93.2% of the total. CONCLUSIONS: Prevalence surveillance of the dermatoses in Kangwon province shows that cosmetic diseases such as tattoo, melanocytic nevus and keratosis pilaris are more frequent compared with previous hospital-based study and when compared with soldiers, infectious disease and disease due to physical agent are significantly different.
Acne Vulgaris ; Adolescent ; Climate ; Communicable Diseases ; Dermatitis, Atopic ; Dermatitis, Contact ; Eczema ; Epidemiologic Studies* ; Folliculitis ; Gangwon-do* ; Genetics ; Humans ; Keloid ; Keratosis ; Korea ; Male ; Melanosis ; Military Personnel ; Nevus, Pigmented ; Physical Examination ; Prevalence ; Skin ; Skin Diseases* ; Tinea ; Tinea Versicolor ; Urticaria ; Young Adult

Allergy was originally defined in 1906 in 1906 by Clemens von Pirquet as 'altered reactivity' to denote the different reaction which on second exposure to and antigen due to the formation fo antibodies, when compared to the first exposure. The term atopy decribes the clinical presentation of Type I hypersensitivity, which include asthna, eczema, hay fever and urticaria, These usually occur in subjects with a family history of these or similar conditions. The mechanism of allergy is the Type I hypersensitity reaction. contact with allergen results in its being processed by an antigen presenting cell and presented to T helper cells which then help B cells to IgE antibody. The IgE antibody is rapidly taken up via its Fc portion by mast cells and basophils, which are then senitized. Subsequent contact with same allergen will result in the cross-linking of IgE molecules by their fab portions which cause cell degranulation and mediator release. The contribution of genentic factors to the development of atopy has been an intriguing issue. The exact controlling mechanisms of the genetic factors are unknown, but there are many studies support the genetic controls of the development of atopy. Abnormally high levels of IgE synthesis and associated atopy often run in families. Althouth the full inhritance pattern is probably multigenic, family studies has shown that their is clear autosomal transmission of atopy. The ability to make specific IgE antibodies to certain antigens, e.g., ragweed pollen, is also inherited and may be linked to particular class II major histocompatibility complex alleles. Therefore, I think that the clinicians must consider the environmental and genetic factors when evaluate the atopic disease.
Alleles ; Ambrosia ; Antibodies ; B-Lymphocytes ; Basophils ; Cell Degranulation ; Eczema ; Genetics* ; Humans ; Hypersensitivity* ; Hypersensitivity, Immediate ; Immunoglobulin E ; Major Histocompatibility Complex ; Mast Cells ; Pollen ; Rhinitis, Allergic, Seasonal ; T-Lymphocytes, Helper-Inducer ; Urticaria

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

The pathogenic mechanism of ASA-induced urticaria/angioedema (AIU) is still poorly understood, but it has been known that histamine releasing by cutaneous mast cell activation is considered to be an important role. Considering the importance of histamine in AIU, we speculated that a genetic abnormality of histamine-related genes such as a high-affinity IgE receptor, a metabolic enzyme of histamines and histamine receptors, may be involved in the development of AIU. Enrolled in the study were 110 patients with AIU, 53 patients without ASA hypersensitivity who had various drug allergies presenting as exanthematous skin symptoms, and 99 normal healthy controls (NC). Eleven single nucleotide polymorphisms (SNPs) of the beta chain of the high-affinity IgE receptor (FCER1B) and three histamine-related genes-histamine N-methyltransferase (HNMT), histamine H1 receptor (HRH1), histamine H2 receptor (HRH2)-were screened using the SNP-IT assay based on a single base extension method. No significant differences were observed in allele and genotype frequencies, and haplotype frequencies of all the SNPs of FCER1B, HNMT, HRH1, and HRH2 among the three groups (p>0.05, respectively). These results suggest that the polymorphisms of FCER1B and the three histamine-related genes may not contribute to the development of AIU phenotype in the Korean population.
Adult ; Alleles ; Angioneurotic Edema/chemically induced/*genetics/metabolism ; Aspirin ; Female ; Gene Frequency ; Genotype ; Haplotypes ; Histamine/*metabolism ; Histamine Release/genetics ; Humans ; Linkage Disequilibrium ; Male ; Middle Aged ; *Polymorphism, Single Nucleotide ; Receptors, IgE/*genetics ; Research Support, Non-U.S. Gov't ; Urticaria/chemically induced/*genetics/metabolism

BACKGROUND: The results of epidemiological studies are different from each other by genetics, social circumstances and cultures etc. There are few reports of statistical study about dermatoses in Korean soldiers, especially in Kangwon province. OBJECTIVE: We performed this study to know the profile of the distribution of dermatoses in Korean soldiers in Kangwon province and to compare it with results of other studies. METHODS: From Jan. 1998 to Dec. 1999, the dermatoses of new patients who visited the outpatient department of dermatology in the Chunchon Armed Forces General Hospital are recorded by rank, age and month. They are analyzed by group of disease and disease itself. RESULTS: The total number of outpatients was 2,827. The proportion of new private was 0.9%; private 22.9%; private first class 30.6%; corporal 29.7% and sergeant 15.9%. The age of patients ranges from 18 to 28 years old; 95.5% were between 20 and 23 years old. The seasonal incidence was greatest in summer, and autumn, spring and winter in the right order. The frequent dermatoses were dermatophytosis, contact dermatitis, scabies, ingrowing nail, urticaria, verruca, tinea versicolor, folliculitis, atopic dermatitis, ecthyma, acne, alopecia areata, nummular eczema, corn, cold injury, paronychia, psoriasis, seborrheic dermatitis, herpes zoster, pityriasis rosea, and insect bite in the right order, respectively above 1% of total number of outpatients. The frequent groups of dermatoses were eczema, diseases resulted from fungi and yeasts, disorders due to animal parasites, viral dermatoses, dermatoses due to physical agents, bacterial infections, drug eruption, erythema and urticaria, diseases of the hair, diseases of the nails, diseases of the glands, papulosquamous diseases, and pruritus and neurocutaneous dermatoses in the right order. CONCLUSION: The distinct feature of the dermatoses in soldiers of Kangwon province is the fact of high frequency in contact dermatitis, folliculitis, verruca, ingrowing nail, ecthyma, corn, cold injury, and paronychia and low frequency of acne, seborrheic dermatitis, and urticaria. The percentage of dermatoses due to physical agents is relatively high and that of drug eruption, erythema and urticaria is relatively low. The proportion of total infectious diseases is 40.4%.
Acne Vulgaris ; Adult ; Alopecia Areata ; Animals ; Arm ; Bacterial Infections ; Communicable Diseases ; Dermatitis, Atopic ; Dermatitis, Contact ; Dermatitis, Seborrheic ; Dermatology ; Drug Eruptions ; Ecthyma ; Eczema ; Epidemiologic Studies* ; Erythema ; Folliculitis ; Fungi ; Gangwon-do* ; Genetics ; Hair ; Herpes Zoster ; Hospitals, General ; Humans ; Incidence ; Insect Bites and Stings ; Military Personnel* ; Outpatients ; Parasites ; Paronychia ; Pityriasis Rosea ; Pruritus ; Psoriasis ; Scabies ; Seasons ; Skin Diseases* ; Statistics as Topic ; Tinea ; Tinea Versicolor ; Urticaria ; Warts ; Yeasts ; Young Adult ; Zea mays