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01.12.2014 | Research | Ausgabe 1/2014 Open Access

Orphanet Journal of Rare Diseases 1/2014

Prevalence of inherited ichthyosis in France: a study using capture-recapture method

Orphanet Journal of Rare Diseases > Ausgabe 1/2014
Isabelle Dreyfus, Cécile Chouquet, Khaled Ezzedine, Sophie Henner, Christine Chiavérini, Aude Maza, Sandrine Pascal, Lauriane Rodriguez, Pierre Vabres, Ludovic Martin, Stéphanie Mallet, Sébastien Barbarot, Jérôme Dupuis, Juliette Mazereeuw-Hautier
Wichtige Hinweise

Competing interests

The authors declare that they have no competing interest.

Authors’ contributions

ID designed and coordinated the study, contributed to collecting data, performed the revision and the interpretation of all the clinical data and wrote the manuscript. CC and JD co-designed the study, performed the statistical analyses and co-wrote the manuscript. SP participated in the statistical analyses. SH, CC, AM, LR, PV, LM, SM and SB contributed to collecting data. KE contributed towards collecting data and revising the manuscript. JMH designed and co-coordinated the study, contributed to the acquisition and interpretation of data and co-wrote the manuscript. All authors read and approved the final manuscript.



Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described. This study aims to evaluate the prevalence of inherited ichthyosis (excluding very mild forms) and its different clinical forms in France.


Capture – recapture method was used for this study. According to statistical requirements, 3 different lists (reference/competence centres, French association of patients with ichthyosis and internet network) were used to record such patients. The study was conducted in 5 areas during a closed period.


The prevalence was estimated at 13.3 per million people (/M) (CI95%, [10.9 – 17.6]). With regard to autosomal recessive congenital ichthyosis, the prevalence was estimated at 7/M (CI 95% [5.7 – 9.2]), with a prevalence of lamellar ichthyosis and congenital ichthyosiform erythroderma of 4.5/M (CI 95% [3.7 – 5.9]) and 1.9/M (CI 95% [1.6 – 2.6]), respectively. Prevalence of keratinopathic forms was estimated at 1.1/M (CI 95% [0.9 – 1.5]). Prevalence of syndromic forms (all clinical forms together) was estimated at 1.9/M (CI 95% [1.6 – 2.6]).


Our results constitute a crucial basis to properly size the necessary health measures that are required to improve patient care and design further clinical studies.
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