Investigating the Prevalence, Gender Predilection, and Inheritance Patterns of Genodermatoses: A Tertiary Hospital Study

TL;DR

This study examines the frequency, gender bias, and inheritance of hereditary skin disorders at a tertiary hospital, finding a 0.067% prevalence with a male predominance.

Contribution

The study provides new epidemiological data on genodermatoses, including gender and inheritance patterns in a large outpatient population.

Findings

Genodermatoses had a prevalence of 0.067% among dermatology patients.

Neurofibromatosis type 1 and tuberous sclerosis complex 1 were the most common subtypes.

A 2:1 male-to-female ratio and autosomal dominant inheritance were predominant.

Abstract

Genodermatoses encompass a spectrum of hereditary skin disorders stemming from mutations in genes pivotal for skin development, structure, and function. This study investigated the prevalence, gender predilection, and inheritance patterns of genodermatoses in a tertiary-level hospital through a one-year observational study. Among 157,051 dermatology outpatient department patients, 105 cases of genodermatoses were diagnosed, yielding a prevalence rate of 0.067%. Hamartoneoplastic syndromes and inherited disorders of cornification were the most prevalent subgroups, with neurofibromatosis type 1 and tuberous sclerosis complex 1 leading within these categories. The average age at presentation varied among different subgroups. A 2:1 male-to-female ratio was observed across all subgroups. Autosomal dominant inheritance was predominant. A positive family history in 46 cases and consanguinity among parents in 28 instances was reported. Genodermatoses pose diagnostic challenges due to their clinical complexity and rarity, which is compounded by limited epidemiological data. Molecular diagnosis advancements offer insights into genotype-phenotype correlations and facilitate genetic counseling and prenatal diagnosis (PND). Raising awareness among healthcare professionals and the public is critical for improving the quality of life for affected individuals.

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