Niveditha M, Prathap Priya, Asokan Neelakandhan
Department of Dermatology, Venereology and Leprosy, Government Medical College, Thrissur, Kerala, India.
Int J Trichology. 2025 Jan-Feb;17(1):73-76. doi: 10.4103/ijt.ijt_134_22. Epub 2025 Jun 23.
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.
瓦登伯革氏综合征（WS）是一种常染色体显性遗传病，估计患病率为1/20000 - 1/40000。一名8岁男孩，其父母非近亲结婚，自出生以来就有前额和右腿色素脱失区域的主诉。检查发现，前额中央有一个边界清晰的无色素痣，大小为5厘米×2.5厘米，有一些正常色素沉着斑点，头皮额部有一束白发，右腿后部有一个边界清晰的无色素痣，大小为6厘米×4厘米，中央有一小片正常色素沉着区域。他有胸椎脊柱侧弯。鼻根宽阔，内眦间距增宽。右眼有外斜视和小角膜，视力为6/24。右眼眼底检查显示视盘大、视盘缺损、视盘周围萎缩以及黄斑色素改变。左眼正常。无听力缺陷。他的父亲和两个兄弟姐妹也有类似分布的斑片状色素脱失。他们可能代表同一种疾病的有限表现形式。他们均符合WS的诊断标准。WS很罕见，全球仅报道了不到100例病例。
