Peyman Mohammadreza, Ong Ming Jew, Iqbal Tajunisah, Subrayan Visvaraja
Department of Ophthalmology, UMMC, University of Malaya, Kuala Lumpur, Malaysia.
BMJ Case Rep. 2010 Dec 29;2010:bcr0820103266. doi: 10.1136/bcr.08.2010.3266.
Iris mammillations are dark brown, smooth, mound- or dome-shaped protuberances that are typically found on the anterior iris surface and are presumed to be congenital in origin. This congenital anomaly is usually unilateral and can be hereditary or sporadic. Lisch nodules in neurofibromatosis, tapioca melanoma of the iris, inflammatory iris granulomata and Cogan-Reese syndrome should be considered in the differential diagnosis. In this case report, the authors present a case of a bilateral iris mammillations in two siblings with congenital adrenal hyperplasia (CAH). To our knowledge, this is the first case where bilateral iris mammilations have been found to be associated with a systemic condition. Iris mammillations can be considered as one of the clinical signs in CAH in view of the pathogenesis discussed. Detailed ocular examination in CAH may reveal an increased incidence.
虹膜乳头状隆起是深褐色、光滑、呈丘状或穹顶状的突起，通常见于虹膜前表面，推测为先天性起源。这种先天性异常通常为单侧，可为遗传性或散发性。鉴别诊断时应考虑神经纤维瘤病中的Lisch结节、虹膜木薯样黑色素瘤、炎性虹膜肉芽肿和科根-里斯综合征。在本病例报告中，作者介绍了两例患有先天性肾上腺皮质增生症（CAH）的兄弟姐妹出现双侧虹膜乳头状隆起的病例。据我们所知，这是首次发现双侧虹膜乳头状隆起与一种全身性疾病相关。鉴于所讨论的发病机制，虹膜乳头状隆起可被视为CAH的临床体征之一。对CAH进行详细的眼部检查可能会发现发病率增加。
