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British Journal of Dermatology

M Pavlovsky, O Sarig, M Eskin-Schwartz, N Malchin, R Bochner, J Mohamad, A Gat, A Peled, A Hafner, E Sprecher
Dowling-Degos disease, featuring reticulate pigmentation, and familial hidradenitis suppurativa share many clinical features including autosomal dominant inheritance, flexural location and follicular defects. The co-existence of the two disorders was recently found to result from mutations in PSENEN, encoding protein presenilin enhancer gamma-secretase subunit. Here we report 4 additional families of Jewish Ashkenazi origin who presented with clinical features characteristic of both disorders. All patients were found to carry the same, heterozygous mutation in PSENEN (c...
September 18, 2017: British Journal of Dermatology
A Ascott, S M Langan, I García-Doval, M A Descalzo, S A J Schmidt, T Nijsten, L M Hollestein
The first European Dermato-Epidemiology Network (EDEN) forum was held on 30-31 March 2017 in Madrid, Spain. Dermatoepidemiology describes the study of causes, prevention, health services research and evaluation of interventions of skin diseases. EDEN aims to promote high-quality research, share expertise and facilitate collaboration. These aims were achieved during the EDEN forum by including a preconference course on skin cancer epidemiology; having excellent world-leading guest speakers on causality, quality of care, pharmacoepidemiology and missing data analysis; and including delegates who presented and discussed innovative research findings...
September 17, 2017: British Journal of Dermatology
I M Miller, O Ahlehoff, K Zarchi, H Rytgaard, U B Mogensen, C Ellervik, G B Jemec
We performed a comparative cross-sectional study of the potential association of HS and the three outcome events: self-reported MI, self-reported stroke, and PAD measured by ankle-brachial index (ABI) ≤ 0.9. We included a self-reported HS group (n=430) identified in the general suburban population study (GESUS) using a validated questionnaire (2) (Table 1).The control group comprised participants from GESUS without HS, n=20,780. This article is protected by copyright. All rights reserved.
September 15, 2017: British Journal of Dermatology
I F Nagtzaam, V P M Peeters, M Vreeburg, A Wagner, P M Steijlen, M van Geel, M A M van Steensel
Ichthyosis-hypotrichosis-sclerosing-cholangitis (IHSC is a rare autosomal recessive syndrome of ichthyosis, scalp hypotrichosis, and sclerosing cholangitis (MIM 607626).[1, 2] Oligodontia, hypodontia and dysplastic enamel have been described as well, as have intracytoplasmic vacuoles in eosinophils, mild psychomotor delay and bilateral anterior uveal synechiae.[2] IHSC is caused by homozygous mutations in the CLDN1 gene which codes for claudin-1, a key component of tight junctions in association with Occludin and junctional adhesion molecules...
September 14, 2017: British Journal of Dermatology
M Hietikko, K Hervonen, T Salmi, T Ilus, J J Zone, K Kaukinen, T Reunala, K Lindfors
Dermatitis herpetiformis (DH) is an itchy, blistering skin disease characterised by the deposition of granular immunoglobulin A (IgA) in the papillary dermis. It is regarded as the cutaneous manifestation of coeliac disease, an autoimmune-mediated condition affecting the small intestine. In addition to skin symptoms, DH patients have mostly subclinical small-intestinal villous atrophy and crypt hyperplasia or at least coeliac-type inflammatory changes. Moreover, DH patients have specific antibodies targeting epidermal transglutaminase (a...
September 14, 2017: British Journal of Dermatology
A Hotz, C Fagerberg, A Vahlquist, A Bygum, H Törmä, M-A Rauschendorf, H Zhang, L Heinz, E Bourrat, I Hausser, V Vestergaard, A Dragomir, A D Zimmer, J Fischer
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and SULT2B1.(1-6) Furthermore, seven patients from a large consanguineous family were described as ARCI due to a homozygous mutation in LIPN.(7) However, the first symptoms appeared only from the age of 5 years and the criterion of a congenital form of ichthyosis is not fulfilled...
September 14, 2017: British Journal of Dermatology
A Eyraud, L Scouppe, T Barnetche, E Forcade, E Lazaro, P Duffau, C Richez, J Seneschal, M-E Truchetet
We aimed at assessing the efficacy of autologous haematopoietic stem cell transplantation (HSCT) for skin sclerosis and lung function in systemic sclerosis (SSc). We performed a systematic literature review in the Pubmed and Scopus databases from the earliest records to March 2016. We assessed quality using the Cochrane tool for randomized studies, Newcastle-Ottawa scale for controlled-cohort studies and an 18-item quality appraisal checklist for case series. The primary outcome was the improvement of skin thickening using the modified Rodnan Skin Score (mRSS)...
September 14, 2017: British Journal of Dermatology
R Majeed-Ariss, M McPhee, C Bundy, C E M Griffiths, H Young
BACKGROUND: Psoriasis affects over two million people in the UK. It confers a significant psychological and social impact on individuals and an associated high economic cost to the National Health Service. There are many unanswered questions about psoriasis. OBJECTIVES: 1. To develop a protocol in order to work with patients, families, carers and healthcare professionals to identify psoriasis uncertainties. 2. To agree by consensus a top ten list of psoriasis uncertainties...
September 14, 2017: British Journal of Dermatology
G Shalom, E Magen, M Babaev, A Horev, T Freud, G Ben Yakov, D Comaneshter, D A Vardy, A D Cohen
The human body interacts with the environment mainly through three major tissues: the lungs, skin, and gastrointestinal (GI) tract. In each one, an intensive nervous network is present, conjugated with abundant mast cells (MC). While MC-mediated disorders in airways and the skin are extensively discussed, MC-mediated disorders of the GI tract remain relatively uncommon. Since the GI tract is one of the three main environment-interacting tissues, it is reasonable that MC-mediated disorders of the GI may have the same weight and impact as asthma or chronic urticaria (CU)...
September 14, 2017: British Journal of Dermatology
S N Chee, L Novakovic, H Fassihi, T Garibaldinos, R Sarkany
Chronic actinic dermatitis (CAD) is a debilitating photodermatosis. First line therapy consists of strict photoprotection and topical corticosteroids. Second line therapy uses systemic immunosuppression. However an alternative is needed for patients with severe CAD who cannot use systemic immunosuppressants.(1,2) Case reports and small case series suggest that PUVA may be effective.(3-6) This article is protected by copyright. All rights reserved.
September 10, 2017: British Journal of Dermatology
R Stranzenbach, E Dippel, M Schlaak, R Stadler
We thank the authors Lewis, Kim, and Duvic, for their reaction to our article. The increasingly personalised medicine should also take into account individual tumour entities and their inter-individual pathways. Therefore, we can only welcome and sustain the comments. As described in our article, it is possible, in some patients, to reduce the dose and interval frequency of Brentuximab Vedotin (BV), while continuing to have good efficacy. This article is protected by copyright. All rights reserved.
September 10, 2017: British Journal of Dermatology
P Dávila-Seijo, M A Descalzo
Egeberg et al(1) enriched us by describing the limitations of registries in psoriasis, but focusing their critical perspective on a misguided outcome measure such as "drug survival". We agree that clinicians and researchers should be cautious when using that proxy measure.(2,3) However, the frequent use of this poor outcome should not cast doubts over all the capabilities of registries. This article is protected by copyright. All rights reserved.
September 10, 2017: British Journal of Dermatology
D J Lewis, Y H Kim, M Duvic
Stranzenbach et al. propose alternate dosing regimens of brentuximab vedotin (BV) for CD30+ cutaneous T-cell lymphomas (CTCLs) such as mycosis fungoides (MF) and primary cutaneous anaplastic large cell lymphoma (pcALCL).(1) They emphasize that lower doses or less frequent dosing schedules for CTCL may be equally effective while limiting adverse events. The authors indicate that CTCLs may require less aggressive therapy than systemic lymphomas such as systemic ALCL (sALCL) or Hodgkin lymphoma (HL). This article is protected by copyright...
September 10, 2017: British Journal of Dermatology
A Egeberg, A Nast
We are pleased that our initial perspective article in the BJD have sparked discussions. As indicated in our initial paper, our main critical point is the exponential growth in publications relating to drug survival as an efficacy assessment based on non-randomized registry data (Figure 1). Indeed, we ourselves have performed such drug survival analyses.(1) While we agree that methods such as propensity score matching could even out some of the between-drug variations in patient characteristics, propensity score matching is a rare sight in drug survival studies...
September 10, 2017: British Journal of Dermatology
N J Downs, S L Harrison
BACKGROUND: National standards for clothing designed to protect the wearer from the harmful effects of solar ultraviolet radiation (UVR) have been implemented in Australia/New Zealand, Europe, and the USA. Industry standards reflect the need to protect the skin by covering a considerable proportion of the potentially exposed body surface area (BSA) and by reducing UVR-transmission through fabric (the Ultraviolet Protection Factor; UPF). OBJECTIVES: This research aimed to develop a new index for rating sun-protective clothing that incorporates the BSA coverage of the garment in addition to the UPF of the fabric...
September 8, 2017: British Journal of Dermatology
Z J Wolner, S Bajaj, E Flores, C Carrera, C Navarrete-Dechent, S W Dusza, H S Rabinovitz, M A Marchetti, A A Marghoob
Detecting basal cell carcinomas (BCCs) early and at relatively small sizes may expand therapeutic choices and enable less invasive treatment options. To this end, dermoscopy is a useful tool to diagnose BCC at early stages with high sensitivity and specificity.(1) Superficial BCCs have been shown to be independently associated with location on the trunk and extremities and nodular BCCs have been independently associated with a head/neck location.(2,3) Few studies have evaluated dermoscopic variation in BCC morphology as a function of anatomic location and pigmentation status...
September 8, 2017: British Journal of Dermatology
L K Hoffman, M Ghias, S R Cohen, M A Lowes
Hidradenitis suppurativa (HS) is a chronic, painful inflammatory skin disease characterized by recurrent nodules and abscesses affecting intertriginous areas including the axilla, inframammary, and anogenital regions. Hurley staging (I-III) is commonly used to classify patients, with mild disease limited to inflammatory cystic nodules (stage I), that may be connected by isolated tunnels/sinuses (stage II), or form a network of bridging tunnels/sinuses (stage III) associated with odiferous, purulent drainage...
September 8, 2017: British Journal of Dermatology
T Gracia-Cazaña, N Salazar, J Vera-Álvarez, J Aguilera, N López-Navarro, E Herrera-Ceballos, S González, Á Juarranz, Y Gilaberte
Bowen's disease (BD) is an intraepidermic squamous cell carcinoma (SCC), which principally appears on photoexposed areas.(1) Methyl-aminolevulinate (MAL) photodynamic therapy (PDT) is an excellent option for the treatment of BD (strength of recommendation, A; quality of evidence, 1). However, despite good response rates, some tumors prove non-responsive due to primary or acquired resistance.(2) The present study sought to identify clinical, histological, and molecular variables implicated in the response to MAL-PDT in BD...
September 8, 2017: British Journal of Dermatology
J H Chong, S Prey, H T Mya, A Delarue, C Labreze
Propranolol is the first-line medical treatment of complicated infantile hemangiomas (IH)(1) . It was suggested that a heart rate (HR) reduction of more than 20% compared to baseline HR might be an early marker of response to propranolol(2) . We aim to explore the relationship between the extent of HR reduction and clinical response of IH to propranolol. This article is protected by copyright. All rights reserved.
September 8, 2017: British Journal of Dermatology
J P H M Kessels, H Kreukels, P J Nelemans, M H Roozeboom, H van Pelt, K Mosterd, E R M de Haas, N W J Kelleners-Smeets
BACKGROUND: Basal cell carcinoma (BCC) is the most common type of skin cancer with growing incidence rates. Photodynamic therapy (PDT) is a frequently used treatment, especially for superficial BCC (sBCC). Two topical photosensitizing agents are currently used to treat sBCC: 5-aminolevulinic acid (ALA) and its methyl-ester (MAL). Previous research showed a high efficacy of ALA-PDT using a 2-fold fractionated illumination scheme in which two light fractions of 20 and 80 J/cm2 are delivered, four and six hours after ALA application...
September 8, 2017: British Journal of Dermatology
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