Prevalencia de la epidermólisis ampollosa distrófica en España: estudio poblacional usando el método de captura-recaptura con 3 fuentes de datos. Evidencia de la necesidad de mejora en la atención sociosanitaria / Prevalence of Dystrophic Epidermolysis Bullosa in Spain: A Population-Based Study Using the 3-Source Capture-Recapture Method. Evidence of a Need for Improvement in Care

Antecedentes: No existen datos sobre la prevalencia de la epidermólisis ampollosa distrófica en España (EAD). La EAD es una enfermedad rara que conlleva una gran carga para el paciente que la sufre y para el sistema de salud que le atiende. Objetivo: Describir la prevalencia de la EAD en España. Métodos: Hemos empleado datos procedentes de 3 fuentes incompletas de pacientes: departamentos de Dermatología, 2 laboratorios de diagnóstico y la Asociación española de pacientes con epidermólisis ampollosa, DEBRA España, y los hemos combinado usando el método de captura-recaptura. Resultados: Hemos identificado 152 pacientes vivos. La prevalencia estimada de EAD fue de 6,0 casos por millón de habitantes (IC 95%: 4,2-11,8). La prevalencia en niños menores de 18 años fue de 15,3 por millón (IC 95%: 10,4-40,8). De acuerdo con el modelo de captura-recaptura el 77% no son seguidos en unidades de referencia, el 65% no tienen diagnóstico genético y el 76% no pertenecen a DEBRA. Conclusiones: La prevalencia de EAD en España es de 6,0 pacientes por millón de habitantes (IC 95%: 4,2 a 11,8), un número mayor que el estimado en otras zonas del mundo, pero similar a otros encontrados en otros países del Sur de Europa. Este resultado puede ser debido a auténticas variaciones geográficas, o a que los otros registros recogen un número incompleto de casos. La mayoría de los pacientes no son seguidos en unidades de referencia, no tienen diagnóstico genético y no son miembros de la asociación de pacientes, lo cual quiere decir que su situación sociosanitaria es muy mejorable (AU)

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 (AU)

Prevalence of dystrophic epidermolysis bullosa in Spain: a population-based study using the 3-source capture-recapture method. Evidence of a need for improvement in care.

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.

[Elastosis perforans serpiginosa associated with Down's syndrome and sex-linked ichthyosis. Treatment with 13-cis-retinoic acid]. / Elastosis perforante serpiginosa asociada a síndrome de Down e ictiosis ligada al sexo. Tratamiento con ácido 13-cis retinoico.

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.