Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan

Michiko Kurosawa, Ritei Uehara, Atsushi Takagi, Yumi Aoyama, Keiji Iwatsuki, Masayuki Amagai, Masaki Nagai, Yosikazu Nakamura, Yutaka Inaba, Kazuhito Yokoyama, Shigaku Ikeda

Research output: Contribution to journalArticle

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.

Original languageEnglish
JournalJournal of the American Academy of Dermatology
DOIs
Publication statusAccepted/In press - 2018 Jan 1

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Ichthyosis
Japan
Lamellar Ichthyosis
Confidence Intervals
Surveys and Questionnaires
Inborn Genetic Diseases
Age Distribution
Dermatology
Sex Characteristics

Keywords

  • autosomal recessive congenital ichthyosis
  • congenital ichthyosiform erythroderma
  • epidemiology
  • harlequin ichthyosis
  • ichthyosis syndrome
  • lamellar ichthyosis
  • nationwide survey
  • nonbullous congenital ichthyosiform erythroderma

ASJC Scopus subject areas

  • Dermatology

Cite this

Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan. / Kurosawa, Michiko; Uehara, Ritei; Takagi, Atsushi; Aoyama, Yumi; Iwatsuki, Keiji; Amagai, Masayuki; Nagai, Masaki; Nakamura, Yosikazu; Inaba, Yutaka; Yokoyama, Kazuhito; Ikeda, Shigaku.

In: Journal of the American Academy of Dermatology, 01.01.2018.

Research output: Contribution to journalArticle

Kurosawa, Michiko ; Uehara, Ritei ; Takagi, Atsushi ; Aoyama, Yumi ; Iwatsuki, Keiji ; Amagai, Masayuki ; Nagai, Masaki ; Nakamura, Yosikazu ; Inaba, Yutaka ; Yokoyama, Kazuhito ; Ikeda, Shigaku. / Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan. In: Journal of the American Academy of Dermatology. 2018.
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AU - Aoyama, Yumi

AU - Iwatsuki, Keiji

AU - Amagai, Masayuki

AU - Nagai, Masaki

AU - Nakamura, Yosikazu

AU - Inaba, Yutaka

AU - Yokoyama, Kazuhito

AU - Ikeda, Shigaku

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N2 - 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.

AB - 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.

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