Pediatrics. 1988 Dec;82(6):870-3.

Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma.

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Coventry and Warwickshire Hospital, England.

Abstract

The term harlequin fetus is used to describe the most severe form of congenital ichthyosis. All except one previously reported patient died during the first few weeks of life. The development of one such fetus to the age of 2 years 6 months is reported, along with a photographic record of progress. Details of the progress of another harlequin fetus to 6 months of age are given. The clinical diagnosis of the former patient is nonbullous ichthyosiform erythroderma.

PMID:: 3186377; [PubMed - indexed for MEDLINE]

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Long-term survival of a harlequin fetus. [J Am Acad Dermatol. 1989]
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Cited by 2 PubMed Central articles

Review Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. [Hum Mutat. 2009]
Review Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. Hum Mutat. 2009 Apr; 30(4):537-47.
Review Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. [J Lipid Res. 2008]
Review Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.
Elias PM, Williams ML, Holleran WM, Jiang YJ, Schmuth M. J Lipid Res. 2008 Apr; 49(4):697-714. Epub 2008 Feb 2.

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