Waardenburg Syndrome in a Family.

Q2 Medicine
International Journal of Trichology Pub Date : 2025-01-01 Epub Date: 2025-06-23 DOI:10.4103/ijt.ijt_134_22
M Niveditha, Priya Prathap, Neelakandhan Asokan
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引用次数: 0

Abstract

Waardenburg syndrome (WS) is an autosomal dominant genetic disease with an estimated prevalence of 1 in 20,000-40,000. An 8-year-old boy, born to nonconsanguineous parents, presented with complaints of areas of depigmentation on the forehead and right leg since birth. On examination, there was a well-defined amelanotic macule on the center of the forehead of size 5 cm × 2.5 cm with a few spots of normal pigmentation, a forelock of white hair on the frontal area of the scalp, and a well-defined amelanotic macule of size 6 cm × 4 cm with a small central area of normal pigmentation on the posterior part of the right leg. He had scoliosis of the spine in the thoracic region. The nasal root was broad with widely separated inner canthi. There was exotropia and microcornea of the right eye with a visual acuity of 6/24. Fundus examination of the right eye showed a large disc, disc coloboma, peripapillary atrophy, and pigmentary changes in the fovea. The left eye was normal. There was no hearing defect. His father and two siblings too had patchy amelanosis in a similar distribution. They probably represent a limited expression of the same disease. All of them meet the diagnostic criteria for WS. WS is rare with only <100 cases reported worldwide.

Waardenburg综合征在一个家庭。
Waardenburg综合征(WS)是一种常染色体显性遗传病,估计患病率为1 / 20,000-40,000。一名8岁男孩,非近亲所生,自出生以来前额和右腿出现色素沉着区。检查发现:前额中央有一个明确的无色素斑,大小为5cm × 2.5 cm,并有少量正常色素沉着,头皮额部有一绺白发,右腿后部有一个明确的无色素斑,大小为6cm × 4cm,中心有一小块正常色素沉着。他胸部有脊柱侧凸。鼻根宽,内眦较宽。右眼有外斜视和小角膜,视力6/24。右眼眼底检查显示椎间盘大,椎间盘缺损,乳头周围萎缩,中央凹色素改变。左眼正常。没有听力缺陷。他的父亲和两个兄弟姐妹也有类似分布的斑状无色素症。它们可能代表了同一种疾病的有限表现。均符合WS的诊断标准。WS是罕见的,只有
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来源期刊
CiteScore
1.50
自引率
0.00%
发文量
38
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