RESUMO
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.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Psoríase/genética , Interleucinas/genética , Mutação , Fenótipo , Psoríase/patologia , China , Análise de Sequência de DNA , Estatísticas não Paramétricas , Povo Asiático/genética , Análise do Polimorfismo de Comprimento de Fragmentos Amplificados , Estudos de Associação Genética , Dermatoses do Pé/genética , Dermatoses do Pé/patologia , Dermatoses da Mão/genética , Dermatoses da Mão/patologia , HeterozigotoRESUMO
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
Assuntos
Criança , Humanos , Masculino , Feminino , Adolescente , Adulto , Diagnóstico Diferencial , Dermatoses do Pé/diagnóstico , Dermatoses da Mão/patologia , Transtornos da Pigmentação/diagnóstico , Dermatoses do Pé/genética , Dermatoses da Mão/genética , Transtornos da Pigmentação/genética , Transtornos da Pigmentação/patologiaRESUMO
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