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1.
Int Arch Allergy Immunol ; 184(5): 421-432, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36652936

RESUMO

INTRODUCTION: The use of predictors of response to a specific treatment in patients with chronic spontaneous urticaria (CSU) can improve disease management, help prevent unnecessary healthcare costs, and save time. In this study, we aimed to identify predictors of complete response to standard-dosed and higher than standard-dosed antihistamine treatments in patients with CSU. METHODS: Medical records of 475 CSU patients, 120 of them <18 years old, from 3 different centers were analyzed. We used 15 machine learning (ML) models as well as traditional statistical methods to predict complete response to standard-dosed and higher than standard-dosed antihistamine treatment based on 17 clinical parameters. RESULTS: CSU disease activity, which was assessed by urticaria activity score (UAS), was the only clinical parameter that predicted complete response to standard-dosed and higher than standard-dosed antihistamine treatment, with ML models and traditional statistics, for all age groups. Based on ROC analyses, optimal cut-off values of disease activity to predict complete response were UAS <3 and UAS <4 for standard-dosed (area under the ROC curve [AUC] = 0.69; p = 0.001) and higher than standard-dosed (AUC = 0.79; p = 0.001) antihistamine treatments, respectively. Also, ML models identified lower total IgE (<150 IU/mL) as a predictor of complete response to a standard-dosed antihistamine and lower CRP (<3.4 mg/mL) as a predictor of complete response to higher than standard-dose antihistamine treatment. DISCUSSION: In this study, we showed that patients with UAS <3 are highly likely to have complete response to standard-dosed AH and those with a UAS <4 are highly likely to have complete response to higher than standard-dosed AH treatment. Low CSU disease activity is the only universal predictor of complete response to AH treatment with both ML models and traditional statistics for all age groups.


Assuntos
Urticária Crônica , Urticária , Humanos , Adolescente , Doença Crônica , Urticária Crônica/tratamento farmacológico , Antagonistas dos Receptores Histamínicos/uso terapêutico , Antagonistas dos Receptores Histamínicos H1/efeitos adversos , Urticária/tratamento farmacológico , Omalizumab/uso terapêutico
2.
Turk J Med Sci ; 52(1): 58-66, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34365780

RESUMO

BACKGROUND: TPSORTAKSIS is a psoriasis registry, which is used for follow-up of patients in Kayseri City Education and Research Hospital, Dermatology Clinic since 2016 in Turkey. PSORTAKSIS includes demographic data, follow-up clinical findings, laboratory output, and treatment information of patients. Here, drug survivals of biologic therapeutics (BT) according to three-year data of PSORTAKSIS will be presented. METHODS: Drug survival of BT in PSORTAKSIS was analyzed from 2016 to March 2019. RESULTS: 158 patients (111 of them BT-naive) with psoriasis under BT were enrolled in the current study. Drug survival analysis of patients with ongoing BT (158 treatment periods) revealed mean survival time as 15.49 months for ustekinumab, 15.37 months for adalimumab, 14.00 months for etanercept, 5 months for infliximab, and 4.59 months for secukinumab. The differences between drug survivals of BT were statistically significant (log-rank test, χ2 = 79.915, p < 0.0001).


Assuntos
Terapia Biológica , Psoríase , Humanos , Psoríase/tratamento farmacológico , Sistema de Registros , Estudos Retrospectivos , Turquia , Ustekinumab/uso terapêutico
3.
Dermatol Ther ; 34(5): e15073, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34328650

RESUMO

Human papillomavirus infection is relatively common in communities. Thus, determining an effective and painless treatment method, especially in pediatric patients is of utmost importance. This study aimed to compare the outcomes of three different methods of treating plantar warts in pediatric patients. Children with verruca plantaris treated with a salicylic acid-lactic acid combination once daily (SA/LA 1), a salicylic acid-lactic acid combination applied in three to seven layers under occlusion every 3 days (SA/LA 2), or a combination of 5-fluorouracil (0.5%) and salicylic acid (10%) (SA/5-FU) were evaluated retrospectively. Treatment responses and recurrence rates were also evaluated after a minimum of 4 months. Among the 98 children with verruca plantaris, 19 were treated with SA/LA 1, 53 were treated with SA/LA 2, and 18 were treated with SA/5-FU; the eight patients who received cryotherapy were excluded. The mean treatment duration was significantly shorter in the SA/LA 2 group than in the SA/LA 1 group and the SA/5-FU group. (p = 0.000 for both) Application of a salicylic acid-lactic acid combination in multiple layers under occlusion is a safe, painless, and effective treatment method for plantar warts in children.


Assuntos
Verrugas , Criança , Crioterapia , Fluoruracila/efeitos adversos , Humanos , Estudos Retrospectivos , Ácido Salicílico/efeitos adversos , Resultado do Tratamento , Verrugas/diagnóstico , Verrugas/tratamento farmacológico
4.
Dermatol Ther ; 33(4): e13696, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32458546

RESUMO

COVID-19 is a highly contagious respiratory tract infection caused by severe acute respiratory syndrome coronavirus 2. COVID-19 outbreak, which caused thousands of deaths, has been declared a pandemic by the World Health Organization in March 2020. The infection has been reported to demonstrate different types of cutaneous manifestations including urticarial, maculopapular, papulovesicular, purpuric, livedoid, and thrombotic-ischemic lesions. Given the high mortality rate of the infection, timely and accurate identification of relevant cutaneous manifestations may play a key role in the early diagnosis and management. In this study, we provide a review with a focus on the reported cutaneous manifestations of COVID-19.


Assuntos
Infecções por Coronavirus/complicações , Pneumonia Viral/complicações , Dermatopatias/virologia , Betacoronavirus , COVID-19 , Diagnóstico Diferencial , Humanos , Pandemias , SARS-CoV-2
5.
Dermatol Ther ; 33(6): e13858, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32686245

RESUMO

Coronavirus disease (COVID-19) is a highly contagious respiratory infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). COVID-19 outbreak has been declared a pandemic by the World Health Organization on March 2020. The pandemic has affected the management of psoriasis not only for those who are under treatment but also for those who are about to begin a new therapy to control their disease. An increasing number of studies in the current literature have focused on the relationship between psoriasis and COVID-19 from different perspectives. This narrative review includes searching the PubMed and Web of Science databases using the keywords "psoriasis," "psoriatic arthritis," "coronavirus," "COVID-19," and "SARS-CoV-2." The search was supplemented by manual searching of reference lists of included articles. A total of 11 relevant original investigations and 6 case studies was identified. The search was updated in May 2019. Due to the absence of randomized controlled trials, it is not likely to have a robust evidence-based approach to psoriasis management in the era of COVID-19. However, the current literature may provide some clues for safety considerations. Conventional immunosuppressive therapies such as methotrexate and cyclosporine, and anti-tumor necrosis factor agents should not be preferred due to increased risk of infection, especially in high-risk areas. The use of cyclosporine may pose additional risk due to the side effect of hypertension, which has been reported to be associated with susceptibility to severe COVID-19. Considering that the current literature has provided no conclusive evidence that biologics increase the risk of COVID-19, withdrawal of these agents should be reserved for patients with COVID-19 symptoms. The treatment approach should be personalized, considering the advantages and disadvantages for each case separately.


Assuntos
COVID-19 , Imunossupressores/administração & dosagem , Psoríase/tratamento farmacológico , Produtos Biológicos/administração & dosagem , Produtos Biológicos/efeitos adversos , Fármacos Dermatológicos/administração & dosagem , Fármacos Dermatológicos/efeitos adversos , Humanos , Hipertensão/induzido quimicamente , Hipertensão/complicações , Imunossupressores/efeitos adversos , Fatores de Risco
6.
Dermatol Ther ; 32(3): e12916, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30972872

RESUMO

Etiology of psoriasis is unclear but environmental, genetic, and immune factors act significant roles in the pathogenesis of this disease. Helper T cells (TH), plasmoid, and dermal dendritic cells play a prominent role in the development of classical psoriatic lesions. Interleukin stimulation is another important process in the pathogenesis of the disease that directly influences keratinocytes and leading to the formation of psoriatic pattern in the skin. Tumor necrosis factor (TNF) α which releases from keratinocytes activates dendritic cells in the early stages of complex pathogenesis of psoriasis. Activated keratinocytes also produce other proinflammatory cytokines (IL-1b and IL-6), antimicrobial peptides, and various chemokines. TNF activates dendritic cells that produce IL-23, leading to TH17 differentiation. TH17 cells secrete IL-17A, which has been shown to promote psoriatic skin changes. Consequently, after clarification of these main pathological mechanisms, anti-IL therapies have been accepted as a major treatment for patients with moderate-to-severe psoriasis. Here, actual information will be presented about biological agents currently in clinical use or being tested for clinical application for treatment of patients with psoriasis.


Assuntos
Produtos Biológicos/uso terapêutico , Psoríase/tratamento farmacológico , Artrite Psoriásica/tratamento farmacológico , Humanos , Psoríase/etiologia , Receptores de Interleucina-17/antagonistas & inibidores , Fator de Necrose Tumoral alfa/antagonistas & inibidores
7.
J Cosmet Laser Ther ; 21(3): 123-126, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-29883220

RESUMO

BACKGROUND: Recently, treatment with acaricides, which is aimed at reducing excessive proliferation of demodex mites, has gained popularity due to its providing a significant improvement in the symptoms of diseases, such as rosacea, seborrhoeic dermatitis, and perioral dermatitis. The effect of IPL on demodex mites was reported in skin biopsy specimens in three patients; however, to the best of our knowledge, no study exists to date, which evaluates the effect of pulsed dye laser (PDL) on demodex density (Dd) in larger patient group. We aim here in to observe the Dd before and after PDL therapy with two different skin biopsy techniques. MATERIAL AND METHODS: Thirty-one patients diagnosed with rosacea were included in the study who received PDL treatment. Dds which were measured by using both the SSSB (standardized skin surface biopsy) and CTM (cellophane tape method) techniques before and after 3 weeks of PDL therapy were evaluated. RESULTS AND DISCUSSION: The Dd of patients before PDL treatment was 13.0 (interquartile range (IQR): 5.0-28.0) and after 3 weeks of PDL treatment it was 6.0 (IQR: 3.0-12.0) with SSSB. After PDL treatment, the Dd was significantly lower than pretreatment the Dd (p = 0.002). The present study shows that PDL significantly reduced Dd in facial skin with one session.


Assuntos
Dermatoses Faciais/cirurgia , Lasers de Corante/uso terapêutico , Ácaros/efeitos da radiação , Rosácea/cirurgia , Adulto , Animais , Biópsia/métodos , Face/patologia , Dermatoses Faciais/patologia , Feminino , Seguimentos , Humanos , Lasers de Corante/efeitos adversos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Rosácea/patologia , Pele/patologia , Estatísticas não Paramétricas , Resultado do Tratamento
8.
Postepy Dermatol Alergol ; 36(1): 92-97, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30858786

RESUMO

INTRODUCTION: It is known that serum dehydroepiandrosterone sulphate (DHEA-S) levels are low in patients with chronic idiopathic urticaria. AIM: In the study, the effect of the drug on the DHEA-S serum levels and its correlation with the remission and relapse times of the disease was investigated. MATERIAL AND METHODS: Fifty-seven patients with chronic idiopathic urticaria who were referred to our hospital and 20 healthy volunteers were included in the study. A subcutaneous injection of 300 mg omalizumab was administered to the patient group. Drug injections at this dose were completed (6 injections in total, one per month). Relations between serum DHEA-S levels and relapse rates, treatment response and remission duration of the patients and control group were investigated in the groups. RESULTS: Median DHEA-S value before treatment was 116.3 (21.5-448.7) µg/dl; the median DHEA-S value measured after 3 months was 98.4 (10.0-410.0) µg/dl (p = 0.003). The median DHEA-S value before treatment was 123.1 (21.5-299.6) µg/dl when the initial and 3-month DHEA-S levels of the 34 complete remission patients were compared; after 3 months the value was 100.4 (23.1-301.9) µg/dl (p = 0.021). CONCLUSIONS: This is the first study to investigate the effect of omalizumab treatment on DHEA-S levels in the treatment of chronic urticaria according to our literature review. The DHEA-S levels were found to be significantly lower after omalizumab therapy but not related to remission and relapse times.

9.
Turk J Med Sci ; 48(6): 1255-1262, 2018 Dec 12.
Artigo em Inglês | MEDLINE | ID: mdl-30541255

RESUMO

Background/aim: Spontaneous wheals and/or angioedema lasting longer than six weeks are described as chronic spontaneous urticaria (CSU). Omalizumab is used for the treatment of antihistamine-resistant CSU. The neutrophil­lymphocyte ratio (NLR), platelet­ lymphocyte ratio (PLR), mean platelet volume (MPV), and platelet distribution width (PDW) are considered important indicators of inflammation and platelet activation in chronic diseases. We aimed to determine the NLR, PLR, MPV, and PDW levels in patients with CSU compared with healthy controls. We also aimed to investigate the effects of omalizumab therapy on these parameters in CSU patients. Materials and methods: This hospital-based, retrospective study included 143 patients with CSU and 132 healthy controls with a mean age of 40.0 ± 13.17 and 42.0 ± 16.34, respectively. Patients with equal or higher-than-baseline UAS scores at week 12 of omalizumab treatment were considered nonresponders, others were considered responders. We analyzed the neutrophils, lymphocytes, platelet counts, NLR, PLR, MPV, and PDW before, during, and after omalizumab treatment and compared the results with those of healthy controls. Results: CSU patients presented higher baseline MPV (P = 0.035) and lower baseline PDW values (P < 0.001) than healthy controls. There were statistically significant increases in the MPV (P < 0.001), MPV/platelet count (P = 0.005), and PDW (P = 0.003) and there was a statistically significant decrease in the NLR (P = 0.018) during omalizumab treatment. The percent increase of MPV was low in nonresponders (P = 0.009). Nonresponders had lower PDW values than responders (P = 0.040). Conclusion: The increase in the MPV and PDW may be due to platelet activation during omalizumab treatment. The decrease in the NLR may be regarded as an antiinflammatory effect of omalizumab. The effect of omalizumab on platelet and inflammatory markers may be used to discriminate the responders from nonresponders.

14.
Med Sci Monit ; 21: 2100-4, 2015 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-26190279

RESUMO

BACKGROUND: Cutaneous leishmaniasis (CL) is a vector-mediated skin disease, characterized by chronic wounds on the skin and caused by macrophages in protozoan parasites. It is an endemic disease in the southern and southeastern Anatolia region and is still an important public health problem in Turkey. Because of the civil war in Syria, immigrants to this region in the last 3 years have begun to more frequently present with this disease. The aim of this study was to draw attention to the dramatic increase in new cases with CL after the beginning of the civil war in Syria. MATERIAL AND METHODS: In this retrospective study, we evaluated demographic, epidemiological, and clinical features of 110 patients diagnosed with cutaneous leishmaniasis who were admitted to the Department of Dermatology at Kahramanmaras Sutcu Imam University Faculty of Medicine between January 2011 and June 2014. RESULTS: A total of 110 patients included in the study; 50 (45%) were males, and 60 (55%) were females. The age range of the study group was 1-78 years, and the infection was more prevalent in the 0-20 year age group. Of these patients, 76 (69%) were Syrian refugees living in tent camps and 34 (31%) were Turkish citizens. The majority of the cases were diagnosed between October and December. CONCLUSIONS: Immigrations to endemic regions of Turkey from neighbouring countries where CL incidence is higher may lead to large increases in case numbers. In order to decrease the risk of exposure, housing conditions of the refugees must be improved, routine health controls must be performed, effective measures must be set in place for vector control, and infected individuals must be diagnosed and treated to prevent spread of the infection.


Assuntos
Leishmaniose Cutânea/epidemiologia , Adolescente , Adulto , Idoso , Conflitos Armados/estatística & dados numéricos , Criança , Pré-Escolar , Violência Étnica/estatística & dados numéricos , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Refugiados/estatística & dados numéricos , Estudos Retrospectivos , Síria/epidemiologia , Turquia/epidemiologia
15.
J Oral Pathol Med ; 43(9): 691-5, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24801453

RESUMO

BACKGROUND: All aspects of aetiopathogenesis of recurrent aphthous stomatitis (RAS) have not been elucidated. RAS and Behçet's disease (BD) have clinical and immunological characteristics in common. Although T17 cytokines and alpha-enolase have been shown to play effective roles in BD and many other autoinflammatory diseases recently, their roles in RAS have not been studied extensively. In the present study, we investigated levels of several Th1, Th2 and Th17 pathways related cytokines and alpha-enolase to elucidate pathogenesis of RAS and to obtain data about possible treatment alternatives for the condition. METHODS: Serum interleukin-1, interleukin-13, interleukin-17, interleukin-18, interferon gamma and alpha-enolase levels in 24 patients with RAS, 30 patients with BD and 20 healthy controls were measured. RESULTS: Serum interleukin-1, interleukin-13, interleukin-17, interleukin-18, interferon gamma and alpha-enolase levels were higher in patients with RAS and patients with BD than in healthy controls (P < 0.005). CONCLUSION: Like Th1 and Th2 cells, Th17 cells were found to be effective in pathogenesis of RAS. In addition, alpha-enolase, the levels of which were high, may play an important role in etio-pathogenesis of RAS. Further studies to be designed in the light of these findings are required to shed light on pathogenesis and treatment of the condition.


Assuntos
Interleucinas/sangue , Fosfopiruvato Hidratase/sangue , Estomatite Aftosa/sangue , Células Th1/imunologia , Células Th17/imunologia , Células Th2/imunologia , Adulto , Síndrome de Behçet/sangue , Síndrome de Behçet/imunologia , Feminino , Humanos , Interferon gama/sangue , Interleucina-1/sangue , Interleucina-13/sangue , Interleucina-17/sangue , Interleucina-18/sangue , Masculino , Pessoa de Meia-Idade , Recidiva , Estomatite Aftosa/imunologia , Adulto Jovem
17.
Arch Dermatol Res ; 315(7): 2099-2105, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36947195

RESUMO

Demodex, a type of mite, lives in human hair follicles. They can multiply very quickly in some conditions and then start to irritate the skin by causing skin disorders. This study aims to investigate if working environment conditions affect the prevalence of Demodex. A cross-sectional, multicenter study was conducted with three different occupational groups: mine, textile and food factory workers (n = 102). Determined industry workers who applied to our outpatient dermatology clinics with the complaint of dermatosis in three different cities were included in the study. Demodex positivity was checked by dermoscopy. Differences between categorical variables examined with Chi-square analysis and T test was used to compare continuous variables between groups. 50% Demodex positivity was found in mine workers, 45.3% in food factory workers and 66.7% in textile manufacturing workers. A high rate of Demodex positivity was observed in all three occupational groups. Although the highest positivity rate was observed in textile manufacturing workers, no significant difference was found between the groups (p = 0.320). The overall prevalence of Demodex in female workers was statistically significantly higher than in male workers (p = 0.029). Exposure of workers to a wide variety of factors in work environments such as textile factories and the fact that women are more sensitive to external factors may have caused the prevalence of Demodex to be higher in these groups. So, a change in the work environment or the use of suitable protective equipment may benefit the treatment of diseases caused by Demodex. But, further studies are needed with larger and various industry groups to make more certain views.


Assuntos
Infestações por Ácaros , Ácaros , Doenças Profissionais , Dermatopatias , Humanos , Masculino , Feminino , Adulto , Dermatopatias/epidemiologia , Dermatopatias/etiologia , Doenças Profissionais/epidemiologia , Indústria Têxtil , Indústria Alimentícia , Mineradores , Prevalência , Infestações por Ácaros/epidemiologia
18.
ScientificWorldJournal ; 2012: 197139, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23028248

RESUMO

Recent published studies evaluating the long-pulsed 1064 nm Nd:YAG laser for superficial cutaneous vascular lesions have limited subjects and optimal treatment parameters have not been established. To determine the efficacy and safety of the long-pulsed 1064 nm Nd:YAG laser on superficial cutaneus vascular lesions and analyse retrospectively our experience of a 3-year period are the aims of this study. Over the 3-year period, 255 patients were treated [189 female and 66 male; median age 35 (range 7-65) years; Fitzpatrick skin types II-V]. Twenty-six patients with spider angioma, 130 with facial telangiectasia, and 99 with leg telangiectasia were treated. A long-pulsed 1064 nm Nd:YAG laser was used. A test dose was performed at the initial consultation and thereafter patients were reviewed and treated at 4-week intervals for 5 months. Of those patients who completed treatment and followup, 26/26 (100%) of spider angiomas, 125/130 (97%) of facial telangiectasia, and 80/99 (80,8%) of leg telangiectasia markedly improved or cleared. We suggest that the long pulsed Nd:YAG laser is a safe and effective treatment for common superficial cutaneous vascular lesions. However, it is not the first choise to use to treat superficial vessels on the face where depth is not the concern.


Assuntos
Terapia a Laser/métodos , Lasers de Estado Sólido/uso terapêutico , Dermatopatias Vasculares/radioterapia , Telangiectasia/radioterapia , Adolescente , Adulto , Idoso , Criança , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Dor/patologia , Estudos Retrospectivos , Dermatopatias Vasculares/patologia , Telangiectasia/patologia , Resultado do Tratamento , Adulto Jovem
19.
Front Immunol ; 12: 722406, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34804011

RESUMO

Introduction: The COVID-19 pandemic dramatically disrupts health care for patients with chronic diseases including chronic spontaneous urticaria (CSU). As of now, it is unknown if the effects of the pandemic in CSU are different than in other chronic diseases. We also do not know, if different groups of CSU patients, for example female and male patients, are affected differently. Aim: To understand how CSU patients and subgroups are affected by the COVID-19 pandemic in their disease activity and control and treatment, using psoriasis as control. Patients and Methods: We analyzed 399 patients (450 visits) with CSU or psoriasis assessed during August 2019, i.e. before the pandemic, or August 2020, i.e. during the pandemic, for changes in disease activity, disease control, and the treatment they used, and how these changes are linked to age, gender, and disease duration. Results: Male but not female patients with CSU had markedly increased disease activity during the pandemic. CSU patients' age or disease duration were not linked to changes. Male and female patients with psoriasis showed similar increases in disease activity and decreases in disease control. The rate of omalizumab treatment, during the pandemic, was unchanged in male patients and increased in female patients with CSU. The efficacy of omalizumab treatment, during the pandemic, was reduced in male patients but not female patients with CSU. Conclusion: Male but not female CSU patients, during the COVID-19 pandemic, show loss of disease control linked to loss of omalizumab efficacy. The reasons for this need to be investigated.


Assuntos
Urticária Crônica/tratamento farmacológico , Adulto , Antialérgicos/uso terapêutico , COVID-19/epidemiologia , Feminino , Humanos , Masculino , Omalizumab/uso terapêutico , Pandemias/prevenção & controle , Resultado do Tratamento
20.
Turk J Pediatr ; 61(4): 604-607, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31990481

RESUMO

Özyurt K, Atasoy M, Ertas R, Ulas Y, Akkus MR, Kiraz A, Hennies HC. Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C. Turk J Pediatr 2019; 61: 604-607. Netherton syndrome (NS, MIM256500) is an autosomal recessive disorder that includes ichthyosis linearis circumflexa and a predisposition to allergies, asthma, and eczema, with hypereosinophilia, trichorrhexis invaginata, and elevated serum IgE levels. The genetic bases of Netherton syndrome are mutations in the gene SPINK5, and the Lymphoepitheial Kazal type related inhibitor, a serine protease inhibitor, is encoded by SPINK. Here a case is presented which showed a probable splice site mutation in SPINK5, which was previously unknown in databases and the literature, to point out the misdiagnosis of Hyper IgE Syndrome in the early presentation of the phenotype. This case highlights that a genetic test can be critical for identifying NS. The finding of underlying mutations contributes to the understanding of Netherton syndrome and is instrumental in indicating a specific therapy. Notably, treatment with acitretin has significantly improved both the ichthyosis linearis circumflexa and eczema in our patient.


Assuntos
DNA/genética , Síndrome de Job/diagnóstico , Mutação , Síndrome de Netherton/diagnóstico , Inibidor de Serinopeptidase do Tipo Kazal 5/genética , Pré-Escolar , Análise Mutacional de DNA , Diagnóstico Diferencial , Erros de Diagnóstico , Genótipo , Humanos , Masculino , Síndrome de Netherton/genética , Síndrome de Netherton/metabolismo , Fenótipo , Inibidor de Serinopeptidase do Tipo Kazal 5/metabolismo
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