Dreyfus Isabelle, Chouquet Cécile, Ezzedine Khaled, Henner Sophie, Chiavérini Christine, Maza Aude, Pascal Sandrine, Rodriguez Lauriane, Vabres Pierre, Martin Ludovic, Mallet Stéphanie, Barbarot Sébastien, Dupuis Jérôme, Mazereeuw-Hautier Juliette
Reference Centre for Rare Skin Diseases, Dermatology Department, Larrey Hospital, CHU Toulouse, Toulouse, France.
Orphanet J Rare Dis. 2014 Jan 6;9:1. doi: 10.1186/1750-1172-9-1.
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.
遗传性鱼鳞病是一组罕见的皮肤疾病,其特征为鳞屑、角化过度,以及偶见的红斑,累及大部分皮肤。其流行病学情况仍鲜有描述。本研究旨在评估法国遗传性鱼鳞病(不包括非常轻微的形式)及其不同临床类型的患病率。
本研究采用捕获 - 再捕获法。根据统计要求,使用3个不同列表(参考/能力中心、法国鱼鳞病患者协会和互联网网络)记录此类患者。研究在封闭期内在5个地区进行。
患病率估计为每百万人13.3例(/M)(95%置信区间,[10.9 - 17.6])。关于常染色体隐性先天性鱼鳞病,患病率估计为7/M(95%置信区间[5.7 - 9.2]),其中板层状鱼鳞病和先天性鱼鳞病样红皮病的患病率分别为4.5/M(95%置信区间[3.7 - 5.9])和1.9/M(95%置信区间[1.6 - 2.6])。角蛋白病形式的患病率估计为1.1/M(95%置信区间[0.9 - 1.5])。综合征形式(所有临床形式合计)的患病率估计为1.9/M(95%置信区间[1.6 - 2.6])。
我们的结果构成了一个关键基础,可据此合理确定改善患者护理所需的必要卫生措施规模,并设计进一步的临床研究。