RESUMO
Mixed vascular naevus (MVN) is characterized by the co-occurrence of telangiectatic capillary malformation and naevus anaemicus, which can appear as a pure cutaneous phenotype or be combined with systemic manifestations such as brain malformations, neurological abnormalities and musculoskeletal disorders. Recently, GNA11 and GNAQ somatic mutations have been reported in some patients with isolated and syndromic MVN. We report three children with MVN syndrome with generalized cutaneous manifestations and a number of systemic associations not reported to date, including ophthalmological anomalies, musculoskeletal abnormalities such as Sprengel deformity and posterior vertebral fusion anomalies, and septal heart defects. We also confirm a somatic mutation of GNA11 in both telangiectatic naevus and naevus anaemicus in two of our patients and discuss a possible common pathogenic mechanism underlying the different manifestations of the syndrome. Currently, there are no guidelines for the evaluation of patients with MVN syndrome, but according to the different known aspects of the disease, a complete clinical examination should be made, and complementary laboratory and imaging tests should be considered.
Assuntos
Capilares/anormalidades , Subunidades alfa de Proteínas de Ligação ao GTP/genética , Mutação , Nevo/genética , Telangiectasia/genética , Malformações Vasculares/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Capilares/patologia , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Nevo/patologia , Síndrome , Telangiectasia/patologia , Malformações Vasculares/patologiaRESUMO
Blisters associated with PUVA treatments are an adverse effect of photochemotherapy that has been reported in the literature. Asymptomatic blisters appear spontaneously mainly on the lower limbs and resolve without treatment. The differential diagnoses to consider include a phototoxic reaction, pseudoporphyria, and PUVA-induced bullous pemphigoid. We describe the clinical and histologic features in 5 cases of blistering secondary to PUVA treatment. If this adverse effect is accurately diagnosed, photochemotherapy need not be interrupted, and unnecessary diagnostic procedures and additional treatments can be avoided.
Assuntos
Vesícula/etiologia , Terapia PUVA/efeitos adversos , Adulto , Idoso , Idoso de 80 Anos ou mais , Vesícula/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Micose Fungoide/tratamento farmacológico , Parapsoríase/tratamento farmacológico , Penfigoide Bolhoso/diagnósticoAssuntos
Dermatoses Faciais/diagnóstico por imagem , Granuloma/diagnóstico por imagem , Ultrassonografia Doppler , Abscesso/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Cisto Epidérmico/diagnóstico , Granuloma Piogênico/diagnóstico , Humanos , Masculino , Pioderma/diagnóstico por imagem , Remissão EspontâneaAssuntos
Vesícula/induzido quimicamente , Depressores do Sistema Nervoso Central/intoxicação , Coma/complicações , Overdose de Drogas/complicações , Vesícula/fisiopatologia , Clorazepato Dipotássico/intoxicação , Coma/induzido quimicamente , Cloridrato de Duloxetina/intoxicação , Feminino , Frutose/análogos & derivados , Frutose/intoxicação , Humanos , Isquemia/induzido quimicamente , Transtornos da Personalidade/tratamento farmacológico , Pressão , Fumarato de Quetiapina/intoxicação , Pele/irrigação sanguínea , Transtornos Relacionados ao Uso de Substâncias/complicações , Tentativa de Suicídio , Topiramato , Adulto JovemRESUMO
Parvovirus B19 infection can cause a wide range of cutaneous manifestations, including papular-purpuric gloves-and-socks syndrome (PPGSS) and petechial bathing trunk eruption. We report a case of an immunocompetent woman with a primary parvovirus B19 infection presenting as concurrent PPGSS and petechial bathing trunk eruption. Parvovirus B19 seroconversion was confirmed several days after the onset of the clinical manifestations. The coexistence of these two cutaneous manifestations of primary parvovirus B19 infection has rarely been reported in the literature. It is important to recognize parvovirus B19 infection early, based on the cutaneous manifestations, to avoid potentially serious systemic complications in susceptible individuals.
Assuntos
DNA Viral/análise , Derme/patologia , Eritema Infeccioso/diagnóstico , Dermatoses do Pé/diagnóstico , Dermatoses da Mão/diagnóstico , Parvovirus B19 Humano/genética , Tronco/patologia , Biópsia , Derme/virologia , Eritema Infeccioso/virologia , Feminino , Dermatoses do Pé/virologia , Dermatoses da Mão/virologia , Humanos , Pessoa de Meia-Idade , Parvovirus B19 Humano/isolamento & purificação , Reação em Cadeia da Polimerase , SíndromeAssuntos
Neoplasias da Mama/radioterapia , Neoplasias Induzidas por Radiação/etiologia , Radioterapia Adjuvante/efeitos adversos , Xantomatose/etiologia , Idoso de 80 Anos ou mais , Antineoplásicos/efeitos adversos , Antineoplásicos/uso terapêutico , Biópsia , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/cirurgia , Terapia Combinada , Diagnóstico Diferencial , Feminino , Humanos , Mastectomia , Mastite/diagnóstico , Recidiva Local de Neoplasia/diagnósticoRESUMO
Annular lichenoid dermatitis of youth is a lichenoid dermatosis of unknown etiology. It mostly affects children and adolescents and has well-defined clinical and histological characteristics that permit a diagnosis. We present 2 new cases of annular lichenoid dermatitis of youth with classical clinical features in 2 girls, aged 2 and 4 years. The histologic findings, however, differed from those reported in the literature in that the lichenoid inflammatory infiltrate was located primarily at the top of the dermal papillae and not at the tips of the rete ridges. In both cases, the lesions regressed spontaneously without treatment.
Assuntos
Erupções Liquenoides/patologia , Pré-Escolar , Feminino , HumanosAssuntos
DNA/genética , Mutação de Sentido Incorreto , Dermatopatias/congênito , Pele/patologia , Transglutaminases/genética , Biópsia , Pré-Escolar , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Dermatopatias/diagnóstico , Dermatopatias/enzimologia , Dermatopatias/genética , Transglutaminases/metabolismoAssuntos
Implantes de Mama/efeitos adversos , Mastite/diagnóstico por imagem , Silicones/efeitos adversos , Adulto , Diagnóstico Diferencial , Eritema Endurado/diagnóstico , Feminino , Hidradenite Supurativa/diagnóstico , Humanos , Mamoplastia , Mastectomia , Mastite/induzido quimicamente , Mastite/diagnóstico , Mastite/cirurgiaRESUMO
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a rare disease that represents a heavy burden for both the patient and the health care system. There are currently no data on the prevalence of DEB in Spain. OBJECTIVE: To determine the prevalence of DEB in Spain. METHODS: We used data from 3 incomplete population-based sources (hospital dermatology departments, diagnostic laboratories performing antigenic mapping, genetic testing or both, and the Spanish Association of Epidermolysis Bullosa Patients [DEBRA]) and combined them using the 3-source capture-recapture methodology. RESULTS: We identified 152 living DEB patients. The estimated prevalence of DEB was 6.0 cases per million (95% CI, 4.2-11.8) in adults and 15.3 (95% CI, 10.4-40.8) in children under 18 years of age. The data indicated that 77% of the patients were not being followed up in specialized centers of reference; 65% had not had a genetic diagnosis, and 76% were not members of DEBRA. CONCLUSIONS: The prevalence of DEB in Spain is 6.0 patients per million (95% CI, 4.2-11.8), a figure higher than previous estimates in many areas, but similar to those found in other southern Europe countries. The north-south difference may represent real geographic differences in prevalence, but it might be due to the fact that most of the data come from registries with a lower than expected catchment. Many patients are not being followed up in centers of reference, do not have genetic diagnosis, and are not members of patients' associations, suggesting that there is room for considerable improvement in their care.
Assuntos
Epidermólise Bolhosa Distrófica/epidemiologia , Epidermólise Bolhosa Distrófica/terapia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Estudos Transversais , Necessidades e Demandas de Serviços de Saúde/estatística & dados numéricos , Humanos , Lactente , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Melhoria de Qualidade , Espanha/epidemiologia , Adulto JovemRESUMO
The false-negative rate of ultrasound-guided sextant prostate biopsy has been estimated to be as high as 35 %. A significant percentage (10-35 %) of these prostate cancers diagnosed at a second or later attempt are high grade and, therefore, potentially lethal. We discuss the feasibility for performing optically guided biopsy using elastic scattering spectroscopy (ESS) to reduce sampling errors and improve sensitivity. ESS measurements were performed on 42 prostate glands ex vivo and correlated with standard histopathological assessment. Sliced glands were examined with wavelength ranges of 330-760 nm. The ESS portable system used a new fiber-optic probe with integrated cutting tool, designed specifically for ex vivo pathology applications. ESS spectra were grouped by diagnosis from standard histopathological procedure and then classified using linear support vector machine. Preliminary data are encouraging. ESS data showed strong spectral trends correlating with the histopathological assignments. The classification results showed a sensitivity of 0.83 and specificity of 0.87 for distinguishing dysplastic prostatic tissue from benign prostatic tissue. Similar results were obtained for distinguishing dysplastic prostatic tissue from prostatitis with a sensitivity and specificity of 0.80 and 0.88, respectively. The negative predictive values obtained with ESS are better than those obtained with transrectal ultrasound (TRUS)-guided core-needle biopsy.