RESUMEN

BACKGROUND: Palmoplantar pustulosis is considered to be a localized pustular psoriasis confined to the palms and soles. Mutation of the IL36RN gene, encoding interleukin-36 receptor antagonist (IL-36Ra), is associated with generalized pustular psoriasis, but IL36RN mutations in Chinese palmoplantar pustulosis patients have not previously been investigated. OBJECTIVE: The aim of this study was to evaluate the mutation of IL36RN in Chinese patients with palmoplantar pustulosis. METHODS: Fifty-one Han Chinese patients with palmoplantar pustulosis were recruited. All exons and exon-intron boundary sequences of IL36RN were amplified in polymerase chain reactions, and Sanger sequencing of the amplicons was performed. RESULTS: Among the 51 palmoplantar pustulosis patients, four different single-base substitutions were identified in nine patients. The mutations were c.140A>G/p.Asn47Ser in five patients, c.258G>A/p.Met86IIe in two patients, and c.115+6T>C and c.169G>A/p.Val57IIe in one patient each. All mutations were heterozygous. Comparison with the human genome database and reported literature suggested that these variants may not be pathogenic mutations causing palmoplantar pustulosis. Furthermore, there was no difference in disease severity, onset age, or disease duration between patients with these heterozygous IL36RN variants and those without (p>0.1). STUDY LIMITATION: Lack of the further evaluation of IL36Ra protein in palmoplantar pustulosis lesions. CONCLUSIONS: The four variants of IL36RN identified did not appear to be associated with the specific phenotypes of palmoplantar pustulosis.

Asunto(s)

Interleucinas/genética , Mutación , Psoriasis/genética , Adulto , Análisis del Polimorfismo de Longitud de Fragmentos Amplificados , Pueblo Asiatico/genética , China , Femenino , Dermatosis del Pie/genética , Dermatosis del Pie/patología , Estudios de Asociación Genética , Dermatosis de la Mano/genética , Dermatosis de la Mano/patología , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Psoriasis/patología , Análisis de Secuencia de ADN , Estadísticas no Paramétricas

RESUMEN

Abstract Background: Palmoplantar pustulosis is considered to be a localized pustular psoriasis confined to the palms and soles. Mutation of the IL36RN gene, encoding interleukin-36 receptor antagonist (IL-36Ra), is associated with generalized pustular psoriasis, but IL36RN mutations in Chinese palmoplantar pustulosis patients have not previously been investigated. Objective: The aim of this study was to evaluate the mutation of IL36RN in Chinese patients with palmoplantar pustulosis. Methods: Fifty-one Han Chinese patients with palmoplantar pustulosis were recruited. All exons and exon-intron boundary sequences of IL36RN were amplified in polymerase chain reactions, and Sanger sequencing of the amplicons was performed. Results: Among the 51 palmoplantar pustulosis patients, four different single-base substitutions were identified in nine patients. The mutations were c.140A>G/p.Asn47Ser in five patients, c.258G>A/p.Met86IIe in two patients, and c.115+6T>C and c.169G>A/p.Val57IIe in one patient each. All mutations were heterozygous. Comparison with the human genome database and reported literature suggested that these variants may not be pathogenic mutations causing palmoplantar pustulosis. Furthermore, there was no difference in disease severity, onset age, or disease duration between patients with these heterozygous IL36RN variants and those without (p > 0.1). Study limitation: Lack of the further evaluation of IL36Ra protein in palmoplantar pustulosis lesions. Conclusions: The four variants of IL36RN identified did not appear to be associated with the specific phenotypes of palmoplantar pustulosis.

Asunto(s)

Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Psoriasis/genética , Interleucinas/genética , Mutación , Fenotipo , Psoriasis/patología , China , Análisis de Secuencia de ADN , Estadísticas no Paramétricas , Pueblo Asiatico/genética , Análisis del Polimorfismo de Longitud de Fragmentos Amplificados , Estudios de Asociación Genética , Dermatosis del Pie/genética , Dermatosis del Pie/patología , Dermatosis de la Mano/genética , Dermatosis de la Mano/patología , Heterocigoto

RESUMEN

Onychomycosis is known to have predisposing factors and a high prevalence within families that cannot be explained by within-family transmission. We determined the frequency of HLA-B and HLA-DR haplotypes in 25 families of Mexican patients with onychomycosis in order to define the role of the class II major histocompatibility complex (MHC) in genetic susceptibility to this infection. Seventy-eight subjects participated in the study, 47 with onychomycosis and 31 healthy individuals. The frequencies of the HLA-B and HLA-DR haplotypes were compared with those found in first-degree relatives without onychomycosis and in a historic control group of healthy individuals. The frequencies in the controls were similar to those of the healthy relatives of the patients. However, on comparison of the patients with historic controls, we detected a higher frequency of the HLA-DR8 haplotype (P=.03; odds ratio, 1.89; 95% confidence interval, 0.98-36). These findings suggest that there are polymorphisms in genes of the MHC that increase susceptibility to onychomycosis, particularly haplotype HLA-DR8.

Asunto(s)

Dermatosis del Pie/genética , Genes MHC Clase II , Genes MHC Clase I , Antígenos HLA-B/genética , Antígenos HLA-DR/genética , Dermatosis de la Mano/genética , Onicomicosis/genética , Polimorfismo Genético , Tiña del Cuero Cabelludo/genética , Alelos , Etnicidad/genética , Salud de la Familia , Dermatosis del Pie/epidemiología , Dermatosis del Pie/etnología , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Subtipos Serológicos HLA-DR/genética , Dermatosis de la Mano/epidemiología , Dermatosis de la Mano/etnología , Haplotipos , Humanos , México/epidemiología , Onicomicosis/epidemiología , Onicomicosis/etnología , Tiña del Cuero Cabelludo/epidemiología

RESUMEN

BACKGROUND: Type VII collagen gene (COL7A1) mutations are the cause of dystrophic epidermolysis bullosa (DEB), but most mutations are specific to individual families, and there are limited data on the nature of COL7A1 mutations in certain ethnic populations. OBJECTIVE: To determine the molecular basis of DEB in Hispanic Mexican patients. METHODS: Patients were recruited through a newly established support group, Fundacion DEBRA Mexico. Molecular analysis was performed by polymerase chain reaction (PCR) of genomic DNA using COL7A1-specific primers, heteroduplex analysis, and direct nucleotide sequencing. RESULTS: Fifty-nine of a possible 67 COL7A1 mutations (88%) were identified in 36 affected individuals (31 recessive, five dominant) in 21 families. Recessive mutations included six frameshift mutations, four silent glycine substitutions, and two splice-site mutations. Dominant mutations comprised a de novo glycine substitution and an internal deletion. Conclusions This study establishes the molecular basis of DEB in a group of Mexican patients. Only two of the mutations have been identified previously in other ethnic groups; the remainder are specific to this population. These new data are helpful in facilitating the accurate diagnosis of DEB subtype, in improving genetic counseling, and in providing further insight into the pathophysiology of this mechanobullous disease.

Asunto(s)

Colágeno/genética , Epidermólisis Ampollosa Distrófica/genética , Dermatosis del Pie/genética , Dermatosis de la Mano/genética , Población Blanca/genética , Adolescente , Adulto , Preescolar , Cartilla de ADN , Epidermólisis Ampollosa Distrófica/patología , Femenino , Dermatosis del Pie/patología , Dermatosis de la Mano/patología , Humanos , Rodilla/patología , Masculino , México , Mutación , Reacción en Cadena de la Polimerasa

RESUMEN

Se presentan tres casos de acropigmentación reticulada de Kitamura y se especifican sus caracteres clínicos e histopatológicos, marcando similitudes y diferencias con comunicaciones anteriores de otros autores. Se incluye el diagnóstico diferencial con otras afecciones hiperpigmentadas, de patrón reticulada acral y general (AU)

Asunto(s)

Niño , Humanos , Masculino , Femenino , Adolescente , Adulto , Trastornos de la Pigmentación/diagnóstico , Diagnóstico Diferencial , Dermatosis de la Mano/patología , Dermatosis del Pie/diagnóstico , Dermatosis de la Mano/genética , Dermatosis del Pie/genética , Trastornos de la Pigmentación/genética , Trastornos de la Pigmentación/patología

RESUMEN

Se presentan tres casos de acropigmentación reticulada de Kitamura y se especifican sus caracteres clínicos e histopatológicos, marcando similitudes y diferencias con comunicaciones anteriores de otros autores. Se incluye el diagnóstico diferencial con otras afecciones hiperpigmentadas, de patrón reticulada acral y general

Asunto(s)

Niño , Humanos , Masculino , Femenino , Adolescente , Adulto , Diagnóstico Diferencial , Dermatosis del Pie/diagnóstico , Dermatosis de la Mano/patología , Trastornos de la Pigmentación/diagnóstico , Dermatosis del Pie/genética , Dermatosis de la Mano/genética , Trastornos de la Pigmentación/genética , Trastornos de la Pigmentación/patología

RESUMEN

Presentamos una familia con el cuadro clínico-histopatológico de acropigmentación reticular de Kitamura,en la cual se observó un modo de herencia autosómica dominante. La fenotipificación HLA no mostró la segregación de ningún haplotipo en particular. Efectuamos una revisión bibliografíca existente

Asunto(s)

Humanos , Antígenos HLA/aislamiento & purificación , Diagnóstico Diferencial , Dermatosis de la Mano/genética

RESUMEN

Presentamos una familia con el cuadro clínico-histopatológico de acropigmentación reticular de Kitamura,en la cual se observó un modo de herencia autosómica dominante. La fenotipificación HLA no mostró la segregación de ningún haplotipo en particular. Efectuamos una revisión bibliografíca existente(AU)

Asunto(s)

Humanos , Dermatosis de la Mano/genética , Diagnóstico Diferencial , Antígenos HLA/aislamiento & purificación

RESUMEN

We observed a newborn infant of a previously reported kindred with absent dermal ridge pattern, syndactyly, and facial milia. The infant's features were consistent with three other kindreds, suggesting that this entity is a single disorder with variable expression. Furthermore, this entity should be considered in the differential diagnosis of excessive congenital facial milia and erosions.

Asunto(s)

Quiste Epidérmico/congénito , Quiste Epidérmico/genética , Dermatosis Facial/congénito , Dermatosis Facial/genética , Anomalías Cutáneas , Sindactilia/genética , Adulto , Femenino , Dermatosis del Pie/congénito , Dermatosis del Pie/genética , Dermatosis de la Mano/congénito , Dermatosis de la Mano/genética , Humanos , Recién Nacido , Masculino , Enfermedades de la Uña/congénito , Enfermedades de la Uña/genética , Linaje

Asunto(s)

Eritema/genética , Femenino , Dermatosis del Pie/genética , Dermatosis de la Mano/genética , Humanos , Persona de Mediana Edad