A Clinical Study on Genodermatoses and their Effect on Quality Of Life: Prospective Observational study in a Tertiary Care Hospital

BACKGROUND: Genodermatoses or genetic diseases of the skin are a group of inherited disorders with mostly monogenetic abnormality and few are polygenetic and conglomeration of cutaneous and systemic signs and symptoms. The rarity of the conditions and lack of awareness are major obstacles in the management and the planning of research in this subspeciality. So this study is aimed at studying genetic dermatological conditions and quality of life assessment. AIM OF THE STUDY: To estimate the prevalence,clinical profile, system involvement, complications,functional impairments and quality of life of the patients of various genodermatoses METHODS: Our study was a prospective observational study conducted in Dermatology OPD/IPD in Tirunelveli Medical College from January 2018 to December 2018 for a period of one year where we recruited about 49 patients.They were examined to identify the patterns of genodermatoses and Dermatology Life Quality Index (DLQI) Questionarrie was given to them to assess the quality of life. RESULTS: The total number of cases were 49 with a prevalence of 32 per 1000 with a M : F ratio of 1.45 : 1. Most common diseases groups were inherited of cornification (43%) followed by hamartoneoplastic syndromes (22%), genetic pigmentary disorders (10%) and rare diseases like harlequin ichthyosis, aplasia cutis congenita and cornelia de lange syndrome were also observed Among the inherited disorders of cornification most common disorders were ichthyosis vulgaris, lamellar ichthyosis and naxos syndrome. The most common domain affected was “symptoms and feelings” in 83%, followed by “daily activities” (72.%), leisure (58%), personal relationships (47%), treatment (42%), work and school (14%). About 33.3% had moderate effect of their diseases on quality of life followed by small effect in 30.6% and very large effect in 19.4% of patients.Quality of life was most affected in diseases like ichthyoses, neurofibromatosis and junctional epidermolysis bullosa. CONCLUSION: Ichthyosis vulgaris is the most common disease followed by tuberous sclerosis and neurofibromatosis. Genodermatoses patients and their parents should be counseled about the chronic nature of the disease, familial involvement, associated system involvement and available treatment options because they also have an impact on their quality of life. Early diagnosis and early intervention can reduce the deformities, improve the quality of life and their performance in school. Genetic analysis was not done in our patients to confirm the diagnosis which can be a platform for further research purposes and steps have been for that