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British Journal of Dermatology

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https://www.readbyqxmd.com/read/28093717/16-novel-mutations-in-pnpla1-in-patients-with-autosomal-recessive-congenital-ichthyosis-reveal-the-importance-of-an-extended-patatin-domain-in-pnpla1-that-is-essential-for-proper-human-skin-barrier-function
#1
A D Zimmer, G J Kim, A Hotz, E Bourrat, I Hausser, C Has, V Oji, K Stieler, A Vahlquist, V Kunde, B Weber, F P W Radner, S Leclerc-Mercier, N Schlipf, P Demmer, J Küsel, J Fischer
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous group of rare Mendelian skin disorders characterized by cornification and differentiation defects of keratinocytes. Mutations in nine genes including PNPLA1 are known to cause non-syndromic forms of ARCI. To date, only ten distinct pathogenic mutations in PNPLA1 have been reported. OBJECTIVES: To identify new causative PNPLA1 mutations, we screened genetically unresolved cases including our ARCI collection comprising more than 700 families...
January 17, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28083871/an-exploratory-study-to-investigate-health-seeking-behaviour-in-patients-with-psoriasis-using-framework-analysis
#2
J K Simpson, M Wilson, A A Ahmed, A Mizara, A Clarke, S R McBride
BACKGROUND: Psoriasis is a long-term inflammatory skin disorder, with negative effects on employment, relationships and social function frequently causing reduced quality of life. People with psoriasis often present to secondary care late into their condition but reasons for this are unknown. OBJECTIVES: This observational study examines the patient pathway, health-seeking behaviour and drivers for referral to secondary care in patients with psoriasis. METHODS: Sixteen patients with mild to severe psoriasis, newly referred to secondary care participated in semi-structured interview...
January 13, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28083870/the-ethnicity-profile-of-patients-with-birthmarks-reveals-interaction-of-germline-and-post-zygotic-genetics
#3
LETTER
S Polubothu, V A Kinsler
GNA11 and GNAQ are highly homologous genes encoding different Gα subunits of heterotrimeric G-proteins. We recently described post-zygotic activating mutations in GNA11 or GNAQ as causes of Phakomatosis Pigmentovascularis (PPV), and GNAQ mosaicism as a cause of Extensive Dermal Melanocytosis (EDM)(1) . GNAQ mosaicism has previously been found to cause Sturge-Weber syndrome (SWS) and isolated non-syndromic port-wine stain type capillary malformations (2) . This article is protected by copyright. All rights reserved...
January 13, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28078678/a-seamless-phase-i-ii-dose-finding-trial-assessing-ingenol-disoxate-leo-43204-for-field-treatment-of-actinic-keratosis-on-the-scalp
#4
J Weiss, M Ulrich, M Bukhalo, M L Østerdal, B Bang, C W Hanke
BACKGROUND: Actinic keratosis (AK) is a common sun-related skin condition, which can progress to squamous cell carcinoma and occur in cancerised fields. OBJECTIVES: This Phase I/II trial investigated the safety and efficacy of ingenol disoxate as topical field therapy for patients with AK on the balding scalp. METHODS: Part 1 was a Phase I, open-label, dose-escalation trial investigating up to 6 doses of ingenol disoxate to determine the maximum tolerated dose (MTD)...
January 12, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28078672/determinants-for-drug-survival-of-methotrexate-in-patients-with-psoriasis-split-for-different-reasons-of-discontinuation-results-of-the-prospective-mtx-capture
#5
M Otero, J van den Reek, M Seyger, P Van Der Kerkhof, W Kievit, E de Jong
BACKGROUND: Methotrexate is a widely used treatment for psoriasis. It is important to gain insight into the reasons for discontinuation of methotrexate and determinants for drug survival. OBJECTIVES: To describe 5-year drug survival for methotrexate in patients with psoriasis split for different reasons of discontinuation, and to identify determinants for drug survival. METHODS: Data were extracted from a prospective psoriasis registry of patients treated with methotrexate (MTX-CAPTURE)...
January 12, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28078671/melanoma-in-congenital-melanocytic-naevi
#6
REVIEW
V A Kinsler, P O'Hare, N Bulstrode, J E Calonje, W K Chong, D Hargrave, T Jacques, D Lomas, N J Sebire, O Slater
Congenital melanocytic naevi (CMN) are a known risk factor for melanoma, with the greatest risk currently thought to be in childhood. There has been controversy over the years about the incidence, and therefore over clinical management of CMN, due partly to the difficulties of histological diagnosis and partly to publishing bias towards cases of malignancy. Large cohort studies have demonstrated that risk in childhood is related to the severity of the congenital phenotype, not only cutaneous but neuroradiological...
January 12, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28078669/maintenance-phase-in-puva-phototherapy-of-early-stage-mycosis-fungoides-a-critically-appraised-topic
#7
REVIEW
V Grandi, C Delfino, A Pileri, N Pimpinelli
A 65-years-old patient affected by mycosis fungoides stage IB achieved complete remission after a cycle of PUVA phototherapy. As suggested by USCLC guidelines(1) , the patient should be kept in maintenance phase, defined as "period of gradual decrease of frequency of UVL while in clinical remission before discontinuation of phototherapy" by slowly tapering the number of PUVA applications over time up to clinical relapse. USCLC also suggest a standardized schedule for maintenance phase (table 1). Alternatively, the patient could end PUVA therapy and go straight to follow up...
January 12, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28078666/pediatric-erdheim-chester-disease-with-aggressive-skin-manifestations
#8
H-H Su, W Wu, Y Guo, H-D Chen, S-J Shan
Erdheim-Chester disease (ECD), one type of systemic non-Langerhans cell histiocytosis, is uncommon and characterized by the accumulation of CD68+/CD1a- foamy histiocytes. It is extremely rare in children. The skin lesions of pediatric ECD was not systemically described before. We report a case of ECD in a 3.5 year old Chinese boy. The patient present with generalized skin and bone involvement for 3 years duration. Marked generalized annular maculopapular lesions with central atrophy which differed from previously reported adult xanthoma-like papules or periorbital xanthelasma-like lesions...
January 12, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28078663/inhibition-of-hsp90-exerts-anti-tumor-effect-on-angiosarcoma-involvement-of-vegf-signaling-pathway
#9
S Yamada-Kanazawa, I Kajihara, S Fukushima, M Jinnin, M Masuzawa, M Masuzawa, Y Amoh, D Hoshina, R Abe, H Ihn
BACKGROUND: Angiosarcoma is a rare malignant neoplasm derived from endothelial cells and its prognosis is poor because advanced angiosarcoma is resistant to standard chemotherapy, and new therapies are urgently needed. Heat shock protein 90 (HSP90) has been identified as a molecular chaperone that regulates various cancer-related proteins. Numerous clinical trials are testing the effectiveness of HSP90 inhibitors in various types of malignancies. OBJECTIVES: To investigate the role of HSP90 in the pathogenesis of angiosarcoma and whether inhibition of HSP90 may have anti-tumor activity...
January 12, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28052312/frontal-fibrosing-alopecia-a-research-letter
#10
LETTER
L Bomar, A McMichael
Frontal fibrosing alopecia (FFA) is a primary cicatricial alopecia first described by Kossard in 1994. It is considered a clinical variant of lichen planopilaris (LPP). In the last two decades, there have been an explosion of cases worldwide. While predominately seen in Caucasian, post-menopausal women, it has been reported in various ethnicities including African-Americans, Hispanics, Asians, and Indians as well as in pre-menopausal women and men.(1-5) Characterized by progressive, scarring frontotemporal hair loss with perifollicular erythema, follicular keratinization, and reduced follicular orifices, the most common finding is bandlike recession of the scalp hairline...
January 4, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28032892/facing-the-dilemma-of-patient-centred-psoriasis-care-a-qualitative-study-identifying-patient-needs-in-dermatological-outpatient-clinics
#11
L R Khoury, L Skov, T Møller
BACKGROUND: Caregivers must be aware of patients' current needs by providing care responsive to the patients' values and preferences and by identifying what approach improves and encourages patients to participate in their treatment and disease management. Patients with psoriasis healthcare needs perhaps change as medical knowledge improves, new drugs emerge and the healthcare system improves its efficiency due to constant structural development. OBJECTIVES: To explore the unmet needs and health perceptions of people with psoriasis, regarding interaction with clinicians and the structure inherent to consultations in a hospital outpatient dermatological clinic...
December 29, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/28032340/the-burden-of-common-skin-diseases-assessed-with-the-eq5d-a-european-multi-centre-study-in-13-countries
#12
F Balieva, J Kupfer, L Lien, U Gieler, A Y Finlay, L Tomas-Aragonés, F Poot, L Misery, F Sampogna, H van Middendorp, J A Halvorsen, J C Szepietowski, A Lvov, S E Marrón, M S Salek, F J Dalgard
BACKGROUND: Generic instruments measuring health related quality of life (HRQoL), like EQ5D, enable comparison of skin diseases with healthy populations and non-dermatological medical conditions, as well as calculation of utility data. OBJECTIVES: The aims were to measure HRQoL in patients with common skin diseases and healthy controls across Europe using the EQ5D. METHODS: This multi-center observational cross-sectional study was conducted in 13 European countries...
December 29, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/28029683/alopecia-areata-incognita-in-cronkhite-canada-syndrome
#13
S Ong, C Rodriguez-Garcia, S Grabczynska, J Carton, M Osborn, J Walters, F Kubba, C M Stefanato
Cronkhite-Canada syndrome is an acquired inflammatory polyposis syndrome in which alopecia, onychomadesis and hyperpigmentation occur concurrently with gastrointestinal symptoms. The pathophysiology of alopecia in Cronkhite-Canada Syndrome has not been definitively elucidated and we present evidence for alopecia incognita as a possible mechanism of hair loss. This article is protected by copyright. All rights reserved.
December 28, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/28028810/three-dimensional-evaluation-of-subclinical-extension-of-extramammary-paget-s-disease-visualization-of-histological-border-and-its-comparison-to-clinical-border
#14
T Murata, T Honda, G Egawa, A Kitoh, T Dainichi, A Otsuka, S Nakajima, S Kore-Eda, Y Kaku, S Nakamizo, Y Endo, A Fujisawa, Y Miyachi, K Kabashima
BACKGROUND: In extramammary Paget's disease (EMPD), Paget cells are sometimes detected outside the clinical border (subclinical extension). The spreading pattern of Paget cells in subclinical extension, however, remains unclear. In addition, the macroscopic appearances of lesions accompanied by subclinical extension are totally unknown. OBJECTIVES: To characterize the spreading pattern of Paget cells as well as the macroscopic appearance of lesions of EMPD with subclinical extension...
December 27, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/28028807/topical-photodynamic-therapy-for-primary-bowen-s-disease-and-basal-cell-carcinoma-optimising-patient-selection
#15
LETTER
R Hambly, N Mansoor, C Quinlan, Z Shah, P Lenane, N Ralph, F J Moloney
Topical photodynamic therapy (PDT) is widely used in the treatment of Bowen's Disease (BD) and Basal Cell Carcinoma (BCC) and is known to be effective.(1,2) However there is little evidence available on the impact of patient, lesion and treatment characteristics on the effectiveness of therapy. This article is protected by copyright. All rights reserved.
December 27, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/28012183/a-comparison-study-of-clinician-rated-atopic-dermatitis-outcome-measures-for-intermediate-to-dark-skin-patients
#16
C Y Zhao, E Y Hao, D D Oh, B S Daniel, L K Martin, J C Su, M Rodrigues, D F Murrell
BACKGROUND: Atopic dermatitis (AD) assessment is more difficult in patients with skin of colour (SOC). We sought to compare the reliability of commonly used outcome measures for assessing AD in SOC patients and evaluated a novel greyscale in this population. METHOD: Twenty-five AD patients each attended a one-day scoring exercise based in either Sydney or Melbourne, Australia. Each patient was scored by the same five physicians using the Eczema Area Severity Index (EASI), objective-Scoring Atopic Dermatitis score (oSCORAD), Investigator's Global Assessment (IGA) and a novel greyscale...
December 23, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/28012182/development-of-a-multidimensional-assessment-tool-for-uremic-pruritus-in-dialysis-patients-up-dial
#17
S Nochaiwong, C Ruengorn, R Awiphan, S Panyathong, K Noppakun, W Chongruksut, S Chiewchanvit
BACKGROUND: Dialysis patients with uremic pruritus (UP) have a significantly impaired quality of life. To assess the therapeutic effect of UP treatments, a well-validated comprehensive and multidimensional instrument needed to be established. OBJECTIVES: To develop and validate a multidimensional scale assessing the UP in dialysis patients: Uremic Pruritus in Dialysis Patients (UP-Dial). METHODS: The development and validation of the UP-Dial instrument was conducted in four phases: (1) item generation, (2) development of pilot questionnaire, (3) refinement of questionnaire with patient recruitment, and (4) psychometric validation...
December 23, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/28012181/randomized-controlled-trial-comparing-35-trichloroacetic-acid-peel-and-5-aminolevulinic-acid-photodynamic-therapy-for-the-treatment-of-multiple-actinic-keratosis
#18
G Holzer, A Pinkowicz, S Radakovic, J B Schmidt, A Tanew
BACKGROUND: Photodynamic therapy (PDT) and chemical peels with trichloroacetic acid (TCA) can be applied to larger skin areas and thus are suitable treatment options for patients with multiple actinic keratosis (AK). Despite its long use TCA has, however, only been investigated rarely in this indication. OBJECTIVES: This randomized, observer-blinded, intrapatient comparison study sought to investigate the efficacy and safety of 35% TCA versus 20% aminolevulinic acid PDT (ALA PDT) in patients with extensive field cancerisation and multiple AK in the face or on the scalp...
December 23, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/28012180/dermoscopic-features-of-squamous-cell-carcinoma-on-the-lips
#19
LETTER
E Benati, F Persechino, S Piana, G Argenziano, A Lallas, E Moscarella, F Castagnetti, C Longo
BACKGROUND: Dermoscopy of cutaneous squamous cell carcinoma (SCC) has already been described. However little is known on the dermoscopic features of lip SCC. OBJECTIVES: to describe the clinic and dermoscopic criteria of lip SCC, METHODS: Clinical and dermoscopic images of lip SCC were retrospectively evaluated for the presence of specific dermoscopic criteria. Cases were collected from Skin Cancer Unit of Reggio Emilia, Italy, Dermatology Unit Second University of Naples, Italy, and First Department of Dermatology of Aristotle University of Thessaloniki, Greece...
December 23, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/28012178/painful-skin-lesions-and-squamous-cell-carcinoma-predict-overall-mortality-risk-in-organ-transplant-recipients-a-cohort-study
#20
C C Oh, G F L Hofbauer, A L Serra, C A Harwood, L Mitchell, C M Proby, E B Olasz, D D Mosel, S Piaserico, A B Fortina, A Geusau, K Jahn-Bassler, M J P Gerritsen, D Seçkin, A T Güleç, P Cetkovská, J Ricar, B Imko-Walczuk, A Dębska-Ślizień, J N Bouwes Bavinck
BACKGROUND: Organ transplant recipients have a highly increased risk of cutaneous squamous cell carcinomas. Sensation of pain in cutaneous tumours is a powerful patient-reported warning signal for invasive cutaneous squamous cell carcinomas in organ transplant recipients. OBJECTIVES: The impact of painful compared to painless skin lesions and cutaneous squamous cell carcinoma (SCC) compared to other skin lesions on the overall mortality risk in organ transplant recipients (OTR) was investigated...
December 23, 2016: British Journal of Dermatology
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