Sanquan Zhang

S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis

highlights MEC as a common finding in DA. Although mechanisms underlying formation of MEC in non-viral conditions are poorly understood, cell-cell fusion and disruption of cytokinesis are possible explanations. While viral infections must be excluded, our experience suggests the presence of MEC with greater than five nuclei, when accompanied by epidermal necrosis and in the appropriate clinical setting, may provide a clue to the diagnosis of DA in the paediatric population. J. Guitart had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Study concept and design: J. Guitart. Acquisition of data: S. Amin, O. Y elamos, M. Martinez-Escala, L. Shen., J. Guitart, M. Rosenbaum, B. Kenner-Bell, A. Mancini, A. Paller. Drafting of the manuscript: S. Amin, O. Y elamos, M. Martinez-Escala, J. Guitart. Critical revision of the manuscript for importance intellectual content: J. Guitart, B. Kenner-Bell, A. Mancini, A. Paller, M. Rosenbaum, P. Gerami. Administrative, technical or material support: J. Guitart, S. Amin, O. Y elamos, M. Martinez-Escala. Study supervision: J. Guitart.

Lack of association between cytotoxic T-lymphocyte antigen-4 + 49A/G polymorphism and psoriasis and vitiligo: A meta-analysis of case–control studies

BACKGROUNDnCytotoxic T-lymphocyte antigen-4 (CTLA-4) is a critical negative regulator of T-cell activation and proliferation. Several studies have assessed the association between CTLA-4+49A/G polymorphism and psoriasis and vitiligo, but the results are inconsistent.nnnAIMSnThis study was conducted to examine the association between CTLA-4+49A/G polymorphism and psoriasis and vitiligo susceptibility.nnnMETHODSnThe PubMed, Embase, and China National Knowledge Infrastructure (CNKI) databases were searched according to predefined criteria for all relevant studies published prior to July 3, 2014. Odds ratios (ORs) with 95% confidence intervals (CIs), and heterogeneity and publication bias tests were performed to estimate the strength of the association.nnnRESULTSnFourteen studies comprising six on psoriasis (700 cases, 781 controls) and eight on vitiligo (1514 cases, 2049 controls) were included. Overall, no significant association was detected between CTLA-4+49A/G polymorphism and psoriasis. There was still no significant relationship when the studies were limited to ethnicity (Asian and Caucasian), HWE or heterogeneity, except the limitation to heterogeneity in the dominant (OR=0.69, 95% CI=0.51-0.93, I(2)=0.0%) and additive (OR=0.69, 95% CI=0.48-0.98, I(2)=0.0%) models, and the limitation to both heterogeneity and HWE in the dominant model (OR=0.68, 95% CI=0.48-0.98, I(2)=0.0%). Both overall and subgroup analyses based on ethnicity, genotype frequencies, and heterogeneity also failed to demonstrate an association between CTLA-4+49A/G polymorphism and vitiligo.nnnCONCLUSIONnCTLA-4+49A/G polymorphism may not contribute to psoriasis and vitiligo susceptibility, but further well-designed studies with large sample size are warranted to confirm this conclusion.

Increased expression of Th17 cytokines in patients with psoriasis

Psoriasis is a chronic inflammatory skin disease that is thought to be mediated by a new distinct type of T helper cell, called Th17 cells that play an essential pathogenic role in psoriasis. In this study, we measured serum levels of IL-17A and IL-23P19 in 43 psoriatic patients and 30 healthy control using nested real time polymerase reaction chain (RT-PCR) and enzyme-linked immunosorbent assay (ELISA) method, correlating their levels to disease severity, which was calculated by psoriasis area severity index (PASI) score. Serum levels of the studied cytokines were significantly elevated in comparison with normal control serum levels according to determination. Also, serum levels of both IL-17A and IL23P19 were significantly correlated with PASI score. Our result indicates that Th17 cells might play a key role in the immunopathogenesis of psoriasis and as markers of disease activity.

Exome sequencing identifies a TCF4 mutation in a Chinese pedigree with symmetrical acral keratoderma

Symmetrical acral keratoderma (SAK) is a rare skin disorder and its pathogenesis and inheritability are unknown.

Circular RNA expression profile analysis of severe acne by RNA-seq and bioinformatics.

Acne is a common chronic skin disease with a multifactorial aetiology and pathogenesis. Recently, circular RNAs (circRNAs) have been identified as a key factor in regulating gene expression through circRNA–miRNA–mRNA networks in many biological processes and human diseases. However, the circRNAs expression in patients with acne is still unknown.

Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis.

Autosomal recessive congenital ichthyosis (ARCI) is a group of genetically heterogeneous diseases. Mutations in transglutaminase (TGase) 1 gene (TGM1, OMIM 190195) have been implicated in ARCI. However, little is known about TGM1 mutations in the Chinese population, and no functional studies have investigated the biological effect of mutant TGM1 on human epidermal keratinocytes (HaCaT) cells.

A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7.

Nagashima-type palmoplantar keratosis (PPK) is a form of diffuse palmoplantar keratosis (PPK), but is a distinct clinical entity inherited in an autosomal recessive fashion. We report a patient with NPPK with underlying SERPINB7 mutation, which was found to be a recurrent variant (c.796C>T). A 45-year-old Chinese man presented with bilateral reddish, palmoplantar hyperkeratotic lesions on his hands and feet. The patient was otherwise healthy, and he had no family history of similar disorders. Physical examination showed well-demarcated erythema and hyperkeratosis symmetrically involving the entire palmar and plantar surfaces (Fig. 1a,b), with spread to the dorsa of the hands and feet (Fig. 1c,d), and to the wrists, ankles and Achilles tendon area (Fig. 1e). A biopsy specimen from the erythematous dorsum of the wrist showed orthokeratotic hyperkeratosis with acanthosis, hypergranulosis, and mild perivascular inflammatory infiltration. We carried out a genetic study of the patient and three unaffected individuals (Fig. 1f). The study was approved by the institutional review board of the Guangzhou Institute of Dermatology, and conducted following the standards of the Helsinki Declaration. Informed consent was obtained from all participants. Sequence analysis of SERPINB7 from the patient revealed a homozygous nonsense mutation c.796C>T (p.Arg266Ter) (Fig. 2a), which was not found in the three unaffected relatives or in 50 control alleles (Fig. 2b). Anti-SERPINB7 staining was seen in the stratum corneum (SC) and the granular, spinous and

Acitretin systemic and retinoic acid 0.1% cream supression of basal cell carcinoma

Retinoids have been used for years as monotherapy and/or in combination for treatment and suppression of cutaneous malignancies in patients with basal cell nevus syndrome, xeroderma pigmentosum, or cutaneous T-cell lymphoma (CTCL) basal cell carcinoma (BCC). We report 4 cases with BCC confirmed by histopathology who were treated by short-term systemic acitretin combined with retinoic acid 0.1% cream. The 4 cases with BCC showed good response to the treatment without severe adverse effects during treatment and follow-up. The finding suggests that acitretin may be an appropriate treatment option for elderly patients who require less invasive treatment for BCC.

IL-22 Down-regulates Cx43 Expression and Decreases Gap Junctional Intercellular Communication by Activating the JNK Pathway in Psoriasis

The roles of IL-22 in the pathomechanisms of psoriasis have been well demonstrated. Gap junctional intercellular communication (GJIC) is widely known for its involvement in multiple biological and pathological processes such as growth-related events, cell differentiation, and inflammation. Here, we show that IL-22 significantly decreased GJIC and down-regulated Cx43 expression in HaCaT cells. Cx43 overexpression markedly inhibited the proliferation of and increased GJIC in HaCaT cells, but the silencing of Cx43 exerted the opposite effects. Additionally, Cx43 overexpression effectively rescued the IL-22-induced decrease in GJIC in HaCaT cells. The IL-22-induced down-regulation of Cx43 expression and decrease in GJIC can be significantly blocked by the JNK inhibitor SP600125 and by the overexpression of IL-22RA2 (which specifically binds to IL-22 and inhibits its activity), but not by the NF-κB inhibitor BAY11-7082, in HaCaT cells. Furthermore, the IL-22-induced down-regulation of Cx43 expression mediated by the JNK signaling pathway was confirmed in a mouse model of IL-22-induced psoriasis-like dermatitis. Similarly, Cx43 expression was significantly lower in the lesional skin than in the nonlesional skin of patients with psoriasis. These results suggest that IL-22 decreases GJIC by activating the JNK signaling pathway, which down-regulates Cx43 expression; this process is a possible pathomechanism of keratinocyte hyperproliferation in psoriasis.

A novel non-frameshift deletion in MVK gene responsible for disseminated superficial actinic porokeratosis in one Chinese family

Disseminated superficial actinic porokeratosis (DSAP), a genodermatosis transmitted as an autosomal dominant trait featuring disorder of keratinization, is characterized clinically by annular plaques with an atropic center and hyperkeratotic edges.1-4 Recently, Zhang etxa0al. 2 reported MVK mutations in 33% familiar and 16% sporadic patients with DSAP by exome sequencing. Here, we report a single novel mutation of MVK, p.Cys161_Arg176del, in a Chinese family suffering from DSAP. n nThis article is protected by copyright. All rights reserved.