Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia

Abstract

Ectodermal dysplasia (ED) is a heterogeneous group of disorders caused by mutations in at least thirteen genes. Recently, a study reported Palestinian patients with ED from consanguineous families with a homozygous mutation in KREMEN1 (Kringle-containing transmembrane protein 1) and proposed it to be a causative gene for the autosomal recessive ED 13, hair/tooth type (ECTD13; OMIM #617392). A Thai family, parents and two children affected with ED, was recruited. The study was exempted from review by the Institutional Review Board, Faculty of Medicine, Chulalongkorn University (IRB584/60). Written informed consents of each participant were obtained according to the Declaration of Helsinki. Mutation analyses were performed as described previously.

This article is protected by copyright. All rights reserved.

http://ift.tt/2FqWnAB

Pulmonary function in subjects with psoriasis: A cross-sectional population study

Abstract

Psoriasis is a prevalent chronic inflammatory disease associated with comorbidities, e.g. cardiometabolic diseases, inflammatory bowel disease, and depression that may share an inflammatory origin. Smoking increases the risk of psoriasis and the disease has also been linked to chronic obstructive pulmonary disease (COPD) and asthma, with evidence of shared inflammatory cytokine-mediated mechanisms. Moreover, subjects with psoriasis display increased risk of infections, especially respiratory infections including pneumonia. However, only a small single-center study of pulmonary function in subjects with psoriasis is available.

This article is protected by copyright. All rights reserved.

http://ift.tt/2tAG3rz

Recurrent erysipelas of the face with hyperimmune reaction to group C streptococcus

Abstract

We present the case of a 73-year-old-woman, admitted in 2014 for n erysipelas of the face (figure 1a) beginning 3 days before, with red oedematous papules of the left temple, hyperthermia and chills the day after. Clinical examination did not find lymphadenopathy or skin lesion especially at her left ear. Blood samples showed a raised C reactive protein (CRP) to 120 mg/L without leukocytosis. Antinuclear antibodies were negative. Viral serologies (HIV, hepatitis C and B, EBV, parvovirus B19, VZV, mumps), viral PCR assay (EBV, parvovirus B19, CMV, VZV) and bacterial blood cultures were all negative Histopathological findings revealed a reactive infiltrate without vasculitis and necrosis.

This article is protected by copyright. All rights reserved.

http://ift.tt/2FsSzPB

Differential blood cellular profile in patients with moderate to severe psoriasis treated with classical systemic therapies: A step forward in personalised medicine

Abstract

patients with moderate to severe psoriasis are difficult to treat with topical therapy only and they usually require additional systemic therapy. Despite this, a significant percentage of patients on these therapies shows an inadequate response to these drugs. Treatment decisions are often difficult as they usually rely on subjective terms. Therefore, finding indicators that predict efectiveness or failure to classical systemic therapy is an urgent need. The objective of this study was to analyse whether the phenotype of peripheral blood mononuclear cells (PBMC) would be different in responder or non-responder patients to classical systemic therapy, and thus could be used as a efectiveness predictor of this therapy effectiveness. These predictor markers could help physicians to choose the best individualised treatment for psoriasis patients.

This article is protected by copyright. All rights reserved.

http://ift.tt/2tAxIEb

Cutaneous squamous cell carcinomas are associated with basal proliferating actinic keratoses

Abstract

Background

In addition to the extent of atypical keratinocytes throughout the epidermis, actinic keratoses (AKs) are histologically characterized by downward directed basal layer expansion. It is not known if this growth pattern correlates with the risk of developing invasive squamous cell carcinoma (iSCC).

Objective

To characterize the prevalence of downward directed basal layer expansion of AKs adjacent to iSCC.

Methods

The epidermis overlying and adjacent to iSCCs was assessed histologically. We determined the histological grade (AKI-III), basal growth pattern (PROI-III) and accompanying parameters such as adnexal involvement.

Results

Of 307 lesions, 52.4% of AKs were histologically classified as AKI, 38.1% as AKII, and 6.8% as AKIII (chi-squared; P<0.0001). 2.6% of adjacent epidermis did not show any atypical keratinocytes. The epidermis adjacent to iSCCs was classified as having a PROI basal growth pattern in 25.7%, PROII in 31.9%, and PROIII in 39.4% cases. 2.9% of AKs showed no basal growth (chi-squared; P<0.0001).118 (48.8%) AKs showed extension into adnexal structures. These AKs were graded as PROI in 18.6%, PROII in 30.5%, and PROIII in 50.8%. The epidermis above iSCCs could only be assessed for upwards directed growth and showed no significant differences in the three AK grades (P=0.4211).

Conclusions

Basal proliferative AKs as well as atypical keratinocytes restricted to the lower third of the epidermis are most commonly seen adjacent to iSCC with less evidence for full thickness epidermal dysplasia. Our study supports the important role of dysplastic keratinocytes in the epidermal basal layer and their potential association with iSCC.

This article is protected by copyright. All rights reserved.

http://ift.tt/2GjoXBq

Population-based prevalence of Eosinophilic (Shulman's) Fasciitis: a capture-recapture study

Abstract

Our knowledge of Eosinophilic fasciitis (EF), also known as Shulman's syndrome, is limited, and its prevalence has not been estimated so far. We conducted a regional survey which aimed at estimating the prevalence of EF in Alsace, a Region in the North-East of France. We retrospectively collected EF cases from the first of January 1983 to the 30^th of March 2015 among Alsace residents aged >18 years, then performed a capture-recapture analysis with the prevalent cases in 2015.

This article is protected by copyright. All rights reserved.

http://ift.tt/2tAxGw3

Effects of personal air pollution exposure on asthma symptoms, lung function and airway inflammation

Abstract

Background

There is evidence that air pollution increases the risk of asthma hospitalisations and healthcare utilisation, but the effects on day-to-day asthma control are not fully understood.

Objective

We undertook a prospective single-centre panel study to test the hypothesis that personal air pollution exposure is associated with asthma symptoms, lung function and airway inflammation.

Methods

Thirty-two patients with a clinical diagnosis of asthma were provided with a personal air pollution monitor (Cairclip NO₂/O₃) which was kept on or around their person throughout the 12-week follow-up period. Ambient levels of NO₂ and particulate matter were modelled based upon satellite imaging data. Directly measured ozone, NO₂ and particulate matter levels were obtained from a monitoring station in central Leicester. Participants made daily electronic records of asthma symptoms, peak expiratory flow, and exhaled nitric oxide. Spirometry and asthma symptom questionnaires were completed at fortnightly study visits. Data were analysed using linear mixed effects models and cross-correlation.

Results

Cairclip exposure data were of good quality with clear evidence of diurnal variability and a missing data rate of approximately 20%. We were unable to detect consistent relationships between personal air pollution exposure and clinical outcomes in the group as a whole. In an exploratory subgroup analysis, total oxidant exposure was associated with increased daytime symptoms in women but not men.

Conclusions and clinical relevance

We did not find compelling evidence that air pollution exposure impacts on day-to-day clinical control in an unselected asthma population, but further studies are required in larger populations with higher exposure levels. Women may be more susceptible than men to the effects of air pollution, an observation which requires confirmation in future studies.

This article is protected by copyright. All rights reserved.

http://ift.tt/2Gdr9tW