The Experts below are selected from a list of 28407 Experts worldwide ranked by ideXlab platform
D Bessis - One of the best experts on this subject based on the ideXlab platform.
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Dermatological manifestations in noonan syndrome a prospective multicentric study of 129 patients positive for mutation
British Journal of Dermatology, 2019Co-Authors: D Bessis, F Moricepicard, E Bourrat, C Abadie, J Miquel, C Chiaverini, Federico Manna, Clarisse BaumannAbstract:BACKGROUND Data on Dermatological manifestations of Noonan syndrome (NS) remain heterogeneous and are based on limited 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. RESULTS Overall, 129 patients with NS were enrolled, including 65 patients with PTPN11-NS, 34 patients with PTPN11-NS with multiple lentigines (NSML), and 30 patients with NS who had a mutation other than PTPN11. Easy bruising was the most frequent Dermatological finding in PTPN11-NS, present in 53·8% of patients. Multiple lentigines and cafe-au-lait macules (n ≥ 3) were present in 94% and 80% of cases of NSML linked to specific mutations of PTPN11, respectively. Atypical forms of NSML could be associated with NS with RAF1 or NRAS mutations. In univariate analysis, patients without a PTPN11 mutation showed (i) a significantly higher frequency of keratinization disorders (P = 0·001), including keratosis pilaris (P = 0·005), ulerythema ophryogenes (P = 0·0001) and palmar and/or plantar hyperkeratosis (P = 0·06, trend association), and (ii) a significantly higher frequency of scarce scalp hair (P = 0·035) and scarce or absent eyelashes (P = 0·06, trend association) than those with PTPN11 mutations. CONCLUSIONS The cutaneous phenotype of NS with a PTPN11 mutation is generally mild and nonspecific, whereas the absence of a PTPN11 mutation is associated with a high frequency of keratinization disorders and hair abnormalities.
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Dermatological manifestations in cardiofaciocutaneous syndrome a prospective multicentric study of 45 mutation positive patients
British Journal of Dermatology, 2019Co-Authors: D Bessis, F Moricepicard, E Bourrat, C Abadie, Safa Aouinti, Cedric Baumann, M Best, Anneclaire Bursztejn, Yline CapriAbstract:BACKGROUND: Data on Dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert Dermatological classification. OBJECTIVES: To describe the Dermatological manifestations of CFCS; to compare them with the literature findings; to assess those discriminating CFCS from other RASopathies, including Noonan syndrome (NS) and Costello syndrome (CS); and to test for Dermatological phenotype-genotype correlations. METHODS: We performed a 4-year, large, prospective, multicentric, collaborative Dermatological and genetic study. RESULTS: Forty-five patients were enrolled. Hair abnormalities were ubiquitous, including scarcity or absence of eyebrows and wavy or curly hair in 73% and 69% of patients, respectively. Keratosis pilaris (KP), ulerythema ophryogenes (UO), palmoplantar hyperkeratosis (PPHK) and multiple melanocytic naevi (MMN; over 50 naevi) were noted in 82%, 44%, 27% and 29% of patients, respectively. Scarcity or absence of eyebrows, association of UO and PPHK, diffuse KP and MMN best differentiated CFCS from NS and CS. Oral acitretin may be highly beneficial for therapeutic management of PPHK, whereas treatment of UO by topical sirolimus 1% failed. No significant Dermatological phenotype-genotype correlation was determined. CONCLUSIONS: A thorough knowledge of CFCS skin manifestations would help in making a positive diagnosis and differentiating CFCS from CS and NS.
Uwe Gieler - One of the best experts on this subject based on the ideXlab platform.
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Occurrence, Chronicity and Intensity of Itch in a Clinical Consecutive Sample of Patients with Skin Diseases: A Multi-centre Study in 13 European Countries.
Acta dermato-venereologica, 2019Co-Authors: Christina Schut, Florence Dalgard, Jon Anders Halvorsen, Uwe Gieler, Lars Lien, Lucía Tomás Aragonés, Françoise Poot, Gregor B.e. Jemec, Laurent Misery, Lajos KeményAbstract:Itch is an unpleasant symptom, affecting many Dermatological patients. Studies investigating the occurrence and intensity of itch in Dermatological patients often focus on a single skin disease and omit a control group with healthy skin. The aim of this multi-centre study was to assess the occurrence, chronicity and intensity (visual analogue scale 0–10) of itch in patients with different skin diseases and healthy-skin controls. Out of 3,530 Dermatological patients, 54.3% reported itch (mean ± standard deviation itch intensity 5.5 ± 2.5), while out of 1,094 healthy-skin controls 8% had itch (3.6 ± 2.3). Chronic itch was reported by 36.9% of the patients and 4.7% of the healthy-skin controls. Itch was most frequent (occurrence rates higher than 80%) in patients with unclassified pruritus, prurigo and related conditions, atopic dermatitis and hand eczema. However, many patients with psychoDermatological conditions and naevi also reported itch (occurrence rates higher than 19%).
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treatment of atopic dermatitis a comparison of psychological and Dermatological approaches to relapse prevention
Journal of Consulting and Clinical Psychology, 1995Co-Authors: Anke Ehlers, Ulrich Stangier, Uwe GielerAbstract:A randomized controlled trial compared the effectiveness of 4 group treatments for atopic dermatitis, a chronic skin disorder characterized by severe itching and eczema: Dermatological educational program (DE), autogenic training as a form of relaxation therapy (AT), cognitive-behavioral treatment (BT), and the combined DE and BT treatments (DEBT). BT comprised relaxation, self-control of scratching, and stress management. Group treatments were also compared with standard medical care (SMC). Assessments at 1-year follow-up showed that the psychological treatments (AT, BT, and DEBT) led to significantly larger improvement in skin condition than intensive (DE) or standard (SMC) Dermatological treatment, accompanied by significant reductions in topical steroids used. The results corroborate preliminary reports that psychological interventions are useful adjuncts to Dermatological treatment in atopic dermatitis.
Katsumi Terasita - One of the best experts on this subject based on the ideXlab platform.
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serum granulysin levels as a predictor of serious telaprevir induced Dermatological reactions
Hepatology Research, 2015Co-Authors: Goki Suda, Yoshiya Yamamoto, Astushi Nagasaka, Ken Furuya, Mineo Kudo, Yoshimichi Chuganji, Yoko Tsukuda, Seiji Tsunematsu, Fumiyuki Sato, Katsumi TerasitaAbstract:Aim Telaprevir-based therapy for chronic hepatitis C patients is effective; however, the high prevalence of Dermatological reactions is an outstanding issue. The mechanism and characteristics of such adverse reactions are unclear; moreover, predictive factors remain unknown. Granulysin was recently reported to be upregulated in the blisters of patients with Stevens–Johnson syndrome (SJS). Therefore, we investigated the risk factors for severe telaprevir-induced Dermatological reactions as well as the association between serum granulysin levels and the severity of such reactions. Methods A total of 89 patients who received telaprevir-based therapy and had complete clinical information were analyzed. We analyzed the associations between Dermatological reactions and clinical factors. Next, we investigated the time-dependent changes in serum granulysin levels in five and 14 patients with grade 3 and non-grade 3 Dermatological reactions, respectively. Results Of the 89 patients, 57 patients had Dermatological reactions, including nine patients with grade 3. Univariate analysis revealed that grade 3 Dermatological reactions were significantly associated with male sex. Moreover, serum granulysin levels were significantly associated with the severity of Dermatological reactions. Three patients with grade 3 Dermatological reaction had severe systemic manifestations including SJS, drug-induced hypersensitivity syndrome, and systemic lymphoid swelling and high-grade fever; all were hospitalized. Importantly, among the three patients, two patients' serum granulysin levels exceeded 8 ng/mL at onset and symptoms deteriorated within 6 days. Conclusion Male patients are at high risk for severe telaprevir-induced Dermatological reactions. Moreover, serum granulysin levels are significantly associated with the severity of Dermatological reactions and may be a predictive factor in patients treated with telaprevir-based therapy.
P S Friedmann - One of the best experts on this subject based on the ideXlab platform.
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Dermatological conditions in intensive care a secondary analysis of the intensive care national audit research centre icnarc case mix programme database
Critical Care, 2008Co-Authors: Susannah M C George, David A Harrison, Catherine A Welch, Kathleen Nolan, P S FriedmannAbstract:Dermatology is usually thought of as an outpatient specialty with low mortality, however some skin conditions require intensive care. These conditions are relatively rare and hence are best studied using clinical databases or disease registries. We interrogated a large, high-quality clinical database from a national audit of adult intensive care units (ICUs), with the aim of identifying and characterising patients with Dermatological conditions requiring admission to ICU. Data were extracted for 476,224 admissions to 178 ICUs in England, Wales and Northern Ireland participating in the Case Mix Programme over the time period December 1995 to September 2006. We identified admissions with Dermatological conditions from the primary and secondary reasons for admission to ICU. A total of 2,245 Dermatological admissions were identified. Conditions included infectious conditions (e.g. cutaneous cellulitis, necrotising fasciitis), Dermatological malignancies, and acute skin failure (e.g. toxic epidermal necrolysis, Stevens–Johnson syndrome and autoimmune blistering diseases). These represent 0.47% of all ICU admissions, or approximately 2.1 Dermatological admissions per ICU per year. Overall mortality was 28.1% in the ICU and 40.0% in hospital. Length of stay in intensive care was longest for those with acute skin failure (median 4.7 days for ICU survivors and 5.1 days for ICU non-survivors). We have identified patients who not only require intensive care, but also Dermatological care. Such patients have high mortality rates and long ICU stays within the spectrum of the UK ICU population, similar to other acute medical conditions. This highlights the importance of skin failure as a distinct entity comparable to other organ system failures.
Yline Capri - One of the best experts on this subject based on the ideXlab platform.
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Dermatological manifestations in cardiofaciocutaneous syndrome a prospective multicentric study of 45 mutation positive patients
British Journal of Dermatology, 2019Co-Authors: D Bessis, F Moricepicard, E Bourrat, C Abadie, Safa Aouinti, Cedric Baumann, M Best, Anneclaire Bursztejn, Yline CapriAbstract:BACKGROUND: Data on Dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert Dermatological classification. OBJECTIVES: To describe the Dermatological manifestations of CFCS; to compare them with the literature findings; to assess those discriminating CFCS from other RASopathies, including Noonan syndrome (NS) and Costello syndrome (CS); and to test for Dermatological phenotype-genotype correlations. METHODS: We performed a 4-year, large, prospective, multicentric, collaborative Dermatological and genetic study. RESULTS: Forty-five patients were enrolled. Hair abnormalities were ubiquitous, including scarcity or absence of eyebrows and wavy or curly hair in 73% and 69% of patients, respectively. Keratosis pilaris (KP), ulerythema ophryogenes (UO), palmoplantar hyperkeratosis (PPHK) and multiple melanocytic naevi (MMN; over 50 naevi) were noted in 82%, 44%, 27% and 29% of patients, respectively. Scarcity or absence of eyebrows, association of UO and PPHK, diffuse KP and MMN best differentiated CFCS from NS and CS. Oral acitretin may be highly beneficial for therapeutic management of PPHK, whereas treatment of UO by topical sirolimus 1% failed. No significant Dermatological phenotype-genotype correlation was determined. CONCLUSIONS: A thorough knowledge of CFCS skin manifestations would help in making a positive diagnosis and differentiating CFCS from CS and NS.