Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers

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Abstract

Atopic dermatitis (AD) has a big impact on quality of life. The usefulness of health-related quality of life questionnaires for children with AD in general practice, and the relationship of quality of life to disease severity, as assessed by parents and by investigators, however, is not known. This study used the Infants' Dermatitis Quality of Life Index (IDQoL) to assess quality of life in children with AD selected from general practice. Severity of AD was determined by investigators and parents using the objective SCORAD (SCORing Atopic Dermatitis), the TIS (three-item severity scale), or by an additional question on the IDQoL. A total of 66 patients (41% boys, mean age 31 months) were included. Correlations between disease severity assessed by parents and by investigators were low (R-s 0.29-0.51). Correlations between IDQoL and severity assessed by investigators were also low (R-s 0.08-0.36). However, correlations between IDQoL and severity according to parents were high (R-s 0.67-0.73). In conclusion, disease severity and disease-related quality of life are different aspects of AD and must be taken into consideration when evaluating treatment or investigating new dermatological therapies in trials.
Original languageEnglish
Pages (from-to)adv00038-2
Number of pages2
JournalActa Dermato-Venereologica
Volume100
DOIs
Publication statusPublished - 2020

Keywords

  • CARMIL2
  • RLTPR
  • dermatitis
  • eosinophilic gastroenteritis
  • immunological deficiency syndromes

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