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

Area of Science:

• Dermatology
• Genetics
• Epidemiology

Background:

• Genodermatoses are inherited skin disorders with potential systemic involvement.
• Limited studies exist on genodermatoses prevalence in India.
• Consanguinity in Northern India may increase rare genetic conditions.

Purpose of the Study:

• To evaluate the types and prevalence of genodermatoses in the Kashmir valley.
• To analyze inheritance patterns and clinical manifestations.
• To assess the role of consanguinity in genodermatoses.

Main Methods:

• Retrospective analysis of 154 genodermatoses cases over 3 years.
• Data collection on patient demographics, clinical presentation, and family history.
• Clinical evaluation and diagnosis in the absence of genetic testing.

Main Results:

• Prevalence of genodermatoses was 0.96 per 1000 new OPD cases.
• Disorders of keratinization (42.4%) and mechano-bullous disorders were most common.
• Consanguinity was present in 53.8% of cases; recessively inherited disorders were more frequent than dominant ones.

Conclusions:

• A wide spectrum of genodermatoses exists in Kashmir.
• Consanguinity contributes to recessively inherited disorders, but dominant forms are also significant.
• Clinical evaluation is crucial for diagnosis and determining inheritance patterns.