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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Perinatal management of harlequin ichthyosis: a case report and literature review

Journal of Perinatology volume 30, pages 66–72 (2010)Cite this article

Abstract

Harlequin ichthyosis (HI) is a rare and severe form of congenital ichthyosis. Linked to deletion and truncation mutations of a keratinocyte lipid transporter, HI is characterized by diffuse epidermal hyperkeratinization and defective desquamation. At birth, the HI phenotype is striking with thick hyperkeratotic plate-like scales with deep dermal fissures, severe ectropion and eclabium, among other findings. Over the first months of life, the hyperkeratotic covering is shed, revealing a diffusely erythematous, scaly epidermis, which persists for the remainder of the patient's life. Although HI infants have historically succumbed in the perinatal period related to their profound epidermal compromise, the prognosis of HI infants has vastly improved over the past 20 years. Here, we report a case of HI treated with acitretin, focusing on the multi-faceted management of the disease in the inpatient setting. A review of the literature of the management of HI during the perinatal period is also presented.

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Authors and Affiliations

  1. Department of Dermatology, University of North Carolina, Chapel Hill, NC, USA

    H B Harvey, M G Shaw & D S Morrell

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  1. H B Harvey
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  2. M G Shaw
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Correspondence to M G Shaw.

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Harvey, H., Shaw, M. & Morrell, D. Perinatal management of harlequin ichthyosis: a case report and literature review. J Perinatol 30, 66–72 (2010). https://doi.org/10.1038/jp.2009.100

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