Clinicoepidemiologic Profile of Genodermatoses: A Tertiary Hospital-Based Observational Study from North India.

Genodermatoses are inherited skin disorders associated with manifestations pertaining to both cutaneous and systemic involvement. Most of these disorders are associated with systemic conditions leading to mortality and morbidity. Only few studies have been reported from India. Since there is predominance of consanguineous marriage in northern part of India, very rare disorders are seen but have been under-reported. The present study was done to evaluate the different types of genodermatoses present in population of Kashmir valley, India. The study included total 154 cases of genodermatoses seen over a period of 3 years. Prevalence of genodermatoses was 0.96 per 1000 new OPD cases. Male to female ratio was 1.26:1. Age ranged from 2 days to 56 years with Median age of 7 years. The disorders of keratinisation constituted major group with 67 (42.4%) cases. Mechano-bullous disorder was second most common group seen. Consanguinity in parents was found in 83 (53.8%) of cases while 71 (46.1%) had non-consanguineous marriage in parents. Positive family history was noted in 61 (39.6%) number of cases while as 93 (60.3%) had no positive family history. Recessively inherited disorders were more than dominantly inherited disorders. Predominant or only cutaneous manifestations were seen in 124 (80.5%) cases while 30 (19.4%) patients had extracutaneous associations. In conclusion, a wide spectrum of disorders were seen in our study. Though consanguinity attributes to the presence of recessively inherited disorders but dominant disorders are seen in significant proportion. In absence of genetic testing, proper history and clinical evaluation help in establishment of diagnosis and mode of inheritance in majority of cases.