A Unique Case of Harlequin Ichthyosis in the Tertiary Health Care System in a Rural Area.

Harlequin ichthyosis (HI) is a severe and rare genetic anomaly that affects skin development and leads to the formation of thick, diamond-shaped plates of keratinized skin. The adenosine triphosphate binding cassette A 12 (ABCA12) gene, which is essential for the transportation of lipids required for the skin's barrier function, has mutations that result in this condition. The affected individuals exhibit distinct clinical features, including thickened skin, deep cracks, and fissures, which can result in significant physical and functional impairments. HI is usually apparent at birth, with affected infants presenting with tight and rigid skin that restricts movement and normal growth. The condition is associated with various complications, including difficulty breathing, feeding difficulties, and increased susceptibility to infections. Due to the impaired skin barrier, affected individuals are also prone to dehydration and temperature dysregulation. In this case report, we present a unique case of ichthyosis in a nine-month-old child. Despite advances in medical care, HI remains a challenging condition with a high mortality rate, particularly in the neonatal period. However, with early detection, appropriate interventions, and an improved understanding of the underlying molecular mechanisms, there is hope for enhanced management and improved quality of life for individuals living with HI.

Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder.

Chanarin-Dorfman syndrome (CDS) is a rare medical condition that is inherited in an autosomal recessive pattern. In CDS, a comparative gene identification-58 gene mutation causes the accumulation of triglycerides in neutrophils, which can be observed as vacuoles on a peripheral smear. CDS patients present with a characteristic dermatological finding, ichthyosis, which is a non-bullous white scaling of the skin. Here, we describe a case report of a one-year-old boy who presented to the pediatric outpatient department (OPD) with chief complaints of peeling of the skin and ballooning of the abdomen since birth. Our patient had achieved all the developmental milestones pertaining to his age. Genetic testing was positive for heterozygous alleles in both parents.