Burden of Inherited Ichthyosis: A French National Survey

Abstract

Moderate to severe ichthyosis is known to have a significant impact on quality of life. A French national survey was performed to describe in more detail how ichthyosis impacts the patients' lives. A questionnaire specifically dedicated to ichthyosis was distributed to patients followed in hospital expert centres or members of the French association of patients. A total of 241 questionnaires were completed and returned (response ratio: 29% for children and 71% for adults). A negative impact of ichthyosis was obvious in terms of domestic life (skin care, housework, clothing, etc.), educational/professional lives (rejections by other children, workplace discrimination, absenteeism, etc) and for leisures/sports activities. The patient's economical resources were also heavily impacted by ichthyosis with important out-of-pocket expenses.

An IL-17–dominant immune profile is shared across the major orphan forms of ichthyosis

“…Affected subjects have an extremely compromised quality of life because of disfigurement and the accompanying itching, pain, and functional limitation. 8,9 The epidermal barrier is abnormal, with defects in lipids and differentiation resulting in increased transepidermal water loss (TEWL). [10][11][12] Treatment for ichthyosis is largely supportive and unsatisfactory.…”

Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy

“…Autosomal recessive congenital ichthyosis (ARCI) represents a clinically and genetically heterogeneous group of disorders of epidermal cornification, 1 which have a major impact on quality of life and represent a serious burden on health systems. 2 Unfortunately, therapeutic options are limited for patients with ARCI, and mainly consist of topical treatments and retinoids. 3 We report the case of a 15-year-old girl with ARCI, who was treated with oral isotretinoin with a very good response.…”

Management of congenital ichthyoses: European guidelines of care, part one

“…Unpleasant smell or a very greasy consistency of ointments needs to be avoided. Finally, the preferences of the patients are decisive, considering that the therapeutic outcome is largely dependent on therapy compliance, as application of topical therapies is time consuming and demanding …”

“…The expenses that can be covered by national health systems and disability allowances vary greatly among European countries, but the expense of moisturizing creams is often the main contributor to the financial impact of the disease . Living with a child with CI may also be a difficult situation for parents because ichthyosis is a rare and not well‐known skin disease, the consequences of which are often underestimated by the medical profession and the general public.…”