Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup

J Dermatol Sci. 2018 Nov;92(2):127-133. doi: 10.1016/j.jdermsci.2018.08.008. Epub 2018 Sep 11.

Abstract

Background: Congenital ichthyoses (CIs) adversely affect quality of life (QOL) in patients. However, the effects of CIs on patient QOL have not been studied sufficiently.

Objective: To investigate the association between disease severity and QOL in patients with harlequin ichthyosis (HI) and ichthyosis: syndromic forms (ISFs) METHODS: Clinical information of patients with HI and ISFs from 2010 to 2015 were obtained from 100 dermatology departments/divisions of principal institutes/hospitals throughout Japan. We examined the relationship between disease severity and QOL in patients with HI and ISFs. Patients who were aged 8 years or older and participated in a multicenter retrospective questionnaire survey in Japan were assessed by dermatology life quality index (DLQI, range of 0-30) and clinical ichthyosis score (range of 0-100).

Results: Netherton syndrome patients had a significantly higher risk of allergy to food or environmental allergens than patients with other phenotypes. Keratitis-ichthyosis-deafness (KID) syndrome patients showed a significantly higher risk of skin infections than patients with other phenotypes. Complete data on DLQI were obtained from 13 patients, whose median age was 21 (8-71) years. Nine patients were male, and 4 were female. Systemic retinoids were administrated to 2 of the 3 HI patients. The Spearman's correlation coefficient between the clinical ichthyosis score and DLQI was 0.611 (P < 0.05).

Conclusion: We confirmed that Netherton syndrome and KID syndrome patients have a higher risk of allergy to food or environmental allergens and of skin infections, respectively. QOL impairment correlates with disease severity in HI and ISFs patients.

Keywords: Clinical ichthyosis score; Congenital ichthyosis; Harlequin ichthyosis; Quality of life; Syndromic form ichthyosis.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Allergens / immunology
  • Child
  • Cross-Sectional Studies
  • Environmental Exposure / adverse effects
  • Female
  • Humans
  • Hypersensitivity, Immediate / epidemiology*
  • Ichthyosis, Lamellar / complications*
  • Ichthyosis, Lamellar / diagnosis
  • Japan / epidemiology
  • Keratitis / complications*
  • Keratitis / diagnosis
  • Male
  • Middle Aged
  • Netherton Syndrome / complications*
  • Netherton Syndrome / diagnosis
  • Quality of Life*
  • Retrospective Studies
  • Severity of Illness Index
  • Skin Diseases, Infectious / epidemiology*
  • Young Adult

Substances

  • Allergens

Supplementary concepts

  • Keratitis-Ichthyosis-Deafness Syndrome