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, A.; Rodríguez‐Díaz, Eloy; Bernabéu‐Wittel, José; González-Hermosa, M.R.; García-Patos, Vicenç; Ginarte, Manuel; Mascaró, José 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.ad.2013.03.006

Cited by 24 publications

(14 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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“…This observational study presents epidemiological data on each subtype of EB, extracted from the molecularly well‐characterized Dutch EB cohort in the Dutch‐EB‐Reg. In recent decades, several epidemiological studies have been carried out in different countries, reporting varying and sometimes inconclusive incidences and prevalences (1.4–25.0 per million live births and 2.82–54.0 per million population, respectively), mostly based on clinical features or molecular findings 6–19 . In 90.5% of the EB‐patients in our cohort the diagnosis was genetically confirmed, allowing accurate epidemiological analyses.…”

Section: Discussionmentioning

confidence: 73%

Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

Baardman

Yenamandra

Duipmans

et al. 2020

Acad Dermatol Venereol

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Background Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. Several epidemiological studies in other populations have been carried out, reporting varying and sometimes inconclusive figures, highlighting the need for standardized epidemiological analyses in well‐characterized cohorts. Objectives To evaluate the epidemiological data on EB in the Netherlands, extracted from the molecularly well‐characterized cohort in the Dutch EB Registry. Methods In this observational study all EB‐patients that were based in the Netherlands and captured in the Dutch EB Registry between 1988 and 2018 were included. The epidemiological outcomes were based on complete diagnostic data (clinical features, immunofluorescence, electron microscopy and mutation analysis), with longitudinal follow‐up. Results A total of 464 EB‐patients (287 families) were included. The incidence and point‐prevalence of EB in the Netherlands were 41.3 per million live births and 22.4 per million population, respectively. EB Simplex (EBS), Junctional EB (JEB), Dystrophic EB (DEB) and Kindler EB were diagnosed in 45.7%, 18.8%, 34.7% and 0.9% of the EB‐patients, respectively, with an incidence and point‐prevalence of 17.5 and 11.9 (EBS), 9.3 and 2.1 (JEB), 14.1 and 8.3 (DEB), 0.5 and 0.2 (Kindler EB). In 90.5% of the EB‐patients the diagnosis was genetically confirmed. During the investigated time period 73 EB‐patients died, 72.6% of whom as a direct consequence of their EB. Conclusion The epidemiological outcomes of EB in the Netherlands are high, attributed to a high detection rate in a well‐organized set‐up, indicating that EB might be more common than previously assumed. These epidemiological data help to understand the extensive need for (specialized) medical care of EB‐patients and is invaluable for the design and execution of therapeutic trials. This study emphasizes the importance of thorough reporting systems and registries worldwide.

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“…The incidence of DDEB in Norway and the USA has been reported as 1Á4 and 2Á5 per million live births, 17 respectively, and that of RDEB in the USA at 3Á05 per million. 15 Figures for prevalence of all types of DEB have been estimated at approximately six per million in the USA 15 and Spain, 18 eight per million in Australia 19 and 20 per million in Scotland, 20 the latter probably reflecting greater capture rather than a true higher prevalence. intermediate, non-Hallopeau-Siemens RDEB) and severe RDEB (previously RDEB generalized severe, Hallopeau-Siemens RDEB).…”

Section: Dystrophic Epidermolysis Bullosamentioning

confidence: 99%