Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review

Abstract

Background Since the beginning of human genetic research, there are very few publications sharing insights of the negative impact of rare genetic skin diseases (RGSD) on patients’ experiences. This systematic review assessed the psychosocial implications of these conditions in terms of daily life experiences, emotional state, self-perception, and Quality of Life (QoL). Methodology A systematic review was carried out on albinism, neurofibromatosis type 1 (NF1), birthmarks and inherited ichthyosis. The PubMed, Scopus, PsycArticle, PsychInfo, Psychology and Behavioral Sciences Collection, and SOCindex databases were queried. Inclusion criteria were adult patients with one of these RGSDs. Simple descriptive statistics and qualitative content analysis were conducted to summarize the main results reported by the authors. Results Of the 9987 articles retrieved, 48 articles were included: albinism (16), NF1 (16), inherited ichthyosis (10), birthmarks (6). The majority of the studies on albinism were conducted in Africa. Twenty-seven studies quantitatively assessed diverse psychological parameters: 13 showed a significant impact of the disease on QoL, five on emotional state, two on self-representation and two others on psychiatric comorbidities. Disease severity and visibility were good predictors of QoL (except for albinism). Body image and appearance concerns were also associated with QoL and emotional state. The 19 qualitative studies highlighted recurring themes across each of these diseases: discrimination and stigma during childhood and adolescence, discomfort in social interactions, guilt of transmission, the importance of social support from family and friends, altered daily life functioning, altered romantic and sex life, limited academic and professional aspirations, lack of interest and support from the medical field, and the unpredictability of the evolution of the disease. The only two mixed-method studies in this review were unable to contribute to any inferential analyses but could corroborate some of the qualitative findings. Conclusion These results showed that RGSDs have a significant impact on different aspects of patients’ lives. This review has demonstrated that there is a real need for support systems for patients with these diseases. Such systems should be developed to provide them with necessary information and to guide them through an appropriate care pathway.

The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism

“…Firstly, the themes we obtained align with the findings of a systematic literature review we conducted on the psychosocial implications of rare genetic skin diseases, including albinism [ 69 ]. We have found themes related to stigma and discrimination during childhood and adolescence, the importance of social support, genetic inheritance concerns, altered everyday functioning (e.g., mobility, skincare), difficulties with some healthcare providers, misconceptions and stereotypes in society, and a wide range of coping strategies.…”

Quality of life in patients with neurofibromatosis type 1: a nationwide database study in Japan from 2015 to 2019

“…Furthermore, moderate or severe impairment of physical health-related components of QoL were significant only for those aged 60 years or older, whereas moderate impairment of subjective and mental health-related components of QoL were significant for those aged 20–39 and 40–59 years, relative to those aged 19 years or younger. A systematic review [ 8 ] reported that NF1 can affect psychological well-being in patients, with more pronounced negative effects (e.g., depressive symptoms) on women than on men [ 19 ]. This may be due to the negative impact of NF1, such as cosmetic disfigurement, negative body image, and appearance-related concerns [ 20 , 21 ].…”

“…Although detailed information about neurological symptoms was not included in the national database, progressive neurological symptoms, especially paralysis and pain, may more strongly deteriorate multiple components of QoL than other symptoms/lesions in patients with NF1. According to a previous systematic review [ 8 ], one of the most important characteristics of NF1 is the presence of acute/chronic pain and physical discomfort [ 22 ]. Neurological symptoms can disturb sleep and daily functioning and increase fatigue, leading to deterioration of “mobility,” “self-care,” and “usual activities” (e.g., job, studying) in patients with NF1.…”

Secondary psychiatric disorders and the skin

“…That why is important to discuss of psychological effects associated with albinism and explore the psychosocial challenges faced by individuals with albinism. Patients with albinism need an early intervention, support systems, and inclusive policies to promote their well‐being and QoL 28,29 …”

“…Patients with albinism need an early intervention, support systems, and inclusive policies to promote their well-being and QoL. 28,29 Biology of skin. Pigments and melanocites.…”