The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study

Abstract

Autosomal recessive congenital ichthyoses (ARCI) are characterized by generalized skin scaling, hyperkeratosis, erythroderma, and disabling features affecting the skin (palmoplantar keratoderma, fissures, pain, itch), eyes, ears, and joints. Disease severity and chronicity, patient disfigurement, and time and costs required for care impose a major burden on quality of life. This multicentre cross-sectional study investigated the impact of ARCI on quality of life of patients and families, using the Dermatology Life Quality Index (DLQI), the Children DLQI (CDLQI) and Family Burden of Ichthyosis (FBI) questionnaires. Disease severity was assessed by a dermatologist. A total of 94 patients were recruited, of whom 52 (55.3%) children. Mean age was 20.1 (median 13.5) years. The mean CDLQI/DLQI score was 7.8, and 21 patients scored >10, indicating a major impairment in quality of life: symptoms, feelings and treatment problems were the most affected domains of quality of life. FBI showed a major repercussion on psychological factors and work. The results of this study highlight the impact of ARCI on specific aspects of patient and family life, underlining the need for psychological support.

Keywords: Dermatology Life Quality Index; Family Burden of Ichthyosis; congenital ichthyosiform erythroderma; harlequin ichthyosis; lamellar ichthyosis; autosomal recessive congenital ichthyosis.

Fig. 1

Mean, and 95% confidence intervals (CI), for the Dermatology Life Quality Index (DLQI) questionnaire single-item scores.

Fig. 2

(A) Means and 95% confidence intervals (95% CI), for the scores of the 5 scales of the Family Burden of Ichthyosis (FBI) questionnaire. (B) Mean and 95% CI for the scores of the 5 scales of the FBI questionnaire, by clinical diagnosis (lamellar: lamellar ichthyosis; erythrodermic: congenital ichthyosiform erythroderma).