Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings

The American Journal of Dermatopathology
Stéphanie Leclerc-MercierSylvie Fraitag

Abstract

Netherton syndrome (NS) is a severe genetic skin disorder, with often delayed or misleading clinical signs. The histological features of skin biopsies, usually described as a psoriasiform hyperplasia, have only been reported in isolated case reports or small case series. The aim of this study is to define, for the first time, the precise histological pattern of cutaneous lesions, in a large cohort of skin biopsies from confirmed NS patients. The study included 80 consecutive skin biopsies from 67 patients taken between January 1995 and June 2014. All were from confirmed NS patients with either a negative lympho-epithelial Kazal-type-related inhibitor (LEKTI) immunohistochemistry and/or molecular confirmation by identified mutation in SPINK5. In this cohort, the most frequent histological finding was also psoriasiform hyperplasia, but there were additional, less common, or previously unreported findings, including compact parakeratosis with large nuclei, subcorneum or intracorneum splitting, presence of clear cells in the upper epidermis or stratum corneum, dyskeratosis, dermal infiltrate with neutrophils and/or eosinophils, and dilated blood vessels in the superficial dermis. An early confirmation of the diagnosis of NS is esse...Continue Reading

References

Oct 1, 1958·A.M.A. Archives of Dermatology·E W NETHERTON
Jul 21, 2009·Journal of Cutaneous Pathology·S Leclerc-MercierS Fraitag
Oct 21, 2009·Journal of the European Academy of Dermatology and Venereology : JEADV·E GoujonP Vabres
Apr 27, 2012·The American Journal of Dermatopathology·Stéphanie Leclerc-MercierSylvie Fraitag
Mar 19, 2014·Journal of Dermatological Science·Akemi Ishida-Yamamoto, Satomi Igawa

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Citations

Jun 17, 2018·International Journal of Dermatology·Víctor A González-DelgadoJose M Martín
Nov 7, 2018·Pediatric Dermatology·Luke KillpackStuart Gildenberg
Apr 30, 2020·Experimental Dermatology·Andrew TouatiJouni Uitto
Nov 25, 2017·Expert Opinion on Therapeutic Patents·Feryel Soualmia, Chahrazade El Amri
Jun 20, 2020·The Journal of Investigative Dermatology·Verena Moosbrugger-MartinzSandrine Dubrac
Jun 25, 2019·Annales de dermatologie et de vénéréologie·M BachelerieM D'Incan
May 25, 2020·The Journal of Investigative Dermatology·Elena Chiticariu, Daniel Hohl
Jun 18, 2021·Journal of the European Academy of Dermatology and Venereology : JEADV·Qi WangYi-Ming Fan
Sep 21, 2021·The Journal of Allergy and Clinical Immunology·Claire BarbieuxAlain Hovnanian

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