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Harlequin ichthyosis is a severe form of congenital ichthyosis characterized by thick, armor-plate–like scale, fissuring, eclabium, ectropion, severely compromised barrier function, and a resulting high mortality rate. The early use of retinoid therapy has produced long-term survivors whose clinical course and characteristics have not been well defined. These authors used questionnaires, clinical records, and mutational analysis to help define the characteristics associated with survival.
Among 45 reported cases, the 56% who survived ranged in age from 10 months to 25 years. Of infants who received retinoid therapy, mostly acitretin, within 7 days of birth, 83% survived, compared with 27% of untreated infants.
Long-term clinical sequelae incl…