OBJECTIVE: To explore the genetic basis for a patient with clinically suspected neurofibromatosis type I, alopecia areata and vitiligo. METHODS: Variant of the NF1 gene was detected by chip capture and high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the family trio. RESULTS: The patient was found to harbor a novel missense c.1885G>A (p.Gly629Arg) variant of the NF1 gene, for which neither parent was carrier. The variant was not recorded in the public database. Based on the guidelines for genetic variation of the American College of Medical Genetics and Genomics, the c.1885G>A missense variant was predicted to be pathogenic (PS1+PS2+PM2+PP3+PP4). CONCLUSION The c.1885G>A missense variant probably underlay the disease in this child. Above finding has enriched the spectrum of the NF1 gene variants.
Alopecia Areata/genetics* ; Child ; Genomics ; Humans ; Mutation ; Neurofibromatosis 1/genetics* ; Vitiligo/genetics*

BACKGROUNDWe constructed a cDNA subtractive library of dermal papilla cells (DPCs) in anagen with suppression subtractive hybridization (SSH) technique and clone differentially expressed genes related to DPCs in anagen.

METHODSTotal mRNA was isolated from DPCs of anagen and telogen follicles. Moreover, single-strand (ss) and double-strand (ds) cDNAs were synthesized in turn using SMART PCR cDNA synthesis technology. ds cDNAs then were digested with Rsa I and divided into two groups, and ligated to the specific adaptor 1 and adaptor 2R, respectively. After cDNAs were hybridized with each other twice and underwent two rounds of nested PCR. PCR products were ligated with arms of T/A plasmid vectors to set up the subtractive library. Selected clones were demonstrated by reverse Northern blot and sequenced. The acquired sequence data were aligned against the Genbank nucleotide database.

RESULTScDNA subtractive library of DPCs in anagen follicles was set up successfully with high subtractive efficiency. Thirty-five genes were identified in this study with 22 known functional genes and 13 unknown functional genes.

CONCLUSIONSAll results confirm the effectiveness and sensitivity of SSH in detecting differentially expressed genes from a small amount of clinical samples. Information about such alterations in gene expression could be useful for elucidating the genetic events in hair follicle growth regulation.

Adult ; Alopecia Areata ; genetics ; DNA, Complementary ; analysis ; Female ; Gene Library ; Hair ; Hair Follicle ; chemistry ; Humans ; Nucleic Acid Hybridization ; Polymerase Chain Reaction

Monocyte chemoattractant protein-1 (MCP-1) levels are increased in scalp lesions of patients with alopecia areata (AA), suggesting a role in the development of AA. Recently, a biallelic A/G polymorphism in the MCP-1 promoter at position -2518 has been found, influencing the level of MCP-1 expression in response to an inflammatory stimulus. We investigated whether the presence of these polymorphisms were associated with AA in Korean population. 145 Korean patients with AA, 246 healthy subjects without clinical evidence of AA were screened for genotype with a PCR-based assay. In the AA patients the frequency of the A and G alleles was 40.3 and 59.7%, respectively and the distribution of the A/A, A/G and G/G genotypes was 19.3, 42.1 and 38.6%, respectively. Amongst the controls the frequency of the A and G alleles was 39.8 and 60.2%, and the distribution of the A/A, A/G, G/G genotypes in the same group was 17.5, 44.7 and 37.8%, respectively. There was no significant difference in the allele frequencies and genotype distributions between the patients and the controls (p=0.889, p=0.848, respectively). Our data indicates that no association exists between the -2518A/G polymorphism of the MCP-1 gene and susceptibility to alopecia areata.
Adolescent ; Adult ; Alleles ; Alopecia Areata/*genetics ; Case-Control Studies ; Female ; Gene Frequency ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Korea ; Male ; Middle Aged ; Monocyte Chemoattractant Protein-1/*genetics ; *Polymorphism, Single Nucleotide ; Promoter Regions (Genetics)/*genetics

OBJECTIVETo investigate serum cortisol level and glucocorticoid receptors (GR) mRNA expression in peripheral blood mononuclear cells (PBMCs) in patients with severe alopecia areata and liver-kidney deficiency syndrome and their involvement in the pathogenesis of severe alopecia areata.

METHODSIn 32 patients with severe alopecia areata, serum cortisol levels were measured by chemiluminescence assay and GR mRNA expression in the PBMCs was detected using reverse transcription real-time fluorescence quantitative PCR before and after treatment, with 20 normal subjects serving as the controls.

RESULTSSerum cortisol level showed no significant difference between the cases and the normal controls (P>0.05). The expression of GR mRNA in the PBMCs was significantly lower in the patients than in the normal controls (P<0.05). The expression of GR mRNA was even lower after treatments in patients with alopecia areata (P<0.01).

CONCLUSIONSGC-GR disorder exists in severe alopecia areata. A decreased GR mRNA expression in the PBMCs can be involved in the pathogenesis of severe alopecia areata, and such pathological changes at the receptor and genetic levels might also serve as the microscopic basis of liver-kidbey deficiency syndrome in severe alopecia areata.

Adult ; Alopecia Areata ; blood ; Case-Control Studies ; Diagnosis, Differential ; Female ; Humans ; Hydrocortisone ; blood ; Leukocytes, Mononuclear ; metabolism ; Male ; Medicine, Chinese Traditional ; Middle Aged ; RNA, Messenger ; genetics ; metabolism ; Receptors, Glucocorticoid ; genetics ; metabolism ; Young Adult

OBJECTIVETo investigate the regulatory effect of procyanidins (PC) on the expressions of Th1 type cytokines (IFN-gamma and IL-12) and the transcription factor T-bet mRNA in peripheral blood mononuclear cell (PBMC) in patients with alopecia areata (AA).

METHODSAbove-mentioned expressions were detected using RT-PCR technique in 20 AA patients (8 of mild and 12 of severe degree) and 10 healthy subjects after phytoaemagglutinin (PHA) or PHA + PC stimulation.

RESULTSAfter being stimulated by PHA and PHA + PC, in patients with severe AA, the expression of T-bet mRNA was 0.581 +/- 0.148 and 0.419 +/- 0.113 respectively; that of IFN-gamma mRNA, 0.689 +/- 0.219 and 0.430 +/- 0.162; and that of IL-12 mRNA, 0.198 +/- 0.056 and 0.136 +/- 0.035, respectively. As compared with those before stimulation, the respective difference was statistically significant (P < 0.05).

CONCLUSIONSPC can inhibit the expressions of Th1 type cytokines and transcription factor T-bet in PBMC of severe AA patients, and reverse the Th1 responses. The authors offered that it maybe part of the acting mechanism of pine needle for treatment of AA.

Adolescent ; Adult ; Alopecia Areata ; drug therapy ; genetics ; immunology ; Case-Control Studies ; Cells, Cultured ; Gene Expression ; drug effects ; Humans ; Interferon-gamma ; genetics ; immunology ; Interleukin-12 ; genetics ; immunology ; Leukocytes, Mononuclear ; drug effects ; immunology ; Male ; Middle Aged ; Proanthocyanidins ; administration & dosage ; T-Box Domain Proteins ; genetics ; immunology ; Young Adult

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