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

• Published in: Acta dermato-venereologica 2021-06, Vol.101 (6), p.adv00477-adv00477
• Main Authors: Abeni, Damiano, Rotunno, Roberta, Diociaiuti, Andrea, Giancristoforo, Simona, Bonamonte, Domenico, Filoni, Angela, Schepis, Carmelo, Siragusa, Maddalena, Neri, Iria, Virdi, Annalucia, Castiglia, Daniele, Zambruno, Giovanna, Bodemer, Christine, El Hachem, May
• Format: Article
• Language: English
• Subjects: autosomal recessive congenital ichthyosis; congenital ichthyosiform erythroderma; dermatology life quality index; family burden of ichthyosis; harlequin ichthyosis; Investigative Report; lamellar ichthyosis
• ISSN: 1651-2057; 0001-5555; 1651-2057
• DOI: 10.2340/00015555-3822

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