Harlequin ichthyosis

Full Definition

Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis, caused by mutations in the ABCA12 gene. Affected newborns present with thick, armor-like scales covering the entire body, severe ectropion and eclabium, and restricted movement. The condition requires immediate intensive care management and has historically had poor prognosis, though survival rates have improved with modern neonatal care and systemic retinoids.

In Context

• "The neonate with harlequin ichthyosis required immediate transfer to the NICU for specialized dermatologic and respiratory support." — Hospital transfer notes
• "Early treatment with systemic retinoids has significantly improved outcomes for infants with harlequin ichthyosis." — Medical literature review