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1.
Clin Cosmet Investig Dermatol ; 17: 339-347, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38327549

RESUMO

Background and Aim: There is a dearth of scholarly investigation pertaining to the effectiveness and safety of laser therapy for nevus of Ota manifestation in infants. The objective of this study is to examine the efficacy and safety of administering laser therapy at an early stage to treat nevus of Ota in infants. Methods: A total of 102 infants below the age of one who had nevus of Ota were treated at the Laser Center at Hangzhou Third People's Hospital. The treatment approach involved a combination of the Q-switched laser (with a wavelength of 755 nm) and the Q-switched laser (with a wavelength of 1064 nm). The treatment sessions were conducted at six-month intervals. Prior to and after each session, photographs and relevant parameters were documented, including any skin reactions. Subsequent follow-up was conducted through phone calls, WeChat, and text messages, and the parents/guardians of the infants completed a general questionnaire as well as Conner's Abbreviated Symptom Questionnaire. Results: Laser therapy exhibited significant efficacy in the treatment of nevus of Ota in infants. Success rates reached 88.7% after four sessions and 99.3% after seven sessions. No instances of serious adverse reactions, except for pain, were reported. Among the 47 infants subject to follow-up, 14 experienced a recurrence, resulting in a recurrence rate of 29.8%. Factors contributing to these recurrences included lesion size, subtypes, exposure to the sun, and location. Subsequent laser treatments, typically involving two to three additional sessions, proved effective in mitigating recurrences. Notably, none of the infants exhibited any signs of fear, anxiety, or other psychological abnormalities following laser therapy, and the overall satisfaction rate was markedly high. Conclusion: Commencing laser therapy promptly for nevus of Ota in infants is recommended. This early intervention significantly contributes to the overall well-being of infants, addressing both physical and psychological aspects.

4.
Clin Cosmet Investig Dermatol ; 16: 1945-1948, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37519939

RESUMO

Graft versus host disease (GVHD) is a complex immune-mediated pathophysiological process, which is caused by allogenic immune reactions between donors and recipients. No matter ac-ute or chronic GVHD, skin involvement is the most common, severe skin damage can lead to permanent disfigurement, which seriously affects the long-term quality of life of patients. We herein report a patient with generalized vitiligo after allogeneic peripheral hematopoietic stem cell transplantation (allo-HSCT) for aplastic anemia.

5.
Dermatol Surg ; 48(12): 1294-1298, 2022 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-36449870

RESUMO

BACKGROUND: Mandibular keloids and hypertrophic scars can exert significant effects on the appearance of a patient. However, current treatments are not effective in all cases. Consequently, it is vital to identify a safe and effective treatment method. OBJECTIVE: To investigate the therapeutic effect of the mini-punch technique combined with photodynamic therapy (PDT) on mandibular keloids and hypertrophic scars. PATIENTS AND METHODS: Twenty patients with mandibular keloids and hypertrophic scars were enrolled, including 5 cases of keloids and 15 cases of hypertrophic scars, with a total of 40 lesions. The mini-punch technique was performed first, and then, PDT was conducted, once a week on 3 occasions in total. RESULTS: After 12 months of follow-up, 30 lesions had improved by more than 50%, thus achieving a good therapeutic effect. The Vancouver Scar Scale score of patients ranged between 8 and 12 points with a mean of 9.60 ± 1.09 points before surgery and between 2 and 9 points with a mean of 4.15 ± 2.05 points at 12 months after surgery. The mean Vancouver Scar Scale score after treatment was significantly lower than that before treatment (t = 11.80, p < .001). CONCLUSION: A combination of the mini-punch technique and PDT is an effective treatment for mandibular keloids and hypertrophic scars.


Assuntos
Cicatriz Hipertrófica , Queloide , Fotoquimioterapia , Humanos , Queloide/tratamento farmacológico , Cicatriz Hipertrófica/tratamento farmacológico
6.
Photobiomodul Photomed Laser Surg ; 40(5): 362-364, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35559713

RESUMO

Background: Phototherapy is one of the treatments for vitiligo. To be specific, the combination of narrowband ultraviolet B (NB-UVB) with topical preparations has currently become the most common therapeutic modality. Moreover, the research on new topical drug has been a hot issue in the field of vitiligo. Objective: At present, simvastatin has been considered as a potential therapeutic agent for the treatment of vitiligo. To the best of our knowledge, this is the first case report concerning the successful application of NB-UVB combined with topical simvastatin in the treatment of vitiligo. Methods: In this article, a clinical case report was presented, where the patient was not responsive to NB-UVB but was markedly responsive to the treatment of UVB combined with topical simvastatin. Results: A 34-year-old Chinese female patient with vitiligo was cured by NB-UVB combined with topical simvastatin solution. Conclusions: NB-UVB combined with topical simvastatin may be a potential treatment against vitiligo. This research was approved by the Medical Ethics Committee of Third People's Hospital of Hangzhou.


Assuntos
Terapia Ultravioleta , Vitiligo , Adulto , Terapia Combinada , Feminino , Humanos , Sinvastatina/uso terapêutico , Resultado do Tratamento , Vitiligo/tratamento farmacológico
8.
Photodermatol Photoimmunol Photomed ; 38(1): 76-82, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34265118

RESUMO

BACKGROUND: Vitiligo represents a commonly diagnosed autoimmune disease caused by the depletion of epidermal melanocytes. Many subsets of T cells contribute to vitiligo pathogenesis, including resident and circulating memory T cells. OBJECTIVES: To analyze the amounts of CD4+ and CD8+ memory T-cell subsets in peripheral blood specimens from vitiligo patients and alterations caused by narrowband ultraviolet B (NB-UVB) phototherapy. METHODS: Circulating CD4+ and CD8+ central memory T (TCM ) and effector memory T (TEM ) cell frequencies in 33 patients with non-segmental vitiligo and 16 healthy donors were evaluated by flow cytometry. Related chemokine levels were also detected. RESULTS: Peripheral blood CD4+ TCM and CD8+ TCM counts were markedly reduced in vitiligo cases while they were higher in active vitiligo compared with stable vitiligo cases. Circulating CD8+ TCM frequency in vitiligo was closely related to disease duration. Interestingly, CD4+ TCM and CD8+ TCM frequencies, alongside CXCL9 and CXCL10 amounts in peripheral blood of patients with vitiligo, were significantly decreased after NB-UVB phototherapy. CONCLUSIONS: Decreased frequencies of circulating CD4+ TCM and CD8+ TCM by NB-UVB suggest a possible immunosuppressive effect of phototherapy. The chemokines CXCL9 and CXCL10 are the bridge between circulating and skin resident memory T cells. NB-UVB blocks the homing of circulating memory T cells into vitiligo lesions by down-regulating CXCL9 and CXCL10. Targeting the above proteins could provide novel, durable treatment options to cure and prevent flares of this disease.


Assuntos
Terapia Ultravioleta , Vitiligo , Humanos , Melanócitos , Células T de Memória , Pigmentação da Pele , Resultado do Tratamento , Vitiligo/radioterapia
9.
Skin Res Technol ; 27(2): 272-276, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33174647

RESUMO

BACKGROUND: In clinical, common facial papule dermatosis such as seborrheic keratosis (SK), verruca plana (VP), syringoma and lichen nitidus (LN) is often misdiagnosed. Summarizing in vivo reflectance confocal microscopy (RCM) features of the facial papule dermatosis is helpful in the diagnosis of ambiguous lesions. The purpose of this study was to evaluate the features of SK, VP, syringoma, and LN in RCM. METHODS: We recruited 144 patients referred for unequivocal facial papule dermatosis including 60 patients with SK, 60 patients with VP, 10 patients with syringoma, and 14 patients with LN. The RCM images were evaluated at the epidermis, the dermoepidermal junction, and the dermis from both papule lesions and normal skin. RESULTS: In the epidermis, the cerebriform shape was the main RCM characteristic of SK and the "petal-like" structure was the main RCM characteristic of VP. In the dermoepidermal junction, the RCM features we found were as follows: For SK, the bright dermal papillary rings, the abnormal dermal papilla and the looped vessels were also observed at the abnormal dermal papilla. For VP, the bright dermal papillary rings and the point-like blood vessels were also observed at the round dermal papills. For LN, the round, enlarged, well-circumscribed dermal papillae and the enlarged dermal papillaes were heavily laden with individual highly refractive cells. In the dermis, RCM examination revealed brightly refractile teratogenous sweat tube, designing variably visible bright "moon" structures in all syringoma patients. CONCLUSION: Considering our results, RCM may be useful to non-invasively discriminate SK, VP, syringoma and LN in vivo.


Assuntos
Ceratose Seborreica , Líquen Nítido , Neoplasias Cutâneas , Neoplasias das Glândulas Sudoríparas , Siringoma , Verrugas , Humanos , Ceratose Seborreica/diagnóstico por imagem , Microscopia Confocal , Neoplasias das Glândulas Sudoríparas/diagnóstico por imagem , Verrugas/diagnóstico por imagem
10.
Skin Res Technol ; 26(4): 591-598, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31950528

RESUMO

INTRODUCTION: Reflectance confocal microscopy (RCM), a noninvasive, real-time technique of computed tomography, has been widely used for pigmentary, inflammatory, and tumor diseases of the skin. AIM: Our main purpose was to analyze the consistency between pathological and RCM characteristics of early-stage mycosis fungoides (MF) and the utility of RCM in the diagnosis of early-stage MF. METHODS: According to the RCM features of MF in the early stage, the biopsy sites of 40 cases of suspected MF and 20 cases of chronic inflammatory skin diseases clinically were preliminarily located. Histopathologic and immunohistochemical examinations were performed to make a diagnosis based on the diagnostic algorithm proposed by the International Society for Cutaneous Lymphomas. RESULTS: Among the 60 patients observed, there were 12 confirming cases of MF, 14 suspecting cases, 6 not completely excluding cases, and 28 eliminating cases according to the diagnostic algorithm, as well as characteristics of RCM were typical in 8 cases, suspected in 16 cases, not excluded in 3 cases, and excluded in 33 cases. The kappa value was 0.769 (P < .01), which means there is a strong consistency between the classification by RCM and the diagnosis algorithm. MF in patch stage and plaque stage (IA to IIB) has typical characteristics of RCM, respectively. CONCLUSIONS: RCM can be used as an objective and convenient auxiliary means to diagnose early-stage MF and may be included as part of the diagnostic algorithm of early-stage MF.


Assuntos
Micose Fungoide , Neoplasias Cutâneas , Algoritmos , Humanos , Microscopia Confocal , Micose Fungoide/diagnóstico por imagem , Micose Fungoide/patologia , Estadiamento de Neoplasias , Pele/diagnóstico por imagem , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/patologia
11.
J Dermatol ; 45(1): 31-38, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29115683

RESUMO

To determine the levels and sources of chemokines in the serum and epidermis of vitiligo patients, we examined 80 active patients, 80 stable patients and 40 healthy controls. First, the serum levels of candidate chemokines were measured by Luminex assay, and levels of CCR5, CXCR1 and CXCR3 were measured in peripheral mononuclear cells (PMBC) by flow cytometry. Then, the local epidermis levels of elevated chemokines in vitiligo were tested by Luminex. Finally, the mRNA and protein expression levels of elevated chemokines in HaCaT cells stimulated with interferon (IFN)-γ or tumor necrosis factor (TNF)-α were tested by quantitative real-time polymerase chain reaction and Luminex. The serum levels of CCL5, CXCL8 and CXCL10 in active vitiligo were significantly elevated compared with those in stable vitiligo patients. Furthermore, the levels of CCL3 and CCL4 had weak and positive correlations with the Vitiligo Area Scoring Index. In the peripheral blood of active vitiligo patients, the percentages of CD3+ CD8+ CCR5+ and CD3+ CD8+ CXCR3+ T cells were significantly increased compared with those in stable vitiligo and healthy controls. In the epidermis of lesions, the expression levels of CCL5 and CXCL10 in active vitiligo were significantly increased. In addition, the mRNA and protein levels of CCL5, CXCL8 and CXCL10 were significantly elevated in HaCaT cells after stimulation with TNF-α or IFN-γ. The CCR5/CCL5 and CXCR3/CXCL10 axes may play an important role in the progression and maintenance of vitiligo. Moreover, keratinocytes stimulated with TNF-α and IFN-γ may be a primary source of CCL5 and CXCL10.


Assuntos
Quimiocina CCL5/sangue , Quimiocina CXCL10/sangue , Interleucina-8/sangue , Vitiligo/sangue , Adolescente , Adulto , Idoso , Linfócitos T CD8-Positivos/metabolismo , Estudos de Casos e Controles , Linhagem Celular , Criança , Pré-Escolar , Epiderme/metabolismo , Feminino , Humanos , Interferon gama , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Fator de Necrose Tumoral alfa , Adulto Jovem
12.
Dermatol Ther ; 30(3)2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28261900

RESUMO

Axillary bromhidrosis has a strong negative effect on one's social life. A high success rate and few complications are criteria for a surgical treatment. The objective of this study was to evaluate a new surgical treatment modality for bromhidrosis: subcutaneous scissor with micropore. Twenty patients with bromhidrosis were treated. Patients were placed in a supine position with their treated arms abducted to 110°. After injection of 60 mL of tumescent solution into each axilla, one small incision was made at the middle axillary of the hair-bearing area. The whole hair-bearing skin was undermined at the level of the superficial fat to obtain adequate skin eversion. The flaps were everted to offer full exposure of the apocrine glands, and meticulous excision of each gland was performed. Both sides were punctured with scalpel. The micropore was used for drainage, and whose width was just 3 mm. Finally, the incisions were re-approximated, and bulky compressive dressings were applied to the area for 72 hours. Of the 40 axillae (20 patients), 34 (85.0%) showed excellent results, and six (15.0%) had good results. Malodor was significantly decreased. There were no serious complications. This technique can produce excellent results with a lower complication rate than most other surgical modalities and can be performed without costly equipment.


Assuntos
Glândulas Apócrinas/cirurgia , Axila/cirurgia , Hiperidrose/cirurgia , Odorantes/prevenção & controle , Feminino , Seguimentos , Humanos , Masculino , Complicações Pós-Operatórias/epidemiologia , Retalhos Cirúrgicos , Procedimentos Cirúrgicos Operatórios/métodos , Resultado do Tratamento , Adulto Jovem
13.
Indian J Dermatol ; 60(5): 470-2, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26538694

RESUMO

The treatment of vitiligo is derisory since the pathogenesis of vitiligo is not clear at present. Most conservative treatments are difficult to approach satisfactory therapy. So transplantation is the only way left when the disease becomes insensitive to those conservative treatments. Here we describe an 18-year-old patient who developed vitiligo, which was triggered by graft-versus-host disease after a allogeneic bone marrow transplantation for the treatment of Hodgkin's lymphoma from his sister. In the following treatment to vitiligo, the patient successfully performed the transplantation of autologous uncultured melanocyte on the premise of poor reaction to other conservative methods. We infer that transplantation can be a treatment of the vitiligo after allogeneic bone marrow transplantation.

14.
Zhonghua Nan Ke Xue ; 21(8): 708-12, 2015 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-26442297

RESUMO

OBJECTIVE: To explore the correlation of the gene polymorphisms of Toll-like receptor 2 ( TLR2) and TLR4 with the susceptibility and recurrence of condyloma acuminatum (CA). METHODS: Using Snapshot, we detected the gene polymorphisms of TLR2 597(T/C), 1350(T/C), 15607(A/G), and 2258(G/A) and TLR4 896(A/G) and 1196(C/T) in the peripheral blood of 140 CA patients and 105 HPV-negative controls. We made comparisons between the CA patients and controls as well as between the cases of recurrent CA and those of non-recurrence at 6 months after treatment. RESULTS: There were 72, 48, and 20 cases of genotype TT, TC, and CC of TLR2 597 (T/C), respectively, in the CA patients, as compared with 71, 31, and 3 cases in the controls. The gene frequency of mutant C was 31. 43% in the patients, significantly higher than 17.62% in the controls (χ2 = 12.04, P < 0.01), and it was 38.68% in the recurrent cases, remarkably higher than 27.01% in the non-recurrent cases (χ2 = 4.16, P < 0.05). There were 74, 49, and 17 cases of genotype TT, TC, and CC of TLR2 1350( T/C), respectively, in the CA patients, as compared with 73, 29, and 3 cases in the controls. The gene frequency of mutant C was 29. 64% in the patients, significantly higher than 16. 67% in the controls (χ2 =11.05, P < 0.01), and it was 36.79% in the recurrent cases, markedly higher than 25. 29% in the non-recurrent cases (χ2 = 4.18, P < 0.05). There were 44, 66, and 30 cases of genotype AA, AG, and GG of TLR2 15607(A/G), respectively, in the CA patients, as compared with 26, 58, and 21 cases in the controls. There was no significant difference in the gene frequencies of mutant G between the two groups (χ2 = 0.33, P > 0.05). No mutant genes of TLR2 2508 (G/A) or TLR4 896(A/G) and 1196(C/ T) were detected in either the CA patients or the controls. Linkage disequilibrium analysis showed a tight linkage between TLR2 597 (T/C) and 1350(T/C) (D' = 1, r2 = 0.93). CONCLUSION: TLR2 597(T/C) is tightly linked to 1350(T/C), which is correlated with both the susceptibility and the recurrence of condyloma acuminatum.


Assuntos
Condiloma Acuminado/genética , Frequência do Gene , Polimorfismo Genético , Receptor 2 Toll-Like/genética , Receptor 4 Toll-Like/genética , Idoso , Estudos de Casos e Controles , Ligação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Recidiva
15.
Dermatol Surg ; 40(4): 420-6, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24446755

RESUMO

BACKGROUND: Vitiligo is an acquired skin disorder with great social impact. It can be successfully treated using cultured autologous melanocytes transplantation. OBJECTIVE: To evaluate the effect of different modalities of narrow-band ultraviolet B (NB-UVB) therapy on the outcome of cultured autologous melanocyte transplantation in treating vitiligo. METHODS: Patients undergoing cultured autologous melanocyte transplantation were randomly assigned to four different study groups. Group 1 underwent 20 sessions of NB-UVB treatment before transplantation; Group 2 underwent 30 sessions of NB-UVB treatment after transplantation; Group 3 underwent 20 sessions of NB-UVB treatment before transplantation and 30 sessions after transplantation; Group 4 underwent only transplantation. RESULTS: Four hundred thirty-seven patients were enrolled. Group 3 responded best, more than 90% repigmentation was achieved in 81.3% of patients, and 94.8% patients experienced 50% or greater repigmentation. Statistical analysis showed that there was a highly significant difference between the four groups (χ(2) = 35.56, p < .001). Homogeneous skin color was obtained on the repigmentation areas, and no scarring or other serious side effects were observed. CONCLUSIONS: Cultured autologous melanocyte transplantation is an effective treatment for stable vitiligo. Combination of NB-UVB therapy with melanocyte transplantation can accelerate repigmentation of transplanted vitiliginous areas, especially if NB-UVB is given before and after transplantation.


Assuntos
Melanócitos/transplante , Terapia Ultravioleta/métodos , Vitiligo/terapia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transplante Autólogo , Adulto Jovem
17.
Zhonghua Yi Xue Za Zhi ; 93(2): 123-7, 2013 Jan 08.
Artigo em Chinês | MEDLINE | ID: mdl-23648349

RESUMO

OBJECTIVE: To determine the impact on tyrosinase expression and export from endoplasmic reticulum by inhibition of 26S proteasome. METHODS: Western blot was used to detect 26S proteasome from 8 vitiligo patients and 4 healthy controls. Melanocytes were incubated with proteasome inhibitor (lactacystin) and further detected as follows: cell survival by MTT assay, proteasome activity with fluorescence, ultrastructure observation with electron microscope, co-localization of tyrosinase and calreticulin (endoplasmic reticulum marker) by confocal laser scanning microscopy and 26S proteasome and tyrosinase with Western blot. RESULTS: The 26S proteasome expression level from lesions of vitiligo (1.05 ± 0.40) was significantly lower than the donor sites (1.82 ± 0.88) and the healthy controls (1.88 ± 0.16) (P < 0.05). But no significant difference existed between the latter two groups (P > 0.05). Compared to the untreated group, a 12-h incubation of 10 µmol/L lactacystin showed inhibitory effects on melanocytes (0.999 ± 0.110 vs 1.372 ± 0.127, P < 0.05) and significantly decreased proteasome activity (0.234 ± 0.019 vs 1, P < 0.01). Expansion rate of endoplasmic reticulum in the lactacystin group (1.91 ± 0.17) was significantly higher than that of the untreated cells (1.17 ± 0.11) (P < 0.05). More tyrosinase co-localized with calreticulin in endoplasmic reticulum in lactacystin-treated cells was observed than that of the untreated group. Compared with the untreated group, significantly decreased levels of tyrosinase (146 ± 10 vs 269 ± 8, P < 0.01) and tyrosinase activity (0.159 ± 0.017 vs 0.221 ± 0.019, P < 0.01) were shown in the lactacystin group (P < 0.05). CONCLUSIONS: Significantly decrease of 26S proteasome is found in lesions of vitiligo patients. Inhibition of 26S proteasome may lead to expansion of endoplasmic reticulum of melanocytes, impact export of tyrosinase from melanocyte endoplasmic reticulum and expression of tyrosinase.


Assuntos
Acetilcisteína/análogos & derivados , Retículo Endoplasmático/metabolismo , Melanócitos/efeitos dos fármacos , Melanócitos/metabolismo , Monofenol Mono-Oxigenase/metabolismo , Complexo de Endopeptidases do Proteassoma/metabolismo , Acetilcisteína/farmacologia , Adulto , Estudos de Casos e Controles , Células Cultivadas , Inibidores de Cisteína Proteinase/farmacologia , Feminino , Humanos , Masculino , Melanócitos/citologia , Vitiligo/metabolismo , Vitiligo/patologia , Adulto Jovem
18.
Skin Res Technol ; 19(3): 352-5, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23594100

RESUMO

BACKGROUND: Mycosis fungoides (MF) is cutaneous lymphoma of the T-cell lineage. MF is a diagnostic challenge. In vivo reflectance confocal microscopy (RCM) reproducible imaging technique already reported to be useful in the diagnosis of skin diseases. The aims of our study were to define RCM features of MF and to evaluate its feasibility in biopsy site selection. METHODS: Each lesion was selected for RCM evaluation from 10 patients with an established diagnosis of MF. Subsequently, a biopsy of the same areas evaluated with RCM was rendered for histopathological examination. RESULTS: A series of RCM features of MF was identified and shown to correlate well with histopathological evaluation. We could find hyperkeratosis in five patients (10 : 50%); disarray of honeycomb of stratum spinosum in three patients (10 : 30%). In 10 patients (10 : 100%) of the MF, we could find that dermal papillary rings were weak reflected light; round to oval cells diffusely widespread throughout the epidermis and in the papillary dermis, infiltration of inflammatory cells in superficial dermis. Two (10 : 20%) of them can find vesicle area opaca in plaque stage MF, filled with monomorphous weakly refractile oval to round cells. CONCLUSION: The utility of RCM as a diagnostic tool for MF awaits further evaluation, although it appears to be promising for biopsy site selection.


Assuntos
Dermoscopia/métodos , Aumento da Imagem/métodos , Microscopia Confocal/métodos , Micose Fungoide/patologia , Neoplasias Cutâneas/patologia , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Estatística como Assunto , Adulto Jovem
19.
J Invest Dermatol ; 133(2): 403-10, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22951725

RESUMO

To identify susceptibility loci for vitiligo, we extended our previous vitiligo genome-wide association study with a two-staged replication study that included 6,857 cases and 12,025 controls from the Chinese Han population. We identified three susceptibility loci, 12q13.2 (rs10876864, P(combined)=8.07 × 10(-12), odds ratio (OR)=1.18), 11q23.3 (rs638893, P(combined)=2.47 × 10(-9), OR=1.22), and 10q22.1 (rs1417210, P(combined)=1.83 × 10(-8), OR=0.88), and confirmed three previously reported loci for vitiligo, 3q28 (rs9851967, P(combined)=8.57 × 10(-8), OR=0.88), 10p15.1 (rs3134883, P(combined)=1.01 × 10(-5), OR=1.11), and 22q12.3 (rs2051582, P(combined)=2.12 × 10(-5), OR=1.14), in the Chinese Han population. The most significant single-nucleotide polymorphism in the 12q13.2 locus is located immediately upstream of the promoter region of PMEL, which encodes a major melanocyte antigen and has expression loss in the vitiligo lesional skin. In addition, both 12q13.2 and 11q23.3 loci identified in this study are also associated with other autoimmune diseases such as type 1 diabetes and systemic lupus erythematosus. These findings provide indirect support that vitiligo pathogenesis involves a complex interplay between immune regulatory factors and melanocyte-specific factors. They also highlight similarities and differences in the genetic basis of vitiligo in Chinese and Caucasian populations.


Assuntos
Povo Asiático/genética , Povo Asiático/estatística & dados numéricos , Estudo de Associação Genômica Ampla , Vitiligo/etnologia , Vitiligo/genética , Antígeno gp100 de Melanoma/genética , Adolescente , Adulto , China/epidemiologia , Feminino , Predisposição Genética para Doença/etnologia , Predisposição Genética para Doença/genética , Humanos , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Regiões Promotoras Genéticas/genética , Adulto Jovem
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