Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome

Clinical and Experimental Dermatology
E SprecherG Richard

Abstract

The congenital erythrodermas represent a heterogeneous group of inherited and acquired disorders often accompanied by systemic infections, impaired epidermal barrier function and concomitant life-threatening fluid and electrolyte imbalance. In the present report, we describe a patient who was considered to have congenital ichthyosiform erythroderma for 26 years until molecular testing led to the correct diagnosis of Netherton syndrome.

References

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Citations

Apr 7, 2007·Archives of Dermatological Research·Shuan-Pei LinGuey-Jen Lee-Chen
Jan 25, 2013·Cell and Tissue Research·Alain Hovnanian
Feb 16, 2007·Pediatric Dermatology·Caroline P HalverstamSusan Bayliss Mallory
May 4, 2006·European Journal of Pediatrics·Gurkan KilicPinar Guzel
Oct 6, 2014·The Journal of Allergy and Clinical Immunology·Liat Samuelov, Eli Sprecher
Dec 16, 2005·The American Journal of Chinese Medicine·Chi-Feng LiuSong-Chow Lin
Dec 9, 2017·Clinical and Experimental Dermatology·A H TatianD F Sebaratnam
Dec 3, 2016·Molecular Diagnosis & Therapy·Constantina A SarriZissis Mamuris
Feb 4, 2021·Molecular Genetics & Genomic Medicine·Dillon MintoffJudith Fischer

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