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1.
Australas J Dermatol ; 62(4): e496-e503, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34642934

RESUMEN

BACKGROUND: The differentiation between the pemphigoid diseases is essential for treatment and prognosis. In Turkey, data on the incidence of these diseases are insufficient. Our aim in this study is to determine the incidence, demographics and clinical characteristics associated with diseases of the pemphigoid group. METHODS: We prospectively analysed 295 patients with pemphigoid who visited dermatology clinics of tertiary referral hospitals in 12 different regions of Turkey within a year. The diagnosis was based on clinical, histopathological, direct immunofluorescence (DIF) and serological (multivariant enzyme-linked immunosorbent assay [ELISA], indirect immunofluorescence and mosaic-based BIOCHIP) examinations. Clinical and demographic findings, aetiological factors and concomitant diseases observed in the patients were recorded. RESULTS: A total of 295 (female/male ratio: 1.7/1) patients with pemphigoid were diagnosed in 1-year period. The overall incidence rate of pemphigoid diseases was found to be 3.55 cases per million-years. The ratio of pemphigoid group diseases to pemphigus group diseases was 1.6. The most common pemphigoid type was bullous pemphigoid (BP, 93.2%). The others were epidermolysis bullosa acquisita (3.1%), pemphigoid gestationis (2.4%), linear IgA disease (1%) and mucous membrane pemphigoid (0.3%). The most common (26.8%) possible trigger of the bullous pemphigoid was gliptin derivative drugs. The most common concomitant diseases with pemphigoid were cardiovascular (27.8%) and neurological diseases (23.7%). CONCLUSIONS: This study showed that the increased frequency of bullous pemphigoid reversed the pemphigoid/pemphigus ratio in Turkey. Further studies are warranted regarding the reasons for this increase.


Asunto(s)
Penfigoide Ampolloso/diagnóstico , Penfigoide Ampolloso/epidemiología , Pénfigo/diagnóstico , Pénfigo/epidemiología , Adolescente , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Distribución por Sexo , Turquía/epidemiología , Adulto Joven
2.
Am J Hum Genet ; 99(6): 1292-1304, 2016 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-27866708

RESUMEN

Uncombable hair syndrome (UHS), also known as "spun glass hair syndrome," "pili trianguli et canaliculi," or "cheveux incoiffables" is a rare anomaly of the hair shaft that occurs in children and improves with age. UHS is characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Until now, both simplex and familial UHS-affected case subjects with autosomal-dominant as well as -recessive inheritance have been reported. However, none of these case subjects were linked to a molecular genetic cause. Here, we report the identification of UHS-causative mutations located in the three genes PADI3 (peptidylarginine deiminase 3), TGM3 (transglutaminase 3), and TCHH (trichohyalin) in a total of 11 children. All of these individuals carry homozygous or compound heterozygous mutations in one of these three genes, indicating an autosomal-recessive inheritance pattern in the majority of UHS case subjects. The two enzymes PADI3 and TGM3, responsible for posttranslational protein modifications, and their target structural protein TCHH are all involved in hair shaft formation. Elucidation of the molecular outcomes of the disease-causing mutations by cell culture experiments and tridimensional protein models demonstrated clear differences in the structural organization and activity of mutant and wild-type proteins. Scanning electron microscopy observations revealed morphological alterations in hair coat of Padi3 knockout mice. All together, these findings elucidate the molecular genetic causes of UHS and shed light on its pathophysiology and hair physiology in general.


Asunto(s)
Antígenos/genética , Enfermedades del Cabello/genética , Cabello/crecimiento & desarrollo , Hidrolasas/genética , Proteínas de Filamentos Intermediarios/genética , Mutación , Transglutaminasas/genética , Adolescente , Animales , Secuencia de Bases , Línea Celular , Codón sin Sentido , Femenino , Cabello/anomalías , Cabello/anatomía & histología , Cabello/metabolismo , Humanos , Hidrolasas/deficiencia , Hidrolasas/metabolismo , Masculino , Ratones , Ratones Noqueados , Modelos Moleculares , Mutación Missense/genética , Conformación Proteica , Arginina Deiminasa Proteína-Tipo 3 , Desiminasas de la Arginina Proteica , Transglutaminasas/deficiencia , Transglutaminasas/metabolismo , Vibrisas/anomalías
3.
Postepy Dermatol Alergol ; 34(5): 464-467, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-29507562

RESUMEN

INTRODUCTION: The role of oxidative stress in the pathogenesis of psoriasis has been investigated in previous studies with conflicting results. On the other hand, well-established treatments currently used in psoriasis exert their effects via a boost of oxidative stress. Recently, a strong positive association between psoriasis, metabolic syndrome and dyslipidemia has also been described showing the complex nature of the disease. AIM: To examine thiol/disulphide homeostasis, a newly developed homeostasis assay in psoriasis and evaluate the possible association between thiol/disulphide homeostasis and dyslipidemia in psoriasis. MATERIAL AND METHODS: The study population included 92 psoriasis patients and 71 healthy subjects. Serum native thiol, total thiol and disulphide levels were investigated in patients with psoriasis and in healthy subjects. In addition, lipid profile (serum total cholesterol, triglyceride, high-density lipoprotein cholesterol and low-density lipoprotein cholesterol) levels were investigated in both groups. The association between thiol-disulphide parameters and dyslipidemia was also evaluated. RESULTS: Serum total cholesterol and triglyceride levels were found to be higher in patients with psoriasis than in the healthy group. Lower plasma disulphide and higher native thiol levels were found in patients with psoriasis indicating an antioxidant status. CONCLUSIONS: To our knowledge, this is the first study showing the shift of dynamic thiol/disulphide homeostasis towards the thiol form in psoriasis which indicate higher antioxidant status.

4.
Postepy Dermatol Alergol ; 33(5): 375-380, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-27881943

RESUMEN

INTRODUCTION: The size and number of acquired melanocytic nevi (AMN) and presence of dysplastic nevi are the leading risk factors that should be recognized in the development of malignant melanoma. AIM: To evaluate AMN and risk factors in the development of AMN in all age groups admitted to a dermatology outpatient clinic. MATERIAL AND METHODS: Four hundred and twelve patients who were admitted to the dermatology outpatient clinic for any dermatological symptom and who accepted to participate in the study were randomly included in the study. For each case, background-family history and dermatological findings were recorded. All AMN observed in the patients were dermatoscopically examined. RESULTS: The presence of more than 50 nevi was significantly higher in males, in individuals who had a history of sunburn and smokers. The number of nevi that were 5 mm and below was found to be higher in individuals who regularly sunbathed their face/body, in individuals using sunscreen, in individuals who had a history of sunburn, smokers and alcohol users. The number of nevi that were above 5 mm was higher in smokers. The total dermatoscopy score between 4.75 and 5.45 was found to be higher in individuals who had more than 50 nevi, in individuals exposed to more than one chemical substance and in alcohol users. CONCLUSIONS: When determining the patient's risk factors, factors such as the patient's sunbathing habits and chemical substance exposure features should be taken into consideration besides the number and size of nevi.

5.
Indian J Exp Biol ; 53(1): 25-30, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25675708

RESUMEN

We investigated the effect of oxidative systems on plasma proteins using Chloramine-T, a source of free radicals. Plasma specimens from 10 healthy volunteers were treated with 40 mmol/L Chloramine-T (1:1 v/v). Total protein and plasma carbonyl levels were evaluated spectrophotometrically. Identification of plasma proteins modifications was performed by SDS-PAGE, protein and lipid electrophoresis. Protein fragmentation was evaluated by HPLC. Total protein levels of oxidised plasmas were significantly lower (4.08 ± 0.12 g/dL) than control (7.86 ± 0.03 g/dL) (P < 0.01). Plasma carbonyl levels were higher (1.94 ± 0.38 nmol/mg protein) in oxidised plasma than that of control (0.03 ± 0.01 nmol/mg protein) (P < 0.01). Plasma oxidation had no significant effect on the levels of proteins and lipids. Protein fragmentations were detected in oxidised groups compared to those of the control. We conclude that protein modifications have direct effect on the protein functions, which are related to stress agent, its treatment period(s), and the methodology used for evaluating such experimental results.


Asunto(s)
Proteínas Sanguíneas/metabolismo , Estrés Oxidativo , Cromatografía Líquida de Alta Presión , Electroforesis en Gel de Agar , Electroforesis en Gel de Poliacrilamida , Humanos
6.
Postepy Dermatol Alergol ; 32(4): 286-9, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26366153

RESUMEN

INTRODUCTION: Human papillomavirus (HPV) is one of the most common causes of sexually transmitted diseases (STD). The incidence of condyloma acuminata (CA) has increased in recent years. AIM: To determine demographical features and serological test results of STD in patients with CA. MATERIAL AND METHODS: A cross-sectional survey was conducted on 94 patients presenting to a dermatology clinic in Ankara, Middle Anatolia, Turkey. Dermatological examinations were made and the patients completed a questionnaire which consisted of questions about their marital status, partners and condom use. In all cases, VDRL/RPR, anti-HIV, HBsAg, anti-HCV and in 57 cases - HSV type 1-2 IgM and IgG were studied. If the value of VDRL or RPR was positive, TPHA was conducted. RESULTS: In our study, 83 men and 11 women had CA. We could not analyze whether our cases had multiple partners and a habit of condom use as some of the patients did not answer questions about their sexual life. We observed VDRL and TPHA positivity in 3 (3.1%) cases, none of those cases had clinical findings of syphilis and they denied using any therapy for syphilis. HBsAg positivity was found in 3 cases. No anti-HIV and anti-HCV antibody positivity was detected. CONCLUSIONS: The seroprevalence of HBsAg in our study was similar to that of the general population of Turkey. But as we found positive syphilis serology in 3 patients, we suggest that syphilis serology should be investigated in patients with CA.

7.
Postepy Dermatol Alergol ; 32(3): 179-83, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26161058

RESUMEN

INTRODUCTION: Viral warts are common skin condition caused by the human papilloma virus. AIM: To determine the clinical features of warts and therapeutic approaches to warts and compare them with the literature. MATERIAL AND METHODS: A cross-sectional survey was conducted on 362 consecutive patients presenting to a dermatology clinic in Ankara, Middle Anatolia, Turkey. Age, gender, anatomic localization, clinical types, number of warts, and medical therapy histories were recorded. RESULTS: In our study 139 (38.4%) children and 223 (61.6%) adults had warts. Warts were seen in 191 men, and 171 women. The mean age was 24.7 ±13.5. In all groups the incidence and the number of warts were higher in men. Clinical types of warts were vulgar, anogenital, plantar, verruca plana, filiform, and mosaic. Thirty-six (9.9%) of 362 cases had more than one type. The locations of warts were as follows extremities (n = 233, 64.4%), anogenital (n = 86, 23.7%) and head and neck (n = 73, 20.2%). The incidence of anogenital warts was statistically higher in men than women (p < 0.05). Topical medical treatment was the first choice (n = 60, 57.1%). CONCLUSIONS: In our study, the incidence and the number of warts were higher in men, which is different than in previous reports. The anogenital wart (AW) was ranked second in all types of warts. According to this finding, we can say that the frequency of AW has been increased in Turkey. To our knowledge recently there have been no studies investigating the clinical features of viral warts in all ages in the literature.

8.
Postepy Dermatol Alergol ; 32(5): 327-30, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26759539

RESUMEN

INTRODUCTION: Melasma is a common chronic, acquired pigmentation disorder with a significant impact on the quality of life of patients. AIM: To investigate the etiopathogenetic factors, thyroid functions and thyroid autoimmunity in patients with melasma. MATERIAL AND METHODS: Forty-five women with melasma and 45 age-matched healthy women were included in the study group. A detailed history was taken from the patients including triggering factors of melasma. Serum free triiodothyronine (FT3), free thyroxine (FT4), thyroid-stimulating hormone (TSH), anti-thyroglobulin (AbTG) and anti-thyroid peroxidase (Ab-TPO) were measured and thyroid ultrasonography was performed for each subject. RESULTS: In 26.7% of patients, pregnancy, in 17.8%, oral contraceptive use and in 13.3%, intense sunlight exposure were the triggering factors. 17.8% of patients had a family history of melasma. FT4, TSH and AbTG levels were significantly higher in the patient group. CONCLUSIONS: The results suggest that a combination of factors including pregnancy, oral contraceptive use, sunlight and genetic factors often trigger melasma. Thyroid hormones and thyroid autoimmunity may also play a role in the pathogenesis which needs to be proven by further studies.

9.
Environ Technol ; 35(21-24): 2796-804, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25176483

RESUMEN

Kinetics of sulphur-limestone autotrophic denitrification process in batch assays and the impact of sulphur/limestone ratio on the process performance in long-term operated packed-bed bioreactors were evaluated. The specific nitrate and nitrite reduction rates increased almost linearly with the increasing initial nitrate and nitrite concentrations, respectively. The process performance was evaluated in three parallel packed-bed bioreactors filled with different sulphur/limestone ratios (1:1, 2:1 and 3:1, v/v). Performances of the bioreactors were studied under varying nitrate loadings (0.05 - 0.80 gNO(-)(3) - NL⁻¹ d⁻¹) and hydraulic retention times (3-12 h). The maximum nitrate reduction rate of 0.66 g L⁻¹ d⁻¹ was observed at the loading rate of 0.80 g NO(-)(3) - N L⁻¹ d⁻¹ in the reactor with sulphur/limestone ratio of 3:1. Throughout the study, nitrite concentrations remained quite low (i.e. below 0.5 mg L⁻¹ NO(-)(2) -N. The reactor performance increased in the order of sulphur/limestone ratio of 3:1, 2:1 and 1:1. Denaturing gradient gel electrophoresis analysis of 16S rRNA genes showed quite stable communities in the reactors with the presence of Methylo virgulaligni, Sulfurimonas autotrophica, Sulfurovum lithotrophicum, Thiobacillus aquaesulis and Sulfurimonas autotrophica related species.


Asunto(s)
Reactores Biológicos , Carbonato de Calcio , Nitratos/metabolismo , Nitritos/metabolismo , Azufre , Contaminantes Químicos del Agua/metabolismo , Bacterias/clasificación , Bacterias/genética , Bacterias/metabolismo , Reactores Biológicos/microbiología , ADN Bacteriano/análisis , Electroforesis en Gel de Gradiente Desnaturalizante , Desnitrificación , Cinética , Oxidación-Reducción , Análisis de Secuencia de ADN , Sulfatos/metabolismo , Purificación del Agua/métodos
10.
Arch Dermatol Res ; 316(6): 278, 2024 May 25.
Artículo en Inglés | MEDLINE | ID: mdl-38796658

RESUMEN

Methotrexate (MTX) is commonly used as first-line systemic treatment agent in psoriasis. We aimed to evaluate the clinical characteristics and treatment responses of patients with psoriasis undergoing MTX monotherapy. Data from adult patients with plaque psoriasis who received MTX monotherapy for at least 3 months between April 2012 and April 2022 were retrospectively evaluated in 19 tertiary care centers. Our study included 722 female and 799 male patients, a total of 1521 participants. The average age of the patients was 44.3 ± 15.5 years. Mode of treatment was oral in 20.4% of patients while in 79.4% it was subcutaneous. The median treatment duration was 8 months (IQR = 5-15). The median weekly dose was 15 mg (IQR = 11-15). 1448 (95.2%) patients were taking folic acid supplementation. At week 12, 16.3% of the patients achieved PASI (Psoriasis Area and Severity Index) 90 response while at week 24, 37.3% achieved it. Logistic regression analysis for week 12 identified the following independent factors affecting PASI 90 achievement positively: median weekly MTX dose ≤ 15 mg (P = 0.011), subcutaneous administration (P = 0.005), no prior systemic treatment (< 0.001) and folic acid use (0.021). In logistic regression analysis for week 24; median weekly MTX dose ≤ 15 mg (P = 0.001), baseline PASI ≥ 10 (P < 0.001), no prior systemic treatment (P < 0.004), folic acid use (P = 0.001) and absence of comorbidities (P = 0.009) were determined as independent factors affecting the achievement of PASI 90. Adverse effects were observed in 38.8% of the patients, with nausea/vomiting (23.9%) and transaminase elevation (13%) being the most common. The most common reasons for interruptions (15.3%) and discontinuations (27.1%) of the treatment were patient related individual factors. The use of MTX as the first systemic treatment agent, at doses ≤ 15 mg/week and concurrent folic acid application are positive predictive factors for achieving the target PASI response both at weeks 12 and 24. In our study, which is one of the most comprehensive studies on MTX treatment in psoriasis, we observed that MTX is an effective and safe treatment option.


Asunto(s)
Ácido Fólico , Metotrexato , Psoriasis , Índice de Severidad de la Enfermedad , Humanos , Metotrexato/uso terapéutico , Metotrexato/administración & dosificación , Metotrexato/efectos adversos , Psoriasis/tratamiento farmacológico , Psoriasis/diagnóstico , Femenino , Masculino , Adulto , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del Tratamiento , Ácido Fólico/administración & dosificación , Ácido Fólico/uso terapéutico , Administración Oral , Fármacos Dermatológicos/efectos adversos , Fármacos Dermatológicos/administración & dosificación , Fármacos Dermatológicos/uso terapéutico , Inyecciones Subcutáneas
11.
Int J Dermatol ; 62(2): 202-211, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36281828

RESUMEN

BACKGROUND: A broad spectrum of skin diseases, including hair and nails, can be directly or indirectly triggered by COVID-19. It is aimed to examine the type and frequency of hair and nail disorders after COVID-19 infection. METHODS: This is a multicenter study conducted on consecutive 2171 post-COVID-19 patients. Patients who developed hair and nail disorders and did not develop hair and nail disorders were recruited as subject and control groups. The type and frequency of hair and nail disorders were examined. RESULTS: The rate of the previous admission in hospital due to COVID-19 was statistically significantly more common in patients who developed hair loss after getting infected with COVID-19 (P < 0.001). Telogen effluvium (85%) was the most common hair loss type followed by worsening of androgenetic alopecia (7%) after COVID-19 infection. The mean stress scores during and after getting infected with COVID-19 were 6.88 ± 2.77 and 3.64 ± 3.04, respectively, in the hair loss group and were 5.77 ± 3.18 and 2.81 ± 2.84, respectively, in the control group (P < 0.001, P < 0.001). The frequency of recurrent COVID-19 was statistically significantly higher in men with severe androgenetic alopecia (Grades 4-7 HNS) (P = 0.012; Odds ratio: 2.931 [1.222-7.027]). The most common nail disorders were leukonychia, onycholysis, Beau's lines, onychomadesis, and onychoschisis, respectively. The symptoms of COVID-19 were statistically significantly more common in patients having nail disorders after getting infected with COVID-19 when compared to the control group (P < 0.05). CONCLUSION: The development of both nail and hair disorders after COVID-19 seems to be related to a history of severe COVID-19.


Asunto(s)
Alopecia Areata , COVID-19 , Enfermedades de la Uña , Uñas Malformadas , Masculino , Humanos , COVID-19/complicaciones , COVID-19/epidemiología , Enfermedades de la Uña/epidemiología , Enfermedades de la Uña/etiología , Enfermedades de la Uña/diagnóstico , Uñas , Alopecia/epidemiología , Alopecia/etiología , Cabello
12.
Cephalalgia ; 32(9): 693-9, 2012 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-22659118

RESUMEN

BACKGROUND: Previous studies have reported an increased frequency of restless legs syndrome (RLS) in adult migraine patients. Until now, the frequency of RLS in pediatric patients has not been investigated. We set out to assess the frequency of RLS in children and adolescents with migraine compared to headache-free controls. METHODS: We investigated 111 consecutive patients with a sole diagnosis of migraine with or without aura presenting to the Headache Unit at the Department of Child and Adolescent Psychiatry and 73 headache-free controls for the presence of RLS using a semistructured interview. In addition, we assessed the level of daytime sleepiness by means of the Epworth sleepiness scale (ESS). A second group of headache-free controls was screened for the presence of RLS using an online questionnaire. RESULTS: The frequency of RLS in migraine patients was significantly higher than in controls (22% vs. 5% (p < 0.001) and 8% (p < 0.001)). DISCUSSION: This is the first study suggesting an association between RLS and migraine in the pediatric population. Future studies are needed to determine the extent of sleep disruption in children and adolescents with migraine and comorbid RLS.


Asunto(s)
Migraña con Aura/epidemiología , Migraña sin Aura/epidemiología , Síndrome de las Piernas Inquietas/epidemiología , Adolescente , Estudios de Casos y Controles , Niño , Comorbilidad , Femenino , Humanos , Masculino , Prevalencia , Trastornos del Sueño-Vigilia/epidemiología , Encuestas y Cuestionarios
13.
J Cosmet Dermatol ; 21(9): 3692-3703, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35780311

RESUMEN

OBJECTIVES: In this study covering all of Turkey, we aimed to define cutaneous and systemic adverse reactions in our patient population after COVID-19 vaccination with the Sinovac/CoronaVac (inactivated SARS-CoV-2) and Pfizer/BioNTech (BNT162b2) vaccines. METHODS: This prospective, cross-sectional study included individuals presenting to the dermatology or emergency outpatient clinics of a total of 19 centers after having been vaccinated with the COVID-19 vaccines. Systemic, local injection site, and non-local cutaneous reactions after vaccination were identified, and their rates were determined. RESULTS: Of the 2290 individuals vaccinated between April 15 and July 15, 2021, 2097 (91.6%) received the CoronaVac vaccine and 183 (8%) BioNTech. Systemic reactions were observed at a rate of 31.0% after the first CoronaVac dose, 31.1% after the second CoronaVac dose, 46.4% after the first BioNTech dose, and 46.2% after the second BioNTech dose. Local injection site reactions were detected at a rate of 35.6% after the first CoronaVac dose, 35.7% after the second CoronaVac dose, 86.9% after the first BioNTech dose, and 94.1% after the second BioNTech dose. A total of 133 non-local cutaneous reactions were identified after the CoronaVac vaccine (2.9% after the first dose and 3.5% after the second dose), with the most common being urticaria/angioedema, pityriasis rosea, herpes zoster, and maculopapular rash. After BioNTech, 39 non-local cutaneous reactions were observed to have developed (24.8% after the first dose and 5% after the second dose), and the most common were herpes zoster, delayed large local reaction, pityriasis rosea, and urticaria/angioedema in order of frequency. Existing autoimmune diseases were triggered in 2.1% of the patients vaccinated with CoronaVac and 8.2% of those vaccinated with BioNTech. CONCLUSIONS: There are no comprehensive data on cutaneous adverse reactions specific to the CoronaVac vaccine. We determined the frequency of adverse reactions from the dermatologist's point of view after CoronaVac and BioNTech vaccination and identified a wide spectrum of non-local cutaneous reactions. Our data show that CoronaVac is associated with less harmful reactions while BioNTech may result in more serious reactions, such as herpes zoster, anaphylaxis, and triggering of autoimmunity. However, most of these reactions were self-limiting or required little therapeutic intervention.


Asunto(s)
Angioedema , COVID-19 , Herpes Zóster , Pitiriasis Rosada , Urticaria , Vacunas , Angioedema/inducido químicamente , Vacuna BNT162 , COVID-19/epidemiología , COVID-19/prevención & control , Vacunas contra la COVID-19/efectos adversos , Estudios Transversales , Herpes Zóster/inducido químicamente , Herpes Zóster/prevención & control , Herpesvirus Humano 3 , Humanos , Pitiriasis Rosada/inducido químicamente , Estudios Prospectivos , SARS-CoV-2 , Turquía/epidemiología , Urticaria/inducido químicamente , Vacunación/efectos adversos , Vacunas/efectos adversos
14.
JAMA Dermatol ; 158(11): 1245-1253, 2022 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-36044230

RESUMEN

Importance: Uncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only about 100 known cases have been reported so far. Objective: To elucidate the genetic spectrum of UHS. Design, Setting, and Participants: This cohort study includes 107 unrelated index patients with a suspected diagnosis of UHS and family members who were recruited worldwide from January 2013 to December 2021. Participants of all ages, races, and ethnicities were recruited at referral centers or were enrolled on their own initiative following personal contact with the authors. Genetic analyses were conducted in Germany from January 2014 to December 2021. Main Outcomes and Measures: Clinical photographs, Sanger or whole-exome sequencing and array-based genotyping of DNA extracted from blood or saliva samples, and 3-dimensional protein modeling. Descriptive statistics, such as frequency counts, were used to describe the distribution of identified pathogenic variants and genotypes. Results: The genetic characteristics of patients with UHS were established in 80 of 107 (74.8%) index patients (82 [76.6%] female) who carried biallelic pathogenic variants in PADI3, TGM3, or TCHH (ie, genes that encode functionally related hair shaft proteins). Molecular genetic findings from 11 of these 80 individuals were previously published. In 76 (71.0%) individuals, the UHS phenotype were associated with pathogenic variants in PADI3. The 2 most commonly observed PADI3 variants account for 73 (48.0%) and 57 (37.5%) of the 152 variant PADI3 alleles in total, respectively. Two individuals carried pathogenic variants in TGM3, and 2 others carried pathogenic variants in TCHH. Haplotype analyses suggested a founder effect for the 4 most commonly observed pathogenic variants in the PADI3 gene. Conclusions and Relevance: This cohort study extends and gives an overview of the genetic variant spectrum of UHS based on molecular genetic analyses of the largest worldwide collective of affected individuals, to our knowledge. Formerly, a diagnosis of UHS could only be made by physical examination of the patient and confirmed by microscopical examination of the hair shaft. The discovery of pathogenic variants in PADI3, TCHH, and TGM3 may open a new avenue for clinicians and affected individuals by introducing molecular diagnostics for UHS.


Asunto(s)
Enfermedades del Cabello , Femenino , Masculino , Humanos , Estudios de Cohortes , Enfermedades del Cabello/diagnóstico , Enfermedades del Cabello/genética , Secuenciación del Exoma , Cabello/anomalías , Transglutaminasas
15.
Am J Clin Dermatol ; 11(2): 147-50, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20141236

RESUMEN

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare form of cytotoxic T-cell lymphoma. The disease has a poor prognosis in patients with the complication of hemophagocytic syndrome, especially in those with Epstein-Barr virus (EBV) positivity. A 20-year-old woman presented with multiple, itchy, purplish nodules and excoriations on both of her upper limbs. The histopathologic, immunohistochemical staining, and clonal T-cell receptor gene rearrangement examinations of skin lesions revealed the diagnosis of SPTCL. In situ hybridization performed for EBV was positive. There were no findings suggesting systemic involvement of SPTCL, or hemophagocytic syndrome. The lesions improved with systemic corticosteroid therapy and radiotherapy, with no recurrence. We present a patient with a protracted course of SPTCL in whom EBV positivity was demonstrated. This apparent conflict may be explained by geographic and ethnic variations in EBV infection. Further studies may shed light on the real relationship between EBV-RNA and the course of SPTCL.


Asunto(s)
Linfoma Cutáneo de Células T/diagnóstico , Paniculitis/diagnóstico , Neoplasias Cutáneas/diagnóstico , Dermatitis/diagnóstico , Dermatitis/patología , Femenino , Herpesvirus Humano 4/aislamiento & purificación , Humanos , Linfoma Cutáneo de Células T/patología , Linfoma Cutáneo de Células T/virología , Paniculitis/patología , Paniculitis/virología , ARN Viral/análisis , Conducta Autodestructiva/diagnóstico , Conducta Autodestructiva/patología , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/virología , Adulto Joven
17.
Am J Clin Dermatol ; 10(5): 336-8, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19658447

RESUMEN

A 30-year-old man presented with indurated violaceous plaques all over his body that had been present for 7 months. The patient had also had vitiligo for 3.5 years, and hepatitis B virus (HBV) infection and cirrhosis for a 2-year period. Histopathologic examination of the indurated plaques confirmed the diagnosis of morphea. Localized scleroderma and vitiligo have only rarely been reported to occur simultaneously. Although the etiologies of vitiligo and morphea are both uncertain, their association with autoimmune diseases favors an autoimmune hypothesis. Both vitiligo and morphea might have appeared coincidentally. However, this association could be significant because it may be related to the presence of HBV and alterations in the immune system that are caused by this virus. Therefore, this rare combination of vitiligo and morphea in a patient with chronic HBV infection warrants attention because it suggests a possible immunologic association, which may merit future study.


Asunto(s)
Hepatitis B Crónica/complicaciones , Esclerodermia Localizada/etiología , Vitíligo/etiología , Adulto , Autoinmunidad , Hepatitis B Crónica/inmunología , Humanos , Sistema Inmunológico/virología , Masculino , Esclerodermia Localizada/inmunología , Vitíligo/inmunología
18.
Int J Dermatol ; 58(6): 722-728, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30575019

RESUMEN

BACKGROUND: Once considered a disorder limited to the skin, rosacea is now known to be associated with systemic disorders. The aim of this study was to determine what systemic comorbidities accompany rosacea and to determine the relationship between the type, severity, and duration of rosacea, and the presence of and type of systemic comorbidities. METHODS: This retrospective multicenter study was conducted by the Turkish Society of Dermatology Acne Study Group. Thirteen dermatology clinics throughout Turkey participated in the study. A structured physician-administered questionnaire was used to collect patient demographics, clinical findings, and lifestyle data. The principal rosacea subtype, physician global assessment of severity, and duration of rosacea were recorded. Physicians recorded each participant's medical history, including current and past comorbidities, duration of any such comorbidity, and the use of medications to treat any comorbidities. RESULTS: The study included 1,195 rosacea patients and 621 controls without rosacea aged 18-85 years. As compared to the controls, more of the rosacea patients had respiratory tract, gastrointestinal system, and metabolic and hepatobiliary system disorders in a rosacea's severity- and duration-dependent manner. CONCLUSION: Clinicians must be aware of the potential for systemic comorbidities in rosacea patients, which becomes more likely as disease duration and severity increase.


Asunto(s)
Rosácea/epidemiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Comorbilidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Rosácea/diagnóstico , Índice de Severidad de la Enfermedad , Factores de Tiempo , Turquía/epidemiología , Adulto Joven
19.
J Dermatolog Treat ; 19(5): 313-5, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18608739

RESUMEN

A 43-year-old male attended with lesions on his face that had been present for 3 months. On dermatological examination, multiple papules and pustules were seen on the forehead, nose, bilateral cheeks and lower eyelids. The patient used systemic clindamycin and doxycycline and topical benzoyl peroxide therapies, but the lesions did not regress. Routine laboratory tests were normal. Histopathological examination of the lesions confirmed the diagnosis of granulomatous rosacea. Pimecrolimus cream 1% was applied to the lesions. The regression of lesions began in the first month and complete improvement was observed at the end of the fourth month of therapy. Rosacea is a chronic, inflammatory skin disorder characterized by remissions and relapses. Although it is known that the disease is a treatable disorder, it may be resistant to standard therapies and there is a need for new therapy alternatives in some patients. We present a case of granulomatous rosacea successfully treated with pimecrolimus cream and believe that pimecrolimus may be a good alternative for the treatment of granulomatous rosacea.


Asunto(s)
Fármacos Dermatológicos/uso terapéutico , Rosácea/tratamiento farmacológico , Tacrolimus/análogos & derivados , Adulto , Humanos , Masculino , Rosácea/patología , Tacrolimus/uso terapéutico
20.
Pediatr Dermatol ; 25(2): 277-8, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18429805

RESUMEN

This study documents the spectrum and frequency of skin disorders in a total of 2370 children encountered in a dermatology outpatient clinic in Turkey. Infectious skin diseases were most frequently observed (27.6%) followed by, eczemas (17.9%), acne (14,5%), papulosquamous diseases (6.9%), hair diseases (4.1%), pigmentation disorders (3.8%), generalized pruritus (2.8%), urticaria (2.7%), and insect bite (2.3%). Epidemiologic data are useful in planning of the health care and taking preventive measures to decrease the prevalence of skin disorders in children.


Asunto(s)
Servicio Ambulatorio en Hospital/estadística & datos numéricos , Enfermedades de la Piel/clasificación , Enfermedades de la Piel/epidemiología , Adolescente , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Turquía/epidemiología
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