title: Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain.
abstract: BACKGROUND
  Previous reports on the prevalence of autosomal recessive congenital ichthyosis (ARCI) were based on single source data, such as lists of members in a patient association. These sources are likely to be incomplete.
  
  
  OBJECTIVE
  We sought to describe the prevalence of ARCI.
  
  
  METHODS
  We obtained data from 3 incomplete sources (dermatology departments, a genetic testing laboratory, and the Spanish ichthyosis association) and combined them using the capture-recapture method.
  
  
  RESULTS
  We identified 144 living patients with ARCI. Of these, 62.5% had classic lamellar ichthyosis and 30.6% had congenital ichthyosiform erythroderma. The age distribution included fewer elderly patients than expected. The prevalence of ARCI in patients younger than 10 years, the best estimate as less subject to bias, was 16.2 cases per million inhabitants (95% confidence interval 13.3-23.0). According to the capture-recapture model, 71% of the patients were not being followed up in reference units, 92% did not have a genetic diagnosis, and 78% were not members of the ichthyosis association.
  
  
  CONCLUSIONS
  The prevalence of ARCI in Spain and findings related to the Spanish health care system might not be generalizable to other countries.
  
  
  CONCLUSIONS
  The prevalence of ARCI is higher than previously reported. Many patients are not being followed up in reference units, do not have a genetic diagnosis, and are not members of a patient association, indicating room for improvement in their care. Data suggesting a reduced number of older patients might imply a shorter life expectancy and this requires further study.
authors: Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain. ahernandez_hnj@yahoo.es
authors: Angela
authors: A
authors: Hernández-Martín
authors: Ignacio
authors: I
authors: Garcia-Doval
authors: Beatriz
authors: B
authors: Aranegui
authors: Pablo
authors: P
authors: de Unamuno
authors: Laura
authors: L
authors: Rodríguez-Pazos
authors: Maria-Antonia
authors: MA
authors: González-Enseñat
authors: Asunción
authors: A
authors: Vicente
authors: Ana
authors: A
authors: Martín-Santiago
authors: Begoña
authors: B
authors: Garcia-Bravo
authors: Marta
authors: M
authors: Feito
authors: Eulalia
authors: E
authors: Baselga
authors: Sara
authors: S
authors: Círia
authors: Raúl
authors: R
authors: de Lucas
authors: Manuel
authors: M
authors: Ginarte
authors: Rogelio
authors: R
authors: González-Sarmiento
authors: Antonio
authors: A
authors: Torrelo
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D016208:Databases, Factual / Q000706:statistics & numerical data*; D004812:Epidemiologic Methods; D005260:Female; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000453:epidemiology* / Q000235:genetics; D017490:Ichthyosis, Lamellar / Q000453:epidemiology* / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D012017:Referral and Consultation / Q000706:statistics & numerical data; D013030:Spain / Q000453:epidemiology; D055815:Young Adult