Robert Sarkany

230 Solar urticaria is associated with novel rare missense variants in ACACA

Sheila M. McSweeney, Y Kothari, Hiva Fassihi, Robert Sarkany et autres

gb (code pays fourni par la source)

A Patient in the UK With Severe “P” Type Actinic Prurigo Successfully Treated With Ciclosporin

Sam Hughes, Caroline Owen, John Ferguson, Hiva Fassihi et autres

The data that support the findings of this study are available from the corresponding author upon reasonable request.

gb (code pays fourni par la source)

PD08 Developing an effective intervention to improve photoprotection behaviour in xeroderma pigmentosum: results of the XPAND trial

Robert Sarkany, Jessica Walburn, Sam Norton, Martha Canfield et autres

Abstract Premature death in patients with xeroderma pigmentosum (XP) is most commonly due to metastatic skin cancer. In total, 80% of the skin cancers in XP are on the face, head and neck. So rigorous ultraviolet protection, especially of the face, is …

gb, de, us, dk (code pays fourni par la source)

PD09 Life expectancy of patients with xeroderma pigmentosum: evidence from a UK study

Alexandra Paolino, Ruth H. Keogh, Sinéad Langan, Alan R. Lehmann et autres

Abstract Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair, characterized by extreme sensitivity to ultraviolet radiation. Patients are at risk of skin cancers and ocular surface disease, and approximately one-third of patients experience progressive neurodegeneration. Life expectancy varies …

au, gb (code pays fourni par la source)

PD01 Liver fibroscanning identifies hepatic fibrosis at an early stage in erythropoietic protoporphyria: a new analysis in 132 patients

Sam Hughes, Oliver Tavabie, Hiva Fassihi, Adam Fityan et autres

Abstract Around 1–5% of patients with erythropoietic protoporphyria (EPP) develop liver cirrhosis leading to liver failure. It is not possible to predict who these patients will be, and liver disease is often not identified until late. Liver function tests are the standard …

th, us, gb (code pays fourni par la source)

PD02 Xeroderma pigmentosum: from first symptoms to diagnosis

Alexandra Paolino, Sally Turner, Tanya Henshaw, Karla Balgos et autres

Abstract There is marked heterogeneity in the clinical features of xeroderma pigmentosum (XP), both between and within complementation groups. Effective management relies on early diagnosis, stringent photoprotection to mitigate skin cancer-related morbidity and mortality, and regular dermatological and ophthalmological examinations to detect …

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PD06 (P132) Early insights from a UK registry of patients with vitiligo

John Ferguson, Andrew Wildman, Andrew McGovern, Hiva Fassihi et autres

Abstract Despite its prevalence and significant social, psychological and health impacts, vitiligo is an understudied condition. We present early insights into clinical features associated with vitiligo progression using the Vitiligo Registry and Bioresource (VOICE) developed at the specialist vitiligo service at a …

th, us (code pays fourni par la source)

P132 Early insights from a UK registry of patients with vitiligo

John Ferguson, Andrew Wildman, Andrew McGovern, Hiva Fassihi et autres

Abstract Despite its prevalence and significant social, psychological and health impacts, vitiligo is an understudied condition. We present early insights into clinical features associated with vitiligo progression using the Vitiligo Registry and Bioresource (VOICE) developed at the specialist vitiligo service at a …

th, us (code pays fourni par la source)

Sun protection

Robert Sarkany

gb (code pays fourni par la source)

Characterization of the clinical and photobiologic features of solar urticaria: a UK multicentre cross-sectional study

Navandeep Thumber, Hana El-Sbahi, Conn McGrath, Evangelos Christou et autres

Solar urticaria (SU) is a rare photodermatosis characterized by abnormal immune responses to specific wavelengths of solar radiation with release of histamine and other mediators from cutaneous mast cells. Clinically, it manifests within minutes of sun exposure, causing erythemal flares and wheals …

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‘Actinic Prurigo’: A Phrase Describing Four Different Diseases in Four Different Continents: Systematic Review and Analysis

Einapak Boontaveeyuwat, Hiva Fassihi, Robert Sarkany

BACKGROUND: There are no internationally agreed diagnostic criteria for actinic prurigo. OBJECTIVE: To analyze the clinical features of all patients ever reported in the medical literature with a diagnosis of 'actinic prurigo'. METHODS: A systematic literature review of all case reports, case …

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Improved photoprotection in the UVA/visible radiation boundary region is essential to prevent DNA damage, oxidative stress and gene expression changes in human skin

Karl Lawrence, Thierry Douki, Robert Sarkany, Stephanie Acker et autres

Abstract Background Studies have demonstrated the potential for damage caused by exposure to radiation at the UVR/visible border region (380–410 nm) and beyond. This includes potentially mutagenic delayed DNA damage, increased gene expression related to photoageing and inflammation, pigmentation and the production …

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