色素失禁症－病例報告

Incontinentia Pigmenti-A Case Report

蔡三章(San-Chang Tsai) ； 廖士傑(Shih-Jye Liau) ； 劉榮宏(Jorn-Hon Liu) ； 宋文舉(Wen-Jue Soong)

《中華民國眼科醫學會雜誌》 33卷3期 (1994/09) Pp. 415-423

https://doi.org/10.30048/ACTASOS.199409.0019

摘要

色素失禁症是一種罕見的皮膚遺傳疾病，通常發生在女性，除了皮膚以外還可能出現眼睛，牙齒，骨骼，以及中樞神經系統的異常。
我們報告一個六週大的女性病例，皮膚出現典型的症狀，經病理切片證實為色素失禁症；另外眼睛的視網膜血管以及中樞神經系統都出現異常的現象。
其視網膜血管的變化與早產兒視網膜病變的血管變化非常相似。

並列摘要

Incontinentia pigmenti is a rare genodermatosis that usually affects female infants. The associated abnormalities involve ocular, dental, skeletal and central nervous systems.
The authors present a six-week-old baby girl, who was noted to have skin bullae and characteristic pigmentation and the pathology proved the diagnosis of incontinentia pigmenti.
Seizure occurred once, but brain MRI showed no definite finding.
Ocular findings included retinal hemorrnage, a cotton wool spot in the macula, and abnormal arterio-venous connections in mid-peripheral zone with no Vascular perfusion peripheral to it in her left eye. Engorgement and torturosity of retinal vessels were also noted.
These retinal vascular changes have a striking similarity to the vascular lesions of retinopathy of prematurity.

並列關鍵字

Incontinentia Pigmenti ； Bloch-Sulzberger syndrome ； Peripheral retinal vascular disorder