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British Journal of Dermatology

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https://www.readbyqxmd.com/read/30417923/dermatological-manifestations-in-noonan-syndrome-a-prospective-multicentric-study-of-129-mutation-positive-patients
#1
D Bessis, J Miquel, E Bourrat, C Chiaverini, F Morice-Picard, C Abadie, F Manna, C Baumann, M Best, P Blanchet, A-C Bursztejn, Y Capri, C Coubes, F Giuliano, S Guillaumont, S Hadj-Rabia, M-L Jacquemont, C Jeandel, D Lacombe, S Mallet, J Mazereeuw-Hautier, N Molinari, V Pallure, C Pernet, N Philip, L Pinson, P Sarda, S Sigaudy, Y Vial, M Willems, D Geneviève, A Verloes, H Cavé
BACKGROUND: Data on dermatological manifestations of Noonan syndrome (NS) remain heterogeneous and based on little dermatological expertise. OBJECTIVES: To describe the dermatological manifestations of NS, compare them with the literature findings, and test for dermatological phenotype-genotype correlations with or without the presence of PTPN11 mutations. METHODS: We performed a large, 4-year, prospective, multicentric, collaborative dermatological and genetic study...
November 12, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30417328/we-need-to-talk-about-notch-notch-dysregulation-as-an-epiphenomenon-in-inflammatory-skin-disease
#2
LETTER
J W Frew
The Notch signaling pathway is a highly evolutionarily conserved signaling pathway comprised of four type 1 transmembrane receptors. Canonical Notch signaling is stimulated by Jagged and Delta ligands resulting in translocation of the Notch Intracellular domain (ICD) to the nucleus resulting in activation of transcription factor CSL. Increased Notch activity is associated with epidermal keratinocyte maturation, proliferation and innate immune activation through maturation of dendritic cells, T cells and macrophages...
November 11, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30414274/psoriasis-in-a-cohort-of-patients-with-common-variable-immunodeficiency
#3
LETTER
M Megna, A Pecoraro, N Balato, A Villani, L Crescenzi, A Balato, G Spadaro
Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency in adults. CVID is characterized by reduced serum levels of IgG, IgA, and/or IgM, recurrent bacterial infections, autoimmune and inflammatory diseases and malignancies. According to literature, autoimmune diseases occur in 20-30% of CVID patients. Dermatological involvement has occasionally been reported in CVID and includes alopecia totalis, lichen planus, and vitiligo. Data regarding the frequency and features of psoriasis in CVID are scant...
November 10, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30414269/interventions-for-infantile-haemangiomas-of-the-skin-abridged-cochrane-systematic-review-including-grade-assessments
#4
REVIEW
M Novoa, E Baselga, S Beltran, L Giraldo, A Shahbaz, H Pardo-Hernandez, I Arevalo-Rodriguez
Infantile haemangiomas (IH) are soft swellings of the skin that occur in 3-10% of infants. When haemangiomas occur in high-risk areas or when complications develop, active intervention is necessary. This is an update of a Cochrane Review assessing the interventions for the management of IH in children. We searched for randomized controlled trials in CENTRAL, MEDLINE, Embase, LILACS, AMED, PsycINFO, CINAHL and six trials registers to February 2017. We included 28 trials (1728 participants) assessing 12 interventions...
November 10, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30411319/acrodermatitis-continua-of-hallopeau-with-dense-infiltration-of-igg-4-positive-cells-in-the-lesional-dermis
#5
LETTER
M Ogawa-Momohara, Y Muro, M Nakaguro, T Takeichi, M Kono, M Akiyama
Acrodermatitis continua of Hallopeau (ACH) is a rare acropustular subtype of psoriasis. The characteristic feature of ACH is chronic, painful and destructive disease affecting the hands and feet, especially the fingertips and toes. The pathogenic mechanisms of ACH have not been fully elucidated. We report a case of ACH whose skin lesions showed dense infiltration of IgG4 -positive cells in the dermis. This article is protected by copyright. All rights reserved.
November 8, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30411317/multiple-cutaneous-reticulohistiocytomas-after-haematopoietic-cell-transplantation-contribution-of-donor-and-host-derived-cells
#6
LETTER
H Kosumi, K Natsuga, M Watanabe, K Okada, H Shimizu
Reticulohistiocytoma or reticulohistiocytosis of the skin is a histiocytic disorder which is histologically characterized by the presence of numerous reticulohistiocytes: large histiocytes with an abundant eosinophilic cytoplasm. The aetiology of reticulohistiocytosis and the origin of reticulohistiocytes are unknown. Multiple cutaneous reticulohistiocytomas (MCR) is a reticulohistiocytosis of the skin that is characterized by generalized eruptions and an absence of articular symptoms or internal malignancies...
November 8, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30396230/psychological-impact-of-psoriasis-on-vlamidir-nabokov
#7
LETTER
L Rousset, B Halioua
Vladimir Nabokov, one of the greatest writers of the twentieth century, is best known for having published in 1954 in France his novel Lolita. Many publications report his psoriasis, but none was interested in its psychological repercussions. He and his wife Vera Slonim remained inseparable from 1923 to 1977, when the writer died. In 2017, the Russian letters to Vera from 1923 to 19771 were translated into English by Olga Voronina and Brian Boyd (figure 1). We searched for all the passages in which Vladimir Nabokov refers to his psoriasis...
November 5, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30393981/smartphone-app-review-british-national-formulary-bnf
#8
A Salam, K A Ashack, S Walsh
No abstract text is available yet for this article.
November 4, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30387498/a-novel-vascular-tumor-characterized-by-co-existing-hras-and-gnaq-activating-mutations
#9
LETTER
P Castel, S Bagué, E Granell, R Guerrero Vara, J Baselga, E Baselga
Vascular anomalies comprise a spectrum of lesions including both tumours and malformations with variable clinical presentation and outcomes. While these disorders have been classified by their morphological features, there is increasing evidence that they are caused by germline or somatic gene mutations that may dictate their phenotypes, offering the possibility of precision-based targeted therapeutics. In the case of venous and lymphatic malformations, others and we have recently reported activating TEK and PIK3CA mutations...
November 2, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30387497/variants-of-card14-are-predisposing-factors-for-generalized-pustular-psoriasis-gpp-with-psoriasis-vulgaris-but-not-for-gpp-alone-in-a-chinese-population
#10
LETTER
L Li, J You, X Fu, Z Wang, Y Sun, H Liu, F Zhang
Generalized pustular psoriasis (GPP) is a rare life-threatening inflammatory skin disorder characterized by recurrent episodes of generalized rash and disseminated pustules associated with high-grade fever and systemic involvement. This could present as the only manifestation of disease (GPP alone) or occur with preceding or accompanied by psoriasis vulgaris (GPP with PV). GPP is traditionally classified as the most severe form of psoriasis, although some scholars have proposed that GPP alone can be treated as a distinct etiology because that this condition is strikingly different from PV in terms of its clinical, histological and genetic background...
November 2, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30382586/dermoscopy-of-patch-test-reactions-study-of-applicability-in-differential-diagnosis-between-allergic-and-irritant-reactions
#11
LETTER
M Corazza, G Toni, D Musmeci, V Scuderi, G Amendolagine, A Borghi
Correct interpretation of patch test reactions is of paramount importance for differentiating allergic from irritant contact dermatitis (ICD). Differentiating weak positive and/or doubtful allergic patch test reactions from irritant reactions can be difficult. The aim of the present study was to describe the main dermoscopic features of patch test reactions and to assess the suitability of dermoscopy in differentiating allergic from irritant reactions in clinical setting. In this observational, cross-sectional study, all consecutive adult outpatients patch tested at our Allergy Unit during a 6-month period for suspected allergic contact dermatitis who developed any reaction at patch testing were eligible for inclusion...
November 1, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30382575/loss-of-function-desmoplakin-i-and-ii-mutations-underlie-dominant-arrhythmogenic-cardiomyopathy-with-a-hair-and-skin-phenotype
#12
T Maruthappu, A Posafalvi, S Castelletti, P J Delaney, P Syrris, E A O'Toole, K J Green, P M Elliott, P D Lambiase, A Tinker, W J McKenna, D P Kelsell
AIMS: Arrhythmogenic Cardiomyopathy (AC) is an inherited, frequently under diagnosed disorder, predisposing to sudden cardiac death. Rare, recessive forms of AC can be associated with woolly hair and palmoplantar keratoderma, but most autosomal dominant AC forms have been reported as cardiac specific. Causative mutations frequently occur in desmosomal genes including desmoplakin (DSP) In this study, we have systematically investigated the presence of a skin and hair phenotype in heterozygous desmoplakin (DSP) mutation carriers with AC...
November 1, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30376181/glucose-metabolism-in-patients-with-psoriasis
#13
REVIEW
N U Friis, N Hoffmann, M Gyldenløve, L Skov, T Vilsbøll, F K Knop, H Storgaard
BACKGROUND: Epidemiological studies strongly suggest that psoriasis predisposes to type 2 diabetes (T2D). Several theories have been proposed to explain how these disease entities might be pathophysiologically connected. OBJECTIVES: Our primary objective was to elucidate whether clinical data support the notion of common pathophysiological denominators in patients with psoriasis and T2D, respectively, and, thus, to delineate the association between the two conditions that has arisen on the basis of epidemiological studies...
October 30, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30376179/risk-factors-for-treatment-failure-in-scabies-a-cohort-study
#14
A Aussy, E Houivet, V Hébert, H Colas-Cailleux, N Laaengh, C Richard, M Ouvry, C Boulard, S Léger, N Litrowski, J Benichou, P Joly
BACKGROUND: Treatment failure, which occurs in about one-third of cases, is considered as a major factor in the increasing incidence of scabies in developed countries. OBJECTIVE: To identify predictors of treatment failure of scabies in ambulatory populations. METHODS: This multicentre study compared the clinical characteristics and treatment modalities between a group of patients with scabies treated successfully and another group who were not cured 3 months after anti-scabies treatment...
October 30, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30367472/sunscreen-and-facial-skin-care-products-in-frontal-fibrosing-alopecia-a-case-control-study
#15
LETTER
W C Cranwell, R Sinclair
Since Kossard first described frontal fibrosing alopecia (FFA) in 1994, the incidence has increased worldwide (1). The pathophysiology remains unclear. Reports of familial FFA suggest a genetic component. Other investigators suggest hormonal, autoimmune and inflammatory processes. The epidemiology of the condition strongly implicates environmental factors. This article is protected by copyright. All rights reserved.
October 27, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30367471/diverse-assays-from-a-single-skin-punch-biopsy-to-assess-topical-drug-intervention
#16
LETTER
M Danilenko, K Hodgson, R Stones, A Husain, M Zangarini, G Veal, N Rajan
SIR-The development of targeted topical treatments for inherited skin tumour syndromes such as naevoid basal cell carcinoma syndrome is desirable because it avoids surgery and is unlikely to cause systemic side effects.1 However in CYLD cutaneous syndrome (CCS; syn. Brooke-Spiegler syndrome), transgenic mouse models fail to recapitulate the human phenotype,2 hampering similar translational advances for these patients. Research methodologies that offer drug penetration data as well as evidence of "on-target" drug effects in human topically treated CCS tumour samples are informative in the absence of relevant mouse models...
October 26, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30367470/photodynamic-therapy-for-actinic-keratosis-of-the-forehead-and-scalp-a-randomized-controlled-phase-ii-clinical-study-evaluating-the-non-inferiority-of-a-new-protocol-involving-irradiation-with-a-light-emitting-fabric-based-device-the-flexitheralight-protocol
#17
C Vicentini, A S Vignion-Dewalle, E Thecua, F Lecomte, C Maire, P Deleporte, H Béhal, D Kerob, A Duhamel, S Mordon, L Mortier
BACKGROUND: Photodynamic therapy is an effective treatment for actinic keratosis, particularly for patients with large areas of field cancerization. Among the approved protocols in Europe, the most widely used requires irradiation with the Aktilite CL 128 lamp. However, pain during irradiation and the suboptimal adaptability of the lamp relative to the treatment area are two limiting factors of this protocol. To overcome these limits, a new protocol (referred to as the Flexitheralight protocol) involving irradiation with a light-emitting, fabric-based device was developed...
October 26, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30367462/effect-of-secukinumab-on-clinical-activity-and-disease-burden-of-nail-psoriasis-32-week-results-from-the-randomized-placebo-controlled-transfigure-trial
#18
K Reich, J Sullivan, P Arenberger, U Mrowietz, S Jazayeri, M Augustin, A Parneix, P Regnault, R You, M Milutinovic
BACKGROUND: Nail psoriasis is associated with functional impairment, pain and reduced quality of life. OBJECTIVE: To demonstrate the superiority of secukinumab vs. placebo in clearing nail psoriasis as assessed by NAil Psoriasis Severity Index (NAPSI) at Week 16 and over time up to Week 132. Presented here is the Week 32 interim analysis. Impact on quality of life was assessed by Nail Assessment in Psoriasis and Psoriatic Arthritis (NAPPA) patient questionnaires...
October 26, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30367460/differential-expression-of-secreted-factors-sostdc1-and-adamts8-cause-pro-fibrotic-changes-in-linear-morphoea-fibroblasts
#19
I I Badshah, S Brown, L Weibel, A Rose, B Way, N Sebire, G Inman, J Harper, V Kinsler, R O'Shaughnessy
BACKGROUND: Linear morphoea (LM) is a rare connective tissue disorder characterised by a line of thickened skin and subcutaneous tissue and can also affect the underlying muscle and bone. Little is known about disease aetiology, with treatment currently limited to immune suppression, and disease recurrence post-treatment is common. OBJECTIVE: To uncover new therapeutic avenues, the cell intrinsic changes in LM fibroblasts compared to site-matched controls was characterised...
October 26, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/30362522/patient-reported-outcome-measures-for-facial-skin-cancer-a-systematic-review-and-evaluation-of-the-quality-of-their-measurement-properties
#20
REVIEW
T D Dobbs, H Samarendra, S Hughes, H A Hutchings, I Whitaker
INTRODUCTION: Skin cancer is the commonest malignancy worldwide, often occurring on the face. Both the condition and treatment can lead to scarring and facial disfigurement, affecting a patient's health-related quality of life (HRQoL), which can be measured using patient-reported outcome measures (PROMs). This systematic review identifies PROMs for facial skin cancer and appraises their methodological quality and psychometric properties using up-to-date methods. METHODS: MEDLINE, EMBASE, PsychINFO, Cochrane and CINAHL were systematically searched in accordance with PRISMA guidelines, identifying all PROMs designed for or validated in facial skin cancer...
October 26, 2018: British Journal of Dermatology
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