Harlequin Ichthyosis – Genetic and Dermatological Challenges: A Case Report and Literature Review

Abstract

Harlequin ichthyosis (HI) is an extremely rare and severe genetic skin disorder characterized by thick, diamond-shaped scales covering the body, often giving the appearance of a harlequin costume. This paper provides an overview of the genetic and dermatological aspects of HI, delving into its etiology, clinical manifestations, and management. The genetic underpinnings of HI involve mutations in the ABCA12 gene, leading to impaired skin barrier function and abnormal keratinization. Understanding the molecular basis of the disorder is crucial for accurate diagnosis and potential therapeutic interventions. Clinically, HI presents challenges related to skin integrity, thermoregulation, and potential complications, such as infections. The management of HI requires a multidisciplinary approach involving dermatologists, geneticists, and other healthcare professionals. Supportive care, including emollients, careful bathing, and prevention of infections, is essential to improve the quality of life for individuals affected by this condition. Despite its rarity and severity, advancements in medical research and genetic therapies offer hope for improved treatments and interventions. This paper aims to contribute to the collective understanding of HI, fostering ongoing research and compassionate care for those living with this unique and challenging dermatological condition. We presented a premature eutrophic harlequin baby, born at 32+ weeks of gestation via emergency C-section. A clinical diagnosis was established minutes after birth, based on the typical features of HI, from scaly skin, marked fissures, and limbs in flexion contractures to prominent eclabium and bilateral ectropion.

Keywords

• harlequin ichthyosis
• ectropionm
• scaly skin
• consanguinity
• abca12 gene