PMID: 8949442Sep 1, 1996Paper

A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma

The British Journal of Dermatology
M HaftekD Schmitt

Abstract

Over the past 8 years, we have followed a child born as a harlequin baby, who survived due to treatment with retinoids. His condition evolved clinically towards the erythrodermic form of lamellar ichthyosis (non-bullous congenital ichthyosiform erythroderma, NBCIE). According to ultrastructural and biochemical criteria, our patient originally presented with type II harlequin ichthyosis. Investigations showed an abnormal keratinosome structure and extrusion, a keratin pattern characteristic for epidermal hyperproliferation, and an absence of conversion of profilaggrin to filaggrin. Persisting keratinocyte hyperproliferation, associated with the presence of a dermal infiltrate, is in agreement with the present clinical picture of severe NBCIE. However, abnormal lamellar body production and defective filaggrin processing, which is not one of the diagnostic criteria of NBCIE, persist in the patient's skin. Further studies of the epidermal lipid composition, and of possible mutations of the keratinocyte transglutaminase gene performed on epidermal cell cultures of harlequin ichthyosis, will be necessary before type II harlequin ichthyosis can be accepted as an extremely severe form of NBCIE.

References

Feb 1, 1979·Archives of Dermatology·M M BuxmanR L Dimond
Nov 1, 1991·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·M HaftekJ Thivolet
Nov 1, 1989·Journal of the American Academy of Dermatology·R M FleckR G Freeman
Sep 1, 1989·Pediatric Dermatology·M Rogers, C Scraf
Jan 1, 1982·Archives of Dermatology·H P BadenA Fletcher
Jul 1, 1965·Archives of Dermatology·R S Wells, C B Kerr

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Citations

Oct 8, 1999·Journal of Dermatological Science·M Akiyama
Nov 5, 1998·International Journal of Dermatology·M Akiyama
Oct 27, 2001·International Journal of Dermatology·S SinghS S Pandey
Nov 14, 2002·Journal of the European Academy of Dermatology and Venereology : JEADV·A Taïeb, C Labrèze
Jul 18, 2008·Human Molecular Genetics·Teruki YanagiHiroshi Shimizu
Dec 30, 2009·Journal of Perinatology : Official Journal of the California Perinatal Association·H B HarveyD S Morrell
Apr 9, 2013·Actas dermo-sifiliográficas·L Rodríguez-PazosJ Toribio
Sep 24, 2005·Experimental Dermatology·Peter M Elias, Eung Ho Choi
Feb 7, 2013·Dermatologic Therapy·John J DigiovannaJorge R Toro
Mar 10, 2005·American Journal of Human Genetics·David P KelsellEdel A O'Toole
Jun 13, 2014·Pediatric Dermatology·Hera Ahmed, Edel A O'Toole
Jun 27, 2007·The American Journal of Pathology·Yasuko YamanakaHiroshi Shimizu
Jun 9, 2004·Neonatal Network : NN·Laura Murphy-BrownPhylls Lawlor-Klean
Aug 16, 2005·The Journal of Investigative Dermatology·Peter M Elias

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