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.

[dystrophic epidermolysis bullosa]

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 .To determine the prevalence of DEB in Spain .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 .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 .T he 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 .

Diseases
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Diseases presenting "estimated prevalence of" symptom

achondroplasia

dystrophic epidermolysis bullosa

kabuki syndrome

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