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Spring 2013, Vol. 21 No. 1

Hong Kong J. Dermatol. Venereol. (2013) 21, 27-30


Case Report

An unusual case of incontinentia pigmenti in a male neonate

男性新生兒中的色素失禁症罕有個案

YP Koh 許芸佩, JY Pan 潘君毅, MSL Ho 何春玲

Abstract

Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis classically described to be lethal in male foetuses. Few cases of male survivors have been reported in medical literature. Male survival is thought to be due to hypomorphic alleles, a 47, XXY karyotype or somatic mosaicism. We describe a case of a 2-week-old Chinese male neonate who presented at our centre.

色素失禁症,也被稱為布洛克–蘇茲貝格綜合徵是一種罕見的性聯顯性遺傳性皮膚病,在經典描述中對男性胎兒是致命的。據醫學文獻報導,男性倖存者非常之少。男性病者能存活的機轉包括有低表現量的等位基因,47,XXY核型及體細胞嵌合體。本報告描述了一位兩週大的華籍男性嬰兒的個案。

Keywords: Bloch-Sulzberger syndrome, genodermatosis, incontinentia pigmenti, NEMO gene

關鍵詞: 布洛赫-蘇茲貝格綜合徵、遺傳性皮膚病、色素失禁症、 NEMO基因