Arch Dermatol
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Case Reports Multicenter Study
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these patients. ⋯ Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal. With improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing. Compound heterozygotes appear to have a survival advantage.