Harlequin ichthyosis

Harlequin ichthyosis is a rare, severe genetic skin disorder present at birth. It causes thick plates of scale, deep skin fissures, tightness, and impaired skin-barrier function.

ABCA12: ABCA12 is a gene encoding a transporter that moves lipids into epidermal cells for skin-barrier formation. Biallelic pathogenic variants in this gene cause harlequin ichthyosis.
Neonatal intensive care: Neonatal intensive care provides specialized monitoring and treatment for critically ill newborns. Affected newborns often need close support for fluid balance, breathing, temperature, and infection prevention.
Ichthyosis: Ichthyosis is a group of disorders marked by persistent dry, thickened, or scaling skin. Harlequin ichthyosis is among the most severe inherited forms of this broader group.
Harlequin fetus: A harlequin fetus is a fetus or newborn with the characteristic armor-like plates and fissures of harlequin ichthyosis. The name describes the striking pattern of deep cracks dividing thick skin plates.
Lamellar granule: Lamellar granules are epidermal-cell organelles that deliver lipids and proteins to the skin surface. Defective ABCA12 disrupts lipid delivery by these organelles.
Emollient: An emollient is a topical substance that softens skin and reduces dryness by smoothing or supplementing surface lipids. Frequent application helps reduce fissuring and water loss from affected skin.
Autosomal recessive congenital ichthyosis: Autosomal recessive congenital ichthyosis is a group of inherited disorders causing widespread scaling from birth. Harlequin ichthyosis is its most severe clinical subtype.
Eclabium: Eclabium is outward eversion of the lips caused by tight surrounding skin. Facial tightness can pull the lips outward and interfere with feeding.
Skin barrier: The skin barrier is the outer epidermal system that limits water loss and blocks environmental threats. Its failure underlies dehydration, infection risk, and temperature instability in affected newborns.
Retinoid: Retinoids are compounds related to vitamin A that regulate cell growth and differentiation. Systemic retinoids may soften thick scale and improve mobility in severe cases.

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