Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan - 11/10/19
Abstract |
Background |
Autosomal recessive congenital ichthyosis (ARCI) and ichthyosis syndrome (IS) are rare genetic skin disorders.
Objective |
To estimate the number of patients with ARCI and IS in Japan and clarify the clinicoepidemiologic features of these diseases.
Methods |
We performed a nationwide survey of patients treated for ARCI or IS during January 2005-December 2009. We developed diagnostic criteria and conducted a primary survey in a stratified random sample of Japanese hospitals to quantify the number of outpatients and inpatients with ARCI or IS. We performed a secondary survey of clinicoepidemiologic features in positive cases.
Results |
The estimated number of patients receiving treatment for ARCI and IS during 2005-2009 was 220 (95% confidence interval [CI] 180-260). The estimated disease distribution was as follows: 95 (95% CI 80-110) patients with nonbullous congenital ichthyosiform erythroderma, 30 (95% CI 20-40) with lamellar ichthyosis, 15 (95% CI 10-20) with harlequin ichthyosis, and 85 (95% CI 50-120) with IS.
Limitations |
Patients with a mild case of the disease might not have visited a dermatology department, potentially causing underestimation of affected patients.
Conclusion |
We report the estimated number of patients with ARCI and IS in Japan and sex differences in the age distribution.
Le texte complet de cet article est disponible en PDF.Key words : autosomal recessive congenital ichthyosis, congenital ichthyosiform erythroderma, epidemiology, harlequin ichthyosis, ichthyosis syndrome, lamellar ichthyosis, nationwide survey, nonbullous congenital ichthyosiform erythroderma
Abbreviations used : ARCI, BCIE, CI, HI, IS, LI, NBCIE
Plan
Funding sources: Supported by Health and Labour Sciences Research grants (for research on intractable diseases) from the Ministry of Health, Labour and Welfare, Japan. |
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Conflicts of interest: None disclosed. |
Vol 81 - N° 5
P. 1086 - novembre 2019 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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