Original articleEpidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: Results from a nationwide survey
Section snippets
Study design and subjects
These nationwide mail surveys for BCIE consisted of an initial survey to estimate the number of individuals with BCIE and a second survey to elucidate the epidemiologic and clinical characteristics of patients with this disease in Japan.
Both surveys of BCIE were conducted in 2003 in cooperation with the Rare and Intractable Skin Diseases Research Committee and the Research Committee on Epidemiology of Intractable Diseases of the Ministry of Health, Labor, and Welfare of Japan.
Our target
Results
From a total of 2706 departments of dermatology in all of Japan, we selected 802 (29.6%) departments for this study (Fig 1). A response rate of 63.2% (507 of 802 departments) was achieved for the initial survey. Among these 507 dermatology departments, a total of 42 patients with BCIE were reported (Table I). A response rate of 80.9% (34 of 42 cases) was achieved for the second survey. No overlapping cases were identified. Approximately 17.6% (6 of 34 cases) were deemed ineligible, as they
Discussion
BCIE is a rare, autosomal dominant genodermatosis characterized by erythematous, erosive and bullous skin lesions at birth or shortly thereafter.
Given the rarity of BCIE, conducting a comprehensive, nationwide epidemiologic study is difficult. To our knowledge, no study on the epidemiology of BCIE has previously been performed on a large population.
This study was conducted by the Rare and Intractable Skin Diseases Research Committee and the Research Committee on Epidemiology of Intractable
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Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan
2019, Journal of the American Academy of DermatologyCitation Excerpt :Serine protease inhibitor Kazal type 5 (SPINK5), connexin 26, and aldehyde dehydrogenase 3 family member A2 (ALDH3A2) were identified in IS. In 2013, we reported the results of our nationwide survey of bullous congenital ichthyosiform erythroderma (epidermolytic ichthyosis) in Japan.1 The results of our 2 surveys (the previous survey and the current one) revealed the clinical and epidemiologic characteristics of the disease in Japan.
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Supported by a Grant-in-Aid to the Rare and Intractable Skin Diseases Research Committee, and the Research Committee on the Epidemiology of Intractable Diseases, from the Ministry of Health, Labor, and Welfare of Japan.
Conflicts of interest: None declared.