LEOPARD syndrome with a new association of congenital corneal tumor, choristoma.
A 5-year-old girl with a family history of LEOPARD syndrome had multiple lentigines on the face and trunk, hypertelorism, and growth retardation. In addition, she had congenital corneal tumors on both eyes. Histologically the tumors were choristoma. The neuroectodermal origin hypothesis of LEOPARD syndrome could explain the presence of a congenital corneal tumor in this patient. We suggest that corneal tumor may represent an unrecognized associated finding in this syndrome.
Choi
Won-Woo
WW
Department of Dermatology, College of Medicine, Seoul National University, Korea.
Yoo
Jong-Yeop
JY
Park
Kyoung-Chan
KC
Kim
Kyu-Han
KH
D000015:Abnormalities, Multiple / Q000175:diagnosis; D001707:Biopsy, Needle; D002675:Child, Preschool; D002828:Choristoma / Q000150:complications / Q000473:pathology*; D003315:Cornea; D005134:Eye Neoplasms / Q000150:complications / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000150:complications / Q000175:diagnosis; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000175:diagnosis; D006801:Humans; D006972:Hypertelorism / Q000150:complications / Q000175:diagnosis; D007150:Immunohistochemistry; D007911:Lentigo / Q000150:complications / Q000175:diagnosis; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D010375:Pedigree; D013577:Syndrome