Analysis of genetic variant in a case of sporadic neurofibromatosis type I with alopecia areata and vitiligo / 中华医学遗传学杂志

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.

Reporte de manejo exitoso con simvastatina y ezetimibe en alopecia areata / A report of successful management with simvastatin plus ezetimibe in alopecia areata

La alopecia areata es un tipo común de alopecia no cicatricial. Aunque la patogénesis exacta permanece sin dilucidar, se piensa que la alopecia areata tiene una etiología multifactorial en donde se interrelacionan predisposición genética y factores ambientales. En pacientes susceptibles, se han documentado que el estrés, infecciones y microtraumas disminuyen las citoquinas inmunosupresoras que normalmente mantienen el privilegio inmune del folículo piloso. Actualmente no hay terapia curativa para la alopecia areata, aunque ciertos tratamientos pueden inducir el crecimiento del cabello en un porcentaje de pacientes. Se postula que la simvastatina restablece el privilegio inmune y ezetimibe aportaría un efecto inmunomodulador y antiinflamatorio. Se presenta el caso de una mujer de 23 años con alopecia areata, exitosamente tratada con simvastatina y ezetimibe.

Alopecia areata is a common type of non-scarring alo¬pecia. Although the exact pathogenesis remains elusive, alopecia areata is thought to have a multifactorial etiology described as an interplay of genetic predisposition and environmental exposures. In patients with genetic susceptibility, stress, infection, and microtrauma have been documented to decrease immunosuppressive cytokines that generally maintain the hair follicle's immune privilege. There is currently no curative therapy for alopecia areata, although some treatments can induce hair growth in a percentage of patients. It has been postulated that simvastatin reestablishes the immune privilege, and ezetimibe would provide an immunomodulatory and anti-inflammatory effect. We report a case of a 23 years-old woman with alopecia areata successfully treated with simvastatin/ezetimibe.

CTLA4 +49AG (rs231775) and CT60 (rs3087243) gene variants are not associated with alopecia areata in a Mexican population from Monterrey Mexico

Abstract Background: Alopecia areata is an autoimmune disease that produces non-scarring hair loss around the body. Gene variants of the cytotoxic T-lymphocyte antigen 4 (CTLA4) gene, a negative regulator of T-cell response, have been associated with a predisposition to autoimmune diseases in different populations; however, the involvement of these genetic variants in the development of AA is controversial. Objective: The present study evaluated the potential association of two CTLA4 gene variants with alopecia areata in a Mexican population. Methods: We genotyped +49AG (rs231775) and CT60 (rs3087243) variants in 50 AA patients and 100 healthy control participants through PCR-RFLP. Results: No statistical difference was observed for either of the gene variants regarding allele or genotype frequencies between AA patients and the controls when the parameters of family/personal history of autoimmune diseases or gender were considered (p > 0.05). Study limitations: Small sample size of patients and the data were obtained from Northeast Mexico population. Conclusion: The genetic variants rs231775 and rs3087243 of the CTLA4 gene are not a risk factor for the development of alopecia areata in the analyzed Mexican population.

Lack of association between alopecia areata and HLA class I and II in a southeastern Brazilian population

Abstract: Background: Alopecia areata (AA) is a common disorder of unknown etiology that affects approximately 0.7% to 3.8% of patients among the general population. Currently, genetic and autoimmune factors are emphasized as etiopathogenic. Studies linking Human Leukocyte Antigens (HLA) to AA have suggested that immunogenetic factors may play a role in the disease's onset/development. Objectives: To investigate an association between AA and HLA class I/II in white Brazilians. Methods: Patients and control groups comprised 33 and 112 individuals, respectively. DNA extraction was performed by column method with BioPur kit. Allele's classification was undertaken using the PCR-SSO technique. HLA frequencies were obtained through direct counting and subjected to comparison by means of the chi-square test. Results: Most patients were aged over 16, with no familial history, and developed partial AA, with no recurrent episodes. Patients showed a higher frequency of HLA-B*40, HLA-B*45, HLA-B*53 and HLA-C*04 compared with controls, although P was not significant after Bonferroni correction. Regarding HLA class II, only HLA-DRB1*07 revealed statistical significance; nevertheless, it featured more prominently in controls than patients (P=0.04; Pc=0.52; OR=0.29; 95%; CI=0.07 to 1.25). P was not significant after Bonferroni correction. Conclusions: The development of AA does not seem to be associated with HLA in white Brazilians, nor with susceptibility or resistance. The studies were carried out in populations with little or no miscegenation, unlike the Brazilian population in general, which could explain the inconsistency found.

Analysis of the Monocyte Chemoattractant Protein 1 -2518 Promoter Polymorphism in Korean Patients with Alopecia Areata

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.

Actualizaciones en alopecia areata / Alopecia areata updates

La alopecia areata es una enfermedad dermatológica caracterizada por áreas o parches de alopecia con bordes netos en cuero cabelludo (principalmente) y resto del cuerpo. Es no cicatricial y tiene un curso impredecible, incluso la involución espontánea. Corresponde al 2 por ciento de las consultas dermatológicas. Puede asociarse a alteraciones autoinmunes como la tiroiditis de Hashimoto, vitíligo y atopia. Hasta una 20 por ciento de los pacientes tienen antecedentes familiares de la enfermedad. Actualmente puede tratarse con corticoides intralesionales, inmunoterapia tópica o sistémica, antralina, minoxidil y fotoquimioterapia. El tratamiento y la evolución dependen principalmente de dos factores: extensión y la edad de los pacientes.

Alopecia areata: aspectos epidemiológicos etiopatogenicos e inmunológicos / Alopecia areata: epidemiologic aspects aetiopatogenics a immunological

La alopecía areata es un motivo de consulta habitual, afecta a ambos sexos, su mayor incidencia se encuentra entre los 20 y los 50 años. Se caracteriza por el taque de los folículos pilosos en anágeno. Si bien no es posible definir una causa concreta se reconoce la importancia de los mecanismos autoinmunes. En los últimos años se han logrado importantes avances en lo que se refiere a marcadores genéticos, rol de las citoquinas y en estudios sobre la papila como posible blanco de la enfermedad. Se reseñan los factores genéticos, psicológicos, neurológicos, vasculares e infecciosos presuntamente implicados.

Clínica de la alopecía areata / Clinical of the alopecia areata

Se describen las características clínicas más importantes de la alopecía areata, los diferentes tipos de pelo y los subtipos clínicos clásicos: aa comun o vulgar, ofiásica y la generalizada-total. Otras clasificaciones por sus sociaciones estadísticas al igual que la concomitancia con otras entidades, autoinmunes,atopía y el factor psíquico son mencionadas y discutidas.