Abstract
BackgroundInherited 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.MethodsCapture – 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.ResultsThe 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]).ConclusionsOur results constitute a crucial basis to properly size the necessary health measures that are required to improve patient care and design further clinical studies.
Highlights
Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument
Inherited ichthyoses represent a large group of monogenic Mendelian disorders of cornification due to mutations in genes involved in skin barrier function [1]
Except for very mild forms of ichthyosis, the disease was demonstrated to have a significant impact on quality of life (QOL) [3,4,5,6,7]
Summary
Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. This study aims to evaluate the prevalence of inherited ichthyosis (excluding very mild forms) and its different clinical forms in France. Inherited ichthyoses represent a large group of monogenic Mendelian disorders of cornification due to mutations in genes involved in skin barrier function [1]. Skin changes, affecting all or most of the tegument, are characterized by scaling, hyperkeratosis or both. According to a recent ichthyosis expert consensus, the classification should be clinically based and distinguish between syndromic and nonsyndromic ichthyoses [2]. During the past few years, much progress has been achieved in describing the molecular basis of these disorders and in establishing genotype-phenotype
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