# Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

## TL;DR

This review explores genetic disorders affecting pigmentation, explaining their molecular causes and clinical effects on skin, eyes, and other systems.

## Contribution

The paper provides a comprehensive overview of both hypopigmentary and hyperpigmentary genetic disorders, linking molecular mechanisms to clinical outcomes.

## Key findings

- Hypopigmentary disorders like oculocutaneous albinism result from mutations affecting melanin production and transport.
- Hyperpigmentary conditions such as dyschromatosis symmetrica hereditaria involve distinct genetic pathways and clinical features.
- RASopathies demonstrate how pigmentary abnormalities can co-occur with multisystem developmental issues.

## Abstract

Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ocular, auditory, and systemic manifestations. This review examines the molecular mechanisms underlying major genetic pigmentary disorders, including hypopigmentary (e.g., oculocutaneous albinism, piebaldism, and Waardenburg syndrome) and hyperpigmentary (e.g., dyschromatosis symmetrica hereditaria, dyschromatosis universalis hereditaria, reticulate acropigmentation of Kitamura, and Dowling–Degos disease) disorders. Additionally, we discuss RASopathies, in which pigmentary abnormalities occur alongside multisystem developmental anomalies. Comprehensive understanding of these conditions can provide crucial insights into melanocyte biology and guide future clinical management strategies for affected patients.