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

Hernández‐Martín, Ángela; Aranegui, Beatriz; Escámez, M.J.; Lucas, R. de; Vicente, Asun; Rodríguez‐Díaz, Eloy; Bernabéu‐Wittel, José; González-Hermosa, M.R.; García-Patos, Vicenç; Ginarte, Manuel; Mascaró, J. M.; Corredera, Cristina; Baselga, Eulàlia; Santiago, Juan Luis; Chaves, Antonio; Román, Concepción; Evole, M.; Martín‐Santiago, A.; Torrelo, Antonio; Río, Marcela Del; Feito, Marta; Gonzalez-Enseñat, M.A.; Romero, Gabriela; Morcillo-Makow, E.; Abaitua, I.; García‐Doval, I.

doi:10.1016/j.adengl.2013.03.011

Cited by 9 publications

(13 citation statements)

References 18 publications

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“…At present in the Czech Republic, we have 57 living patients with DEB. The estimated prevalence of DEB is 5·4 cases per million inhabitants in the overall Czech population – similar to those found in other European countries . The overall reported prevalence varies from 20·4 in Scotland to 2·4 in the U.S.A. (www.orpha.net) .…”

Section: Mutations and Phenotypes Identified In Czech Probands With Esupporting

confidence: 74%

Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic

et al. 2016

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DEAR EDITOR, Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin disorders characterized by blister formation. Classification of patients with EB begins with their separation into one of the four major EB groups, based on the level to which blisters develop: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. The next level of subclassification takes into account the clinical features present in a given patient, most notably the distribution and severity of cutaneous and extracutaneous disease involvement. 1,2We started DNA analysis of EB in 2005 when polymerase chain reaction (PCR) direct sequencing of COL7A1, KRT5 and KRT14 was introduced in connection with clinical, ultrastructural and immunohistochemical analysis. 3,4 In 2014, we implemented PCR direct sequencing of TGM5 and the solution-based capture method SeqCap EZ Choice Library (Roche NimbleGen; Roche, Basel, Switzerland) and targeted resequencing. A custom capture array was designed to capture exons and adjacent intron sequences of 83 genes associated with genodermatoses, of which 18 genes are associated with an EB phenotype [TGM5, PKP1, DSP, JUP (suprabasal EBS); KRT5, KRT14, PLEC, EXPH5, DST (basal EBS); COL17A1, LAMA3, LAMB3, LAMC2, ITGA6, ITGB4, ITGA3 (JEB); COL7A1 (DEB); and FERMT1 (Kindler syndrome)].

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Section: Mutations and Phenotypes Identified In Czech Probands With Esupporting

confidence: 74%

Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic

et al. 2016

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“…In addition, some of these individuals might also have been inadvertently misclassified. The gold standard for case finding uses aggressive epidemiological techniques, coupled with state-of-the-art diagnostic testing, and will be far more likely to more completely and correctly identify affected individuals than retrospective review of hospital or clinic records, other less rigorous sampling techniques (capture-recapture 9 or other), recruitment via advertisements in medical and lay media, or passive reliance on referral by physicians, patients, or their families. Epidemiological estimates will also be influenced by the study population chosen for sampling (ie, inclusive sampling of a well-defined geographic area vs patients seen in a more restricted population, such as those within the catchment area of one or more hospitals, clinics, or practices).…”

Section: Discussionmentioning

confidence: 99%

Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry

2016

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IMPORTANCE Accurate estimation of the incidence and prevalence of each subtype of epidermolysis bullosa (EB) is essential before clinical trials can be designed and sufficient funding allocated by government agencies and third-party insurers for the care of these individuals. OBJECTIVE To determine the incidence and prevalence of inherited EB stratified by subtype in the United States during a 16-year period. DESIGN, SETTING, AND PARTICIPANTS Prospective cross-sectional and longitudinal study. Data were obtained from 3271 patients consecutively enrolled in the National Epidermolysis Bullosa Registry from January 1, 1986, through December 31, 2002, using a detailed instrument created with the assistance of the National Institutes of Health. Analyses were performed in January 1999 and April 2015. Participants were patients of all ages with EB. MAIN OUTCOMES AND MEASURES Extensive clinical and laboratory data were collected on patients who were subclassified and serially revalidated based on published diagnostic recommendations by an international panel of experts. Pertinent to this report, estimates were made of the incidence and prevalence during 2 time frames. RESULTS During the first 5 years of funding of the registry, the overall incidence and prevalence of inherited EB were 19.60 and 8.22 per 1 million live births, respectively. When reassessed over the entire 16 years of the study, the prevalence rose to 11.07, whereas the overall incidence remained unchanged at 19.57 cases. Changes were also observed within some disease subsets as increased numbers of patients were identified, recruited, followed up longitudinally, and resubclassified as needed over time. For example, in 2002, the prevalence of EBS overall and localized EBS had increased considerably by 30.4% and 25.5%, respectively, whereas the prevalence of generalized intermediate EBS declined by 76.7% as a result of later subclassification of some of those patients into other subtypes. In contrast, no significant change was noted in the overall prevalence of JEB or generalized severe JEB, although there was a 73.0% decline in the prevalence of generalized intermediate JEB. CONCLUSIONS AND RELEVANCE Precise estimates of the incidence and prevalence of each major subtype of inherited EB in the United States are now available that should assist investigators in choosing which subtypes are amenable to properly designed, large-scale, clinical trials.

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“…Two recent studies that estimated the prevalence in Spain of DEB and autosomal recessive congenital ichthyosis (ARCI), respectively, reported an approximate prevalence of 6.0 cases per million inhabitants 4 for DEB and 7.2 cases per million inhabitants for ARCI. 5 The same studies also showed that the majority of patients in Spain who have these diseases lack a genetic diagnosis and are not treated in a specialized setting; that is, they do not have access to a hospital staffed by experts and equipped with the material and human resources their treatment requires. The evidence plainly shows that the care of these patients could be improved.…”

Section: Received 25 October 2012; Accepted 22 December 2012mentioning

confidence: 90%