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Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation

Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation

Pediatric Dermatology 31(2): E63-E64

A case of harlequin ichthyosis with compound heterozygous mutations in ABCA12 was successfully managed with intensive neonatal care and endotracheal intubation and without oral retinoids. The individual's appearance improved dramatically during hospitalization and at discharge resembled congenital ichthyosiform erythroderma.

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Accession: 053478924

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PMID: 24274932

DOI: 10.1111/pde.12263

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