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Summer 2018, Vol. 26 No. 2

Hong Kong J. Dermatol. Venereol. (2018) 26, 59-66


Review Article

Genodermatoses: a practical approach

遺傳性皮膚病:實用法則

MJA Koh 許仁安

Abstract

This article aims to provide the reader with a practical approach when evaluating a patient with a suspected genodermatosis. Three different clinical scenarios will be discussed, providing a clinical and investigative framework for the clinician.

本文旨在為讀者提供一種實用的方法來評估疑似遺傳性皮膚病的患者。通過討論三種不同的臨床情況,為醫生剖析當中臨床和檢測的框架。

Keywords: Epidermolysis bullosa, Genodermatoses, Ichthyosis, Next generation sequencing

關鍵詞: 大皰性表皮鬆解症、遺傳性皮膚病、魚鱗癬、次世代定序