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Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation
Author(s) -
Koochek Arash,
Choate Keith A.,
Milstone Leonard M.
Publication year - 2013
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12263
Subject(s) - medicine , ichthyosis , erythroderma , congenital ichthyosis , intubation , dermatology , pediatrics , surgery
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.