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British Journal of Dermatology

F Adan, M B Crijns, W S E Zandstra, M W Bekkenk, F E Bleeker, E Dekker, M E van Leerdam
Lynch syndrome (LS) is an autosomal-dominant disorder characterized by a predisposition to colorectal cancer and extracolonic malignancies. LS is caused by a germline mutation in one of the four DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6 and PMS2) or loss of expression of MSH2 due to deletion in the EPCAM gene. Muir-Torre syndrome (MTS) is considered a variant of LS, in which patients present with sebaceous neoplasms and/or keratoacanthomas. A few studies and case reports suggest a relation between LS and other benign and (pre)-malignant skin tumours...
March 15, 2018: British Journal of Dermatology
N Lacey, A Russell-Hallinan, C C Zouboulis, F C Powell
Rosacea is a common facial skin disorder affecting middle-aged adults. Its aetiology is unknown and pathogenesis uncertain. Activation of the host innate immune response has been identified as important. The Demodex mite population in the skin of these patients is significantly higher than in subjects with normal skin suggesting they may be of etiological importance in this disorder. Little is known of the role of these mites in human skin and their potential to interact with the host immune system has not been elucidated...
March 12, 2018: British Journal of Dermatology
M Schaller, K Pietschke
Approximately 75% of cutaneous rosacea patients also suffer from an ocular involvement with blepharitis and meibomian gland dysfunction often presented as chalazia. Clinical symptoms are foreign body sensation, light sensitivity, burning and tearing. This article is protected by copyright. All rights reserved.
March 12, 2018: British Journal of Dermatology
P R Hansen, J L Isaksen, G B Jemec, J K Kanters, C Ellervik
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...
March 11, 2018: British Journal of Dermatology
L Spielmann, L Arnaud, F Severac, L Messer, A Mahé, A Meyer, B Lannes, D Lipsker, J Sibilia
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 30th 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...
March 11, 2018: British Journal of Dermatology
L Dequidt, M-L Jullie, J Seneschal, T Werfel, A Taieb
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...
March 11, 2018: British Journal of Dermatology
B Hernández-Breijo, T Jurado, E Rodríguez-Martín, A Martínez-Feito, C Plasencia-Rodríguez, A Balsa, M L Alonso-Pacheco, L M Villar, P Herranz-Pinto, D Pascual-Salcedo
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...
March 11, 2018: British Journal of Dermatology
N Intarak, T Theerapanon, A Srijunbarl, K Suphapeetiporn, T Porntaveetus, V Shotelersuk
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)...
March 11, 2018: British Journal of Dermatology
L Schmitz, T Gambichler, C Kost, G Gupta, M Stücker, E Stockfleth, T Dirschka
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...
March 11, 2018: British Journal of Dermatology
S Rolls, S Rajan, A Shah, J F Bourke, M M Chowdhury, S A Ghaffar, C Green, G A Johnston, D I Orton, C Reckling, N M Stone, S M Wilkinson, D A Buckley
No abstract text is available yet for this article.
March 10, 2018: British Journal of Dermatology
K A Engebretsen, S Kezic, C Riethmüller, J Franz, I Jakasa, A Hedengran, A Linneberg, J D Johansen, J P Thyssen
BACKGROUND: During the winter in northern countries, the risk of dermatitis is increased due to low temperature and humidity. Dermatitis is particularly common on weather-exposed skin such as the cheeks and hands. Recently, increased numbers of unidentified nanosized protrusions on the corneocyte surface were associated with dermatitis and deficiency of natural moisturizing factor (NMF). OBJECTIVES: To investigate the effect of season on NMF levels and corneocyte surface texture in cheek and hand skin of healthy adults...
March 7, 2018: British Journal of Dermatology
A F Pedrosa, C Lisboa, I Faria-Ramos, R M Silva, I M Miranda, A G Rodrigues
Malassezia are involved in the pathogenesis of different skin diseases including pityriasis versicolor (PV) and seborrheic dermatitis (SD), but these yeasts are also important inhabitants of the skin microbiome. Culture is not performed routinely, although it may be of value in doubtful cases to support the diagnosis; culture is crucial for identification tools such as matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS). Culture is also critical to assess the number of organisms and viability and, eventually, to perform antifungal susceptibility tests...
March 5, 2018: British Journal of Dermatology
H J Kim, D Bonciani, M Zeidi, S M Pena, J Tiao, S Sahu, V P Werth
BACKGROUND: Interleukin-31 (IL-31) is implicated in pruritus associated with pruritic skin diseases like atopic dermatitis. Although pruritus is a prominent feature in dermatomyositis (DM), few studies have evaluated the pathogenesis of DM-associated itch. OBJECTIVES: Our goals were to establish the prevalence of itch in DM, and to investigate the role of IL-31 in DM-related itch. METHODS: Pruritus and disease activity of DM were evaluated by a visual analog scale (VAS) and the Cutaneous Disease and Activity Severity Index (CDASI), respectively...
March 1, 2018: British Journal of Dermatology
L Liu, X Zuo, Z Zhu, L Wen, C Yang, C Zhu, L Tang, Y Cheng, M Chen, F Zhou, X Zheng, W Wang, X Yin, H Tang, L Sun, S Yang, Y Sheng, Y Cui, X Zhang
Systemic lupus erythematosus (SLE) is a common prototypic autoimmune disease with substantial genetic predispositions. It is more prevalent in Asians than in Caucasians. Genome wide association studies (GWAS) have discovered more than 80 genetic loci for the risk of SLE1 , which improve the understanding of SLE etiology and provide potential therapeutic targets. However, each GWAS finding only confers a relatively small effect, and they in total cannot fully explain SLE heritability, suggesting more genetic variants are yet to be discovered...
March 1, 2018: British Journal of Dermatology
R C Melchers, R Willemze, M W Bekkenk, E R M de Haas, B Horvath, M M van Rossum, C J G Sanders, J C J M Veraart, M H Vermeer, K D Quint
BACKGROUND: There is no consensus on the treatment of multifocal primary cutaneous anaplastic large cell lymphoma (C-ALCL). Radiotherapy (RT) and methotrexate (MTX) are the current treatment options, but their efficacy is unknown. Recently, targeted therapies showed promising results in C-ALCL, and may therefore be an attractive first choice of treatment. OBJECTIVES: To assess the efficacy of conventional treatment strategies for patients with multifocal C-ALCL, and to define which patients may require novel targeted therapies...
March 1, 2018: British Journal of Dermatology
A Marchand, A Tallet, C Collin, B Cormier, Y Venel, E Miquelestorena-Standley, L Machet
Treatment for patients with V600 mutation of the B-Raf protooncogene BRAF (BRAF-V600) and metastatic stage IV or unresectable stage III melanoma has greatly advanced with the introduction of selective BRAF inhibitors (BRAFi), such as vemurafenib and dabrafenib, combined with mitogen-activated protein kinase kinase inhibitors (MEKi), such as cobimetinib and trametinib, as first-line therapy [1,2]. Two mutations, V600E and V600K, are routinely searched in patients with stage IV and unresectable stage III cancer...
March 1, 2018: British Journal of Dermatology
D Vodo, O Sarig, D Jeddah, N Malchin, M Eskin-Schwarz, J Mohamad, T Rabinowitz, I Goldberg, N Shomron, Z Khamaysi, R Bergman, E Sprecher
Palmoplantar keratodermas (PPKs, OMIM #144200) refers to a large phenotypically and genetically heterogeneous group of keratinization disorders characterized by marked hyperkeratosis on the surface of palms and soles. Punctate PPK (PPKP) features multiple hyperkeratotic papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. The disease is clinically classified into three autosomal dominant subtypes: PPKP1 (OMIM #148600, 614936) characterized by multiple tiny punctate keratoses and caused by mutations in the AAGAB or COL14A1 genes; PPKP2 (OMIM #175860) which features tiny hyperkeratotic spinous papules and PPKP3 or acrokeratoelastoidosis (AKE, OMIM # 101850) which manifests with small hyperkeratotic papules located over the peripheral margins of the palms and soles and is typically associated with degeneration of elastic fibers on histology...
March 1, 2018: British Journal of Dermatology
K A Papp, K B Gordon, R G Langley, M G Lebwohl, A B Gottlieb, S Rastogi, R Pillai, R J Israel
BACKGROUND: Biologics used increasingly used for treating moderate-to-severe psoriasis. Efficacy may differ in patients with previous biologics exposure. OBJECTIVE: To investigate the impact of previous biologic exposure on efficacy and safety of brodalumab and ustekinumab in moderate-to-severe plaque psoriasis. METHODS: Two placebo- and ustekinumab-controlled phase 3 clinical trials. Initial 12-week induction phase where patients were treated with brodalumab (210mg Q2W or 140mg Q2W), ustekinumab or placebo...
February 28, 2018: British Journal of Dermatology
Y Kim, J Y Cho, S W Oh, M Kang, S E Lee, E Jung, Y S Park, J Lee
BACKGROUND: Adiponectin is an adipocyte-derived cytokine which circulates as a full-length protein and a fragment containing the globular domain of adiponectin (gAd). A recent study has reported the anti-melanogenic effects of full-length adiponectin. OBJECTIVES: To examine the involvement of gAd in melanogenesis and its action mechanisms. METHODS: The effects of gAd on melanogenesis and its mechanism of action were investigated in human epidermal melanocytes and reconstructed epidermis, and they included the levels of melanin content, cellular tyrosinase activity, cAMP production and protein kinase A (PKA) activity, expression and phosphorylation of signaling molecules...
February 27, 2018: British Journal of Dermatology
K A Engebretsen, S Kezic, I Jakasa, A Hedengran, A Linneberg, L Skov, J D Johansen, J P Thyssen
BACKGROUND: Epidermal deficiency of filaggrin, and the derived natural moisturizing factors (NMF), is associated with increased risk of atopic dermatitis (AD). While filaggrin gene mutations cause filaggrin deficiency, there is limited insight in causative environmental factors. OBJECTIVE: To explore the effect of selected exogenous skin stressors on NMF and skin cytokines levels in healthy adult epidermis. MATERIAL AND METHODS: 40 healthy volunteers (18-49 years) were exposed to hard, soft, and chlorinated water, 0...
February 27, 2018: British Journal of Dermatology
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