Harlequin Ichthyosis in a Preterm Neonate: A Rare Case Report

Le résumé fourni par la source

A condition known as harlequin ichthyosis appears rarely, marked by intense abnormalities in skin development due to inherited changes in the ABCA12 gene. This leads to major issues with the outer layer of skin, forming hard, plate-like coverings split by wide cracks. Features include turned-out eyelids, lips pulled back, and stiff joints in arms and legs; survival rates at birth remain low because of complications. A baby boy born before full term showed clear signs matching this diagnosis immediately after delivery. Earlier scans during pregnancy, specifically in the last 3 months, revealed widespread thickened skin, abnormal eye positioning, an always-open mouth, joint stiffness, and dense particles floating in the womb fluid. Following birth, thickened skin patches covered much of the newborn's body, accompanied by fused digits, fluid loss, and low body temperature. Within a moist environment inside an enclosed warmer, treatment unfolded through moisturizing agents, hydration via vein access, infection prevention with medication, alongside eye protection. Gene testing remained absent, blocked by cost-related barriers. Awareness at onset, strong support during initial days, coordination across specialties-these shaped progress, especially where tools and funds run short.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.