Case Study - 77 "Harlequin Ichthyosis: Causes, Symptoms, and Management | Genetic Skin Disorder."

In this video, Sanjay Gupta, a 2nd-year MBBS student, presents a clinical case study on Harlequin Ichthyosis. We'll cover:

Causes and genetic basis of Harlequin Ichthyosis

Key symptoms and diagnostic approaches

Treatment strategies and supportive care

This case study aims to provide valuable insights into Harlequin Ichthyosis for your medical education and professional growth. Don't forget to like and subscribe for more educational content!

Harlequin Ichthyosis Overview

1. Cause:

A rare genetic disorder caused by ABCA12 gene mutations, affecting skin barrier function. It is inherited in an autosomal recessive pattern.

2. Symptoms:

Thick, hard skin plates with deep cracks at birth, restricted movement, feeding challenges, and high risk of infections and dehydration.


3. Laboratory Findings:

Confirmed through genetic testing for ABCA12 mutations. Skin biopsies may reveal abnormal lipid transport.

4. Treatment:

Intensive moisturizing with emollients.

Antibiotics to prevent infections.

Retinoids like acitretin to reduce skin thickness.

Multidisciplinary care is essential for survival.

Though life-threatening at birth, early care improves outcomes.

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