# Harlequin Ichthyosis: A Case Report

## TL;DR

This paper reports a case of Harlequin ichthyosis, a rare genetic skin disorder, and highlights the importance of early care and management for better outcomes.

## Contribution

The paper contributes a detailed case report emphasizing the need for multidisciplinary care in managing Harlequin ichthyosis.

## Key findings

- Early recognition and neonatal care are crucial for improving survival in Harlequin ichthyosis.
- Multidisciplinary management helps in effectively managing symptoms and enhancing quality of life.
- Treatment strategies focus on hydration, infection prevention, and supportive care.

## Abstract

Harlequin ichthyosis (HI) is a genetic disorder caused by ABCA12 gene mutations, presenting with thick, scaly skin and deep fissures. Early recognition, intensive neonatal care, and multidisciplinary management are crucial for improving survival and quality of life. Treatment focuses on skin hydration, infection prevention, and supportive care to manage symptoms effectively.