Search

Malignancy-associated dermatomyositis (MADM) is a well-accepted disorder.[1] However, as only a subset of patients with dermatomyositis (DM) will develop malignancy, the risk/benefit ratio of malignancy screening for all patients with DM is controversial. Of these, there were 63 patients with MADM who had adequately matched control patients within our cohort who did not develop malignancy within 3 years of DM diagnosis (Table). [Extracted from the article]

Background Recent work using genome-wide association studies ( GWAS) in Chinese Han and white populations have discovered several novel psoriasis susceptibility genes. Aim To examine whether the risk loci for psoriasis identified in previous GWAS in a white population are also associated with psoriasis in a Chinese Uygur population in Xinjiang. Methods Genotyping analysis of eight single-nucleotide polymorphisms ( SNPs) associated with psoriasis was performed for 539 patients with psoriasis and 749 controls, all of Chinese Uygur descent, using a commercial assay. Results Two SNPs had an association with psoriasis in this Chinese Uygur population: SNP rs495337 in the gene encoding for zinc finger protein 313 ( P < 0.001; OR = 0.80) and SNP rs20541 of the gene encoding for interleukin-13 ( P < 0.001; OR = 0.82). In subgroup analyses, the two SNPs were significantly associated ( P < 0.05) with type I psoriasis, Rs495337 showed statistically difference between positive family history of psoriasis patients and controls whereas rs20541 might preferentially associated with negative family history psoriasis patients. Interestingly, using multifactor dimensionality reduction, a significant two-locus interaction was seen between rs495337 and rs20541, with a crossvalidation consistency of 4/5 and average balanced prediction (accuracy 55.5%, P < 0.001). Conclusions ZNF313 and IL-13 are associated with risk for psoriasis in a Chinese Uygur population, and there is an effect of interaction between the two genes on this risk. [ABSTRACT FROM AUTHOR]

The article discusses a study on the genetic analysis of two Chinese families with inherited autosomal progressive symmetrical erythrokeratoderma (PSEK). The researchers assessed the oricrin, connexin 30.3 and connexin 31 genes of the two families and revealed no mutations of these genes. It suggests that more than one genetic locus is responsible for the development of PSEK.

The article presents a study of an 18-year-old proband who was diagnosed with autosomal recessive woolly hair (ARWH) with hypotrichosis (HT) with a novel deletion mutation of LPAR6 gene. It indicates that LPAR6 gene was responsible for ARWH/HT in a consanguineous Chinese family. It emphasizes the important role of the gene in the development of hair follicles and hair growth.

Hypohidrotic ectodermal dysplasia (HED) is a rare skin disease characterized by hypotrichosis, hypodontia and hypohidrosis. HED can be autosomal dominant, autosomal recessive or X-linked. However, X-linked HED (XLHED; OMIM 305100) is the most common form. Mutations within the EDA1 gene, which encodes ectodysplasin-A, are responsible for XLHED. In this study, we investigated the EDA1 gene in a Chinese Han family with XLHED, and found a novel 1-bp deletion mutation (c.952delG) in exon 9 of the EDA1 gene, which results in a frameshift and premature termination codon. This result suggests that the c.952delG mutation of the EDA1 gene is likely to be the disease-causing mutation for XLHED in this family. Our study adds new data to the worldwide knowledge of the molecular basis of XLHED. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the article "A diagnostic challenge: acute generalized exanthematous pustulosis or pustular psoriasis due to terbinafine," by L. Duckworth, M. B. Maheshwari, and M. A. Thomson in the 2012 issue.