Assuntos
Alemtuzumab/efeitos adversos , Alemtuzumab/uso terapêutico , Alopecia/etiologia , Fatores Imunológicos/efeitos adversos , Fatores Imunológicos/uso terapêutico , Esclerose Múltipla Recidivante-Remitente/tratamento farmacológico , Adulto , Alopecia/patologia , Feminino , Humanos , Masculino , Esclerose Múltipla Recidivante-Remitente/complicações , Vitiligo/complicações , Vitiligo/patologiaRESUMO
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 JovemAssuntos
Síndrome da Imunodeficiência Adquirida/complicações , Linfoma de Burkitt/etiologia , Neoplasias Cutâneas/etiologia , Adulto , Bissexualidade , Medula Óssea/patologia , Linfoma de Burkitt/patologia , Humanos , Masculino , Neoplasias Cutâneas/patologia , Transtornos Relacionados ao Uso de Substâncias/complicações , Vísceras/patologiaRESUMO
We study here the case of a male patient aged 22 years with antecedents of Down syndrome and X-linked ichthyosis. The results obtained from the administration of 13-cis retinoic acid are commented upon. The association with other diseases and the treatment are also reviewed.