Netherton-Syndrom

Zusammenfassung

Wir präsentieren einen didaktisch sehr wertvollen Kasus des klinischen Vollbildes eines Netherton-Syndroms. Klinisch präsentierte sich ein 9-jähriges Mädchen mit therapierefraktären ekzematösen Hautveränderungen, Trichorrhexis invaginata und dem histologisch nachweisbaren Verlust der Expression von LEKTI in läsionaler Haut. Klinische Befunde werden präsentiert und ein Überblick über die Erkrankung wird gegeben.

Abstract

We present a didactically very valuable case of a Netherton syndrome. Clinically, a 9-year-old girl presented with refractory eczematous skin changes, trichorrhexis invaginata, and the histologically detectable loss of LEKTI expression in lesional skin. Clinical findings are presented and an overview of the disease is given.

• Literatur

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