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Investigative Report

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

Damiano Abeni, Roberta Rotunno, Andrea Diociaiuti, Simona Giancristoforo, Domenico Bonamonte, Angela Filoni, Carmelo Schepis, Maddalena Siragusa, Iria Neri, Annalucia Virdi, Daniele Castiglia, Giovanna Zambruno, Christine Bodemer, May El Hachem
DOI: 10.2340/00015555-3822

Preview of fully accepted paper, still not published in any volume

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.

Significance

Autosomal recessive congenital ichthyoses are a group of severe and chronic genetic skin disorders. They manifest with generalized skin desquamation, thickening and redness, causing disfigurement and disability. Itch and pain are frequent. Treatment is based mainly on lifelong daily application of topical products. A multicentre Italian study was performed to evaluate disease impact on patients with autosomal recessive congenital ichthyoses and their families, using validated questionnaires. Patients’ quality of life, in particular aspects related to skin symptoms, feelings, and treatment problems, was significantly affected. Family burden particularly concerned psychological factors and work. The results can be used to improve care plans, including psychological support and therapeutic patient education.

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