RT Journal Article
SR Electronic
T1 Iris mammillations in two female siblings with congenital adrenal hyperplasia
JF BMJ Case Reports
FD BMJ Publishing Group Ltd
SP bcr0820103266
DO 10.1136/bcr.08.2010.3266
VO 2010
A1 Mohammadreza Peyman
A1 Ming Jew Ong
A1 Tajunisah Iqbal
A1 Visvaraja Subrayan
YR 2010
UL http://casereports.bmj.com/content/2010/bcr.08.2010.3266.abstract
AB 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.