色素失調症合併網膜玻璃體病變－壹男性病例報告

Proliferative Retinopathy Associated with Incontinentia Pigmentl-A Male Case Report

楊熹明(Hsi-Ming Yang) ； 方憲瑞(Sein-Ray Fang)

《中華民國眼科醫學會雜誌》 32卷4期 (1993/12) Pp. 496-501

https://doi.org/10.30048/ACTASOS.199312.0017

摘要

色素失調（失禁）症，又稱為Bloch-Sulzberger症候群，為一少見的先天性X染色體異常引起之皮膚病變，經常合併眼部、中樞神經、牙齒、骨骼等部位之異常，絕大多數發生於女性，於男性造成死產。馬偕醫院台東分院眼科報告一例罕見之男性活產色素失調症病例，右眼合併有網膜玻璃體病變、網膜血管病變。雖經冷凍治療，獲得暫時緩解，仍然進展至全網膜剝離、瘢痕化纖維增生而至眼球癆，左眼大致正常。皮膚切片檢查顯示符合診斷之水疱期、疣狀丘疹期、色素期之變化。血液檢查呈嗜伊紅白血球數大量增加。牙齒呈尖錐畸型。染色體檢查為正常，其他實驗診斷數據正常。本病例為國內第一例男性病例，合併有網膜玻體病變之報告。

並列摘要

Incontinentia Pigmenti (Bloch-Sulzberger syndrome, IP) is an uncommon inherited genodermatosis that generally affects female infants and lethal to the male. The disease is also characterized by a triphasic cutaneous eruption, dental anomalies, and central nervous system defects. Ocular defects such as strabismus, microphthalmia, pseudoglioma, retinal detachment and optic nerve atrophy are also commonly seen. The authors report an unusual full-termed baby with male gender diagnosed as incontinentia pigmenti. The characteristic triphasic skin lesion was seen since birth which proved by skin biopsy. Trainsient significant eosinophilia was shown on his hemogram as well. Prominent ROP-like vitreoretinal proliferative changes were revealed under indirect ophthalmoscopic examination on his right eye. Vitreous and preretinal hemorrhage, engorged tortuous vessels with prominent AV connections, and avascular area around the mid-peripheral retina associated with abnormal pigmentary changes were noted as well. The left eye was essentially normal. Dense fibrotic traction band developed in the right eye which progressed to total retinal detachment in spite of cryotherapy on the avascular area of retina. This eye eventually turned into phthisis bulbi. No family history of IP ws noted. The chromosome typing of this boy is normal. We reported the first survived male case of incontinentia pigmenti associated with proliferative retiopathy in Taiwan literature.

並列關鍵字

Incontinentia Pigmenti Bloch-Sulzberger syndrome ； Vitreoretinopathy ； cryotherapy