RESUMO
An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabí. Recently, the same mutation has been detected in a Galician patient (Northwest of Spain). By analyzing patterns of genetic variation around this mutation in Ecuadorian patients and population matched controls, we were able to estimate the age of c.1187G > A and the time to their most recent common ancestor (TMRCA) of c.1187G > A Ecuadorian carriers. While the estimated mutation age is 41 generations ago (~1,025 years ago [ya]), the TMRCA of Ecuadorian c.1187G > A carrier haplotypes dates to just 17 generations (~425 ya). Probabilistic-based inferences of local ancestry allowed us to infer a most likely European origin of a few (16% to 30%) Ecuadorian haplotypes carrying this mutation. In addition, inferences on demographic historical changes based on c.1187G > A Ecuadorian carrier haplotypes estimated an exponential population growth starting ~20 generations, compatible with a recent founder effect occurring in Manabí. Two main hypotheses can be considered for the origin of c.1187G > A: (i) the mutation could have arisen in Spain >1,000 ya (being Galicia the possible homeland) and then carried to Ecuador by Spaniards in colonial times ~400 ya, and (ii) two independent mutational events originated this mutation in Ecuador and Galicia. The geographic and cultural characteristics of Manabí could have favored a founder effect that explains the high prevalence of TGM1 c.1187G > A in this region.
Assuntos
Ictiose Lamelar/patologia , Transglutaminases/genética , Equador , Genótipo , Haplótipos , Humanos , Ictiose Lamelar/genética , Polimorfismo de Nucleotídeo Único , Análise de Componente Principal , Sequências de Repetição em Tandem/genéticaRESUMO
BACKGROUND AND OBJECTIVE: Studies on the use of systemic therapy for psoriasis in pediatric patients are scarce. The main aim of this study was to describe the systemic treatments used for moderate to severe psoriasis in pediatric clinical settings. The second aim was to describe the effectiveness and safety of these treatments. MATERIAL AND METHODS: Descriptive, cross-sectional, multicenter study of patients under 18 years of age with moderate to severe psoriasis who were being treated or had been treated with a systemic drug (conventional or biologic) or phototherapy. We recorded demographic and clinical information, treatments received, tolerance, adverse effects, and response to treatment. RESULTS: Data were collected for 40 patients (60% female; mean age, 13 years) who had received 63 treatments in total. The most common first treatment (n=40) was phototherapy (administered to 68% of patients), followed by acitretin (15%). The most common treatments overall (n=63) were phototherapy (57%) and methotrexate (16%). At week 12 (evaluation of systemic treatment and phototherapy), 66% of the patients were classified as good responders and 22% as partial responders. The respective rates for week 24 (evaluation of systemic treatment only) were 36% and 32%. The treatments were well tolerated (97%) and adverse effects were reported in just 11% of cases. There were no treatment discontinuations because of adverse effects. CONCLUSIONS: Phototherapy, followed by methotrexate, was the most common treatment for moderate to severe psoriasis in this series of patients under 18 years. The treatments showed a favorable safety profile and were associated with a good response rate of 66% at week 12 (systemic treatment and phototherapy) and 36% at week 24 (systemic treatment only).
Assuntos
Psoríase/terapia , Acitretina/uso terapêutico , Adolescente , Criança , Comorbidade , Estudos Transversais , Uso de Medicamentos , Humanos , Metotrexato/uso terapêutico , Fototerapia , Utilização de Procedimentos e Técnicas , Psoríase/tratamento farmacológico , Psoríase/epidemiologia , EspanhaAssuntos
Ictiose/genética , Lipase/genética , Mutação de Sentido Incorreto/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Heterozigoto , Homozigoto , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Adulto JovemRESUMO
INTRODUCTION AND OBJECTIVES: The aim of this systematic review was to describe the incidence and mortality of basal cell carcinoma, squamous cell carcinoma, melanoma, and Merkel cell carcinoma in Spain. MATERIAL AND METHODS: We performed a search of the MEDLINE and Embase databases and reviewed articles from the Spanish Network of Cancer Registries (REDECAN) and the International Agency for Research on Cancer (IARC). The methodological quality of the studies was evaluated and statistical heterogeneity was measured using the I(2) index. A random-effects model was used to perform the meta-analysis because of the heterogeneity of the data. RESULTS: Thirty-two papers were included in the systematic review. The crude incidence rate for basal cell carcinoma was 113.05 (95% CI, 89.03-137.08) cases per 100 000 person-years for the studies based on the registration methodology normally used by registries (in which only 1 tumor with histological confirmation is counted per person). However, the same incidence rate calculated on the basis of clinical and histologic criteria and counting tumors rather than individual patients was 253.23 (95% CI, 273.01-269.45) cases per 100 000 person-years. The incidence was 38.16 (95% CI, 31.72-39.97) cases per 100 000 person-years for squamous cell carcinoma, 8.76 (95% CI, 7.50-10.02) cases per 100 000 person-years for melanoma, and 0.28 (95% CI, 0.15-0.40) cases per 100 000 person-years for Merkel cell carcinoma. CONCLUSIONS: The registration methodology normally used by cancer registries probably underestimates the incidence rates of basal cell and squamous cell carcinoma in Spain. The incidence rates of cutaneous melanoma and Merkel cell carcinoma are lower in Spain than in other European countries.
Assuntos
Neoplasias Cutâneas/epidemiologia , Carcinoma Basocelular/epidemiologia , Carcinoma de Célula de Merkel/epidemiologia , Carcinoma de Células Escamosas/epidemiologia , Humanos , Incidência , Melanoma/epidemiologia , Neoplasias Cutâneas/mortalidade , Espanha/epidemiologiaRESUMO
Thiazides are widely used diuretics that first became available in the 1950s. The first reports of photosensitivity reactions to thiazides were published shortly after the introduction of these drugs, but few cases have been described since. We review all the cases of photosensitivity due to thiazides published up to December 2011. We found 62 cases, 33 in women and 29 in men. The most common presentation was eczematous lesions in a photodistributed pattern, and the most common causative agent was hydrochlorothiazide. The results of photobiological studies were published in only some of the cases reviewed. In most cases, phototesting revealed an abnormal response to UV-A alone or to both UV-A and UV-B. In some cases, the results of phototesting were normal and only photopatch testing yielded abnormal results. Diagnosis of photosensitivity due to thiazides requires a high degree of suspicion. Ideally, diagnosis should be confirmed by a photobiological study.
Assuntos
Dermatite Fototóxica/etiologia , Tiazidas/efeitos adversos , Dermatite Fototóxica/diagnóstico , Feminino , Humanos , MasculinoAssuntos
Ictiose Lamelar/genética , Lipase/genética , Mutação de Sentido Incorreto/genética , Adolescente , Adulto , Feminino , Heterozigoto , Homozigoto , Humanos , MasculinoRESUMO
Although the existence of photodistributed erythema multiforme has been recognized for years, few cases have been described to date. It is an uncommon, and probably underdiagnosed, skin disorder that can affect individuals of both sexes and all ages. It has been associated with drugs, reactivation of herpes simplex virus infection, and polymorphous light eruption. A diagnosis is made on the basis of history, physical examination, histology, and phototesting. The condition runs a benign, self-limiting course but patients may experience outbreaks for several years if the causative agent is not eliminated. It is treated symptomatically and patients are advised to avoid triggers and excessive sun exposure.
Assuntos
Eritema Multiforme/etiologia , Transtornos de Fotossensibilidade/etiologia , Adolescente , Corticosteroides/uso terapêutico , Adulto , Idade de Início , Idoso , Criança , Diagnóstico Diferencial , Eritema Multiforme/induzido quimicamente , Eritema Multiforme/diagnóstico , Eritema Multiforme/tratamento farmacológico , Eritema Multiforme/epidemiologia , Feminino , Herpes Simples/complicações , Antagonistas dos Receptores Histamínicos/uso terapêutico , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Masculino , Pessoa de Meia-Idade , Mucosite/etiologia , Transtornos de Fotossensibilidade/induzido quimicamente , Transtornos de Fotossensibilidade/diagnóstico , Transtornos de Fotossensibilidade/tratamento farmacológico , Transtornos de Fotossensibilidade/epidemiologia , Luz Solar/efeitos adversos , Adulto JovemRESUMO
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathing suit ichthyosis. The combined prevalence of LI and CIE has been estimated at 1 case per 138 000 to 300 000 population. In some countries or regions, such as Norway and the coast of Galicia, the prevalence may be higher due to founder effects. ARCI is genetically highly heterogeneous and has been associated with 6 genes to date: TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22, and ABCA12. In this article, we review the current knowledge on ARCI, with a focus on clinical, histological, ultrastructural, genetic, molecular, and treatment-related aspects.
Assuntos
Eritrodermia Ictiosiforme Congênita/genética , Ictiose Lamelar/genética , Genes Recessivos , Humanos , Eritrodermia Ictiosiforme Congênita/diagnóstico , Eritrodermia Ictiosiforme Congênita/terapia , Ictiose Lamelar/diagnóstico , Ictiose Lamelar/terapiaRESUMO
BACKGROUND: Mutations in six genes have been identified in autosomal recessive congenital ichthyosis (ARCI). To date, few studies have analysed the spectrum of these mutations in specific populations. OBJECTIVES: We have studied the characteristics of patients with ARCI in Galicia (NW Spain). Methods We recruited patients by contacting all dermatology departments of Galicia and the Spanish patient organization for ichthyosis. TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 were analysed in the patients and their relatives. RESULTS: We identified 23 patients with ARCI and estimated a prevalence of 1 : 122 000. Twenty of the patients were studied. Seventeen of them were clinically categorized as having lamellar ichthyosis (LI) and three as having congenital ichthyosiform erythroderma (CIE). TGM1 and ALOXE3 mutations were identified in 12/16 (75%) probands whereas no ALOX12B, NIPAL4 and CYP4F22 mutations were found. TGM1 mutations were found in 11/13 (85%) of LI probands. ALOXE3 mutations were identified in a single patient with CIE. Remarkably, mutations p.Arg760X, p.Asp408ValfsX21 and c.984+1G>A of TGM1 were present in six, four and two families, accounting for 41%, 23% and 14% of all TGM1 mutant alleles, respectively. CONCLUSIONS: The high percentage of patients with the same TGM1 mutations, together with the high number of homozygous probands (64%), indicates the existence of a strong founder effect in our population.
Assuntos
Efeito Fundador , Eritrodermia Ictiosiforme Congênita/genética , Mutação/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Araquidonato 12-Lipoxigenase/genética , Criança , Pré-Escolar , Sistema Enzimático do Citocromo P-450/genética , Feminino , Genótipo , Homozigoto , Humanos , Eritrodermia Ictiosiforme Congênita/etnologia , Lipoxigenase/genética , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Receptores de Superfície Celular/genética , Espanha/etnologia , Transglutaminases/genéticaAssuntos
Neoplasias Faciais/diagnóstico , Células Gigantes/patologia , Histiocitoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Idoso , Queimaduras por Corrente Elétrica/patologia , Traumatismos Faciais/patologia , Neoplasias Faciais/patologia , Histiocitoma/patologia , Humanos , Masculino , Neoplasias Cutâneas/patologia , Fatores de TempoAssuntos
Infecções por HIV/complicações , Folículo Piloso , Púrpura/etiologia , Vasculite Leucocitoclástica Cutânea/etiologia , Adulto , Infecções por HIV/diagnóstico , Doenças do Cabelo/etiologia , Doenças do Cabelo/patologia , Humanos , Masculino , Púrpura/patologia , Vasculite Leucocitoclástica Cutânea/patologia , Adulto JovemAssuntos
Hanseníase Tuberculoide/diagnóstico , Complicações Infecciosas na Gravidez/microbiologia , Brasil/etnologia , Dapsona/uso terapêutico , Diagnóstico Tardio , Dermatoses Faciais/diagnóstico , Dermatoses Faciais/tratamento farmacológico , Dermatoses Faciais/imunologia , Dermatoses Faciais/microbiologia , Feminino , Dermatoses do Pé/diagnóstico , Dermatoses do Pé/tratamento farmacológico , Dermatoses do Pé/imunologia , Dermatoses do Pé/microbiologia , Dermatoses da Mão/diagnóstico , Dermatoses da Mão/tratamento farmacológico , Dermatoses da Mão/imunologia , Dermatoses da Mão/microbiologia , Humanos , Hipestesia/etiologia , Imunidade Celular , Hanseníase Tuberculoide/tratamento farmacológico , Hanseníase Tuberculoide/imunologia , Hanseníase Tuberculoide/microbiologia , Exposição Ocupacional , Prednisona/uso terapêutico , Gravidez , Complicações Infecciosas na Gravidez/imunologia , Rifampina/uso terapêutico , EspanhaRESUMO
Verrucous Carcinoma (VC) of the foot often affects deep structures such as tendons, muscles or bone. The complete removal of the tumor is essential to avoid recurrences. Radiological studies should be performed before surgical planning in order to determine the extent of the tumor. A 54-year-old man presented with a VC of the foot. Magnetic resonance imaging (MRI) demonstrated a soft-tissue mass affecting the plantar aponeurosis and the sole muscles, without evidence of bone invasion. Computed tomography (CT) showed a lytic area with cortical disruption in the fourth metatarsal neck. A transmetatarsal amputation was performed. Histopathological examination confirmed the bone invasion. MRI is considered the imaging technique of choice in studying VC of the foot. Computed tomography is superior to MRI in determining minimum changes in the cortical bone related to tumor invasion. We conclude that when MRI images are not conclusive, CT scan is a good alternative to determine incipient bone invasion.