Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype

Journal of the American Academy of Dermatology
Anette BygumFlemming Brandrup

Abstract

Ichthyosis prematurity syndrome is a rare syndrome characterized by the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. We describe two siblings with ichthyosis prematurity syndrome. The index patient was born at gestational week 34. Immediately after birth he developed respiratory distress and needed intubation. Remarkable skin changes were noticed with universal red, edematous and desquamating, spongy skin giving an impression of excessive vernix caseosa. Marked regression of the edema and ichthyotic scaling was observed within a few weeks. The parents recalled that his elder sister had similar but milder skin changes and respiratory distress syndrome at birth. Ichthyosis prematurity syndrome was suggested and the diagnosis supported by electron microscopy of a skin biopsy specimen showing pathognomonic trilamellar membrane aggregations in the stratum corneum and stratum granulosum. Diagnosing this syndrome is important to reassure parents, obstetricians, and pediatricians about its benign course after complications in the perinatal period.

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Citations

Feb 15, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Songhua LiMinghao Jin
Oct 15, 2013·Biochimica Et Biophysica Acta·Meei-Hua Lin, Denis Khnykin
Sep 4, 2014·The Journal of Investigative Dermatology·Meei-Hua Lin, Jeffrey H Miner
Aug 4, 2012·Journal of the American Academy of Dermatology·Renata PradoAnna L Bruckner
Aug 23, 2011·Journal of the American Academy of Dermatology·Denis KhnykinFrode L Jahnsen
Jul 8, 2011·Journal de gynécologie, obstétrique et biologie de la reproduction·Y LoumouamouM-L Jacquemont
Jan 6, 2012·The Journal of Investigative Dermatology·Anna De BenedettoLisa A Beck
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Jun 23, 2011·Dermato-endocrinology·Denis KhnykinFrode Jahnsen
Sep 16, 2017·Journal of Perinatal Medicine·Pippa StapsMichèl A A P Willemsen
Jun 14, 2018·The British Journal of Dermatology·J Mazereeuw-HautierV Oji
Jan 25, 2020·Proceedings of the National Academy of Sciences of the United States of America·Haruka YamamotoAkio Kihara
Dec 16, 2020·International Journal of Dermatology·Hilal Al MandhariDenis Khnykin
Jun 3, 2021·Pediatrics in Review·Sneha ButalaQin Yao

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