Current Issue

Spring/Summer 2025, Vol. 32 No. 1

Hong Kong J. Dermatol. Venereol. (2025) 32, 42-50

Review Article

Genodermatoses: improving diagnostics and patient care

遺傳性皮膚病：診斷與病患照護之進展

YR Lee 李昱融, PC Lin 林培琪, HC Cheng 鄭慧卿, PC Hou 侯秉宸, CK Hsu 許釗凱, JA McGrath

Abstract

Genetic skin diseases (genodermatoses) are rare, clinically complex conditions which present both diagnostic and therapeutic challenges. Historically, diagnosis for most dermatologists often depended on clinical familiarity or clues from skin biopsy assessment by light, electron or immunofluorescence microscopy. With the advent of gene discovery in the 1990s, Sanger sequencing of candidate genes led to molecular diagnostics for a few disorders. However, the introduction of next generation sequencing in 2008 heralded a new era of diagnostic improvements. This review focuses on recent advances in diagnostics for genodermatoses, illustrating the beneficial impact on genetic counselling and treatments for patients and their families.

遺傳性皮膚病是一群罕見且臨床表現極為複雜的疾病，無論在診斷或治療上都構成重大挑戰。過去，多數皮膚科醫師主要依賴臨床經驗，搭配光學顯微鏡、電子顯微鏡及免疫螢光染色等皮膚切片檢查進行診斷。自1990年代起，隨著致病基因陸續被發現，桑格定序技術開始用於特定疾病的分子診斷。然而，2008年次世代定序技術的問世，開啟了基因診斷的新紀元。本文回顧近年來在遺傳性皮膚病診斷技術的重大進展，並透過臨床案例說明這些技術如何促進基因諮詢與個人化治療，進而提升患者及其家庭的整體照護品質。

Keywords: Genodermatoses, Next-generation sequencing, Personalised medicine, RNA sequencing. Whole exome sequencing, Whole genome sequencing

關鍵詞: 遺傳性皮膚病、次世代定序、個人化醫療、RNA定序、全外顯子定序、全基因體定序