Original article
Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: Results from a nationwide survey

https://doi.org/10.1016/j.jaad.2012.06.044Get rights and content

Background

Detailed nationwide surveys of the epidemiologic and clinical characteristics of bullous congenital ichthyosiform erythroderma (BCIE) (novel synonym: keratinolytic ichthyosis) in a large population have not been performed previously to our knowledge.

Objective

We sought to estimate the number of patients with BCIE who visited dermatology departments in Japan in 2002 and to clarify the clinical and epidemiologic features of the disease.

Methods

A nationwide mail survey was sent to dermatology departments and consisted of an initial survey to estimate the number of individuals with BCIE and a second survey to obtain data on the clinical characteristics of these patients.

Results

The total number of patients with BCIE in Japan was estimated to be 55 (95% confidence interval, 35-75). Clinical data were able to be collected from 28 cases. Clinical manifestations included rash in 27 cases (96.4%), erythroderma in 19 cases (67.9%), and generalized blistering in 15 cases (57.7%). Approximately 75% of patients younger than 20 years showed generalized blistering. Hystrixlike scales were present in 8 female patients (57.1%), whereas large scales were present in 8 male patients (57.1%). Among the 19 patients for whom histopathological information was available, 17 (89.5%) showed granular degeneration.

Limitations

Patients with BCIE who have few subjective symptoms may not have visited a dermatology department, potentially resulting in an underestimation of the number of patients with BCIE.

Conclusion

Important epidemiologic and clinical information on characteristics of BCIE in Japan was obtained, including an estimate of the total number of patients with BCIE in Japan.

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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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.

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