Abstract

HARLEQUINN ICTHYOSIS: A CASE BASED ON GENETIC SKIN DISORDER

Mr. Om Shivaji Parte* Mr. Rahul Pawar, Mr. Sampat Bangar, Ms. Rucha Pandit, Ms. Darshana Mainkar, Mrs. Rohini Vichare

Abstract

Harlequin Ichthyosis (HI) is an exceptionally rare and severe genetic skin disorder that manifests at birth. This condition arises from a mutation in the ABCA12 gene, which is crucial for the formation of the skin's protective barrier. When this gene malfunctions, skin cells fail to shed properly, resulting in the emergence of thick, hard scales that envelop the body. The term "Harlequin" is derived from the diamond-shaped cracks that develop between the thick skin plates, resembling the attire of a harlequin clown. Newborns affected by this condition exhibit extremely tight and thick skin, which can limit movement and lead to deformities such as ectropion (where the eyelids turn outward), eclabium (where the lips protrude), and flattened facial features. Due to the compromised skin barrier, these infants face a heightened risk of dehydration, infections, and respiratory complications. Without prompt medical intervention, the condition can become life-threatening. Diagnosis typically occurs at birth based on physical characteristics and is confirmed through genetic testing. In families with a history of this disorder, prenatal diagnosis via amniotic fluid analysis can detect the gene mutation prior to birth. Treatment primarily focuses on supportive care to maintain skin hydration and prevent infections. Oral retinoids, like isotretinoin, are utilized to reduce skin thickness and enhance survival rates. With the progress in medical treatments, many children diagnosed with Harlequin Ichthyosis can now lead longer lives. In summary, while Harlequin Ichthyosis is a serious genetic disorder, early detection, appropriate treatment, and ongoing care can significantly enhance the quality of life for those affected.

Keywords: Treatment Primarily Focuses on Supportive Care to Maintain Skin Hydration And Prevent Infections.