Table of Content


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


YP Koh 許芸佩, JY Pan 潘君毅, MSL Ho 何春玲


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.


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