Invisible Challenges of a Visible Disease: A Qualitative Study on Disease-related Impairment, Participation Barriers and Care Experiences in Adults with Ichthyosis.

Abstract

Ichthyoses are rare genodermatoses characterized by scaling, hyperkeratosis, and barrier dysfunction, often accompanied by hypohidrosis and pruritus. Beyond visible symptoms, ichthyosis imposes substantial psychosocial, financial, and time-related challenges. This qualitative study explored patient-perceived impairments, disability, and experiences with medical and social care. Semi-structured interviews were conducted with 18 adults (13 women, 5 men; aged 18-67 years) with various ichthyosis subtypes, recruited from two specialized dermatology clinics in Germany and the patient organization Ichthyosis e.V. Reflexive thematic analysis showed that participants' daily lives were influenced not only by symptoms and time-consuming care routines but also by social and structural factors limiting participation in various life domains. Participants reported inequalities in education and employment, rejection during job seeking and at work. This can lead to social anxiety, depression, and negative self-image. Psychological strain also arises from limited treatment options and financial strain. Perceptions of disability vary, though many seek formal recognition. The impact of ichthyosis is often underestimated by healthcare professionals, complicating access to social and medical support. Dermatologists should recognize the crucial role of their diagnosis and documentation and carefully guide patients through the healthcare system to ensure appropriate socio-medical support.