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

BACKGROUND: To date, almost no research on the psychosocial implications of albinism has been conducted in France and an exploration of albinism-related experiences could be beneficial, in order to better understand this condition. The aim of this study was to examine how French people with albinism and their parents live with and adapt to this condition in all the areas of their lives. METHODS: Semi-structured phone interviews were conducted with 9 parent-child dyads, each participating separately. Participants were recruited by convenience sampling, thanks to the combined efforts of a patient association (Genespoir) and professionals from the partner medical referral centers involved in the project. Dyads in which the individual with albinism had any comorbidity were excluded. The interviews were then transcribed and subjected to in-depth thematic analysis. Two codebooks were constructed in a mirrored process: one for people with albinism; the other for their parents. They were finally merged at the end of the coding step. RESULTS: Four main categories were identified: personal perceptions and social representations of albinism, difficulties and obstacles encountered by people with albinism, resources and facilitators, and the importance of parent-child functioning. The results indicated that experiences of stigmatization during childhood and adolescence are common and that people with albinism face challenges in adapting to certain obstacles related to their visual impairments (VI) (e.g., inability to drive a car; eye strain...). Parents emerged as one, if not as the main, source of support for people with albinism throughout their development. Although external support systems exist to assist them in various aspects of their lives, some of them primarily rely on their own personal resources to cope. CONCLUSIONS: This research highlights the importance of a systemic and transdisciplinary approach to make sure families receive the support that best meets their needs.

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.

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.

Hernografia perineal primaria libre de tension: presentacion de un caso / Primary tension-free perineal hernia repair, case presentation

Presentamos un paciente con hernia perineal primaria posterior que fue operado por vía abdominal con una técnica libre de tensión. Se encontraron asociadas hernias inguinocrurales bilaterales recidivantes que fueron tratadas por la técnica de Stoppa. El material protésico utilizado fue el mersilene. Se revisa la bibliografía disponible de esta rara enfermedad