Lacrimal caruncle nevus associated with Rubinstein-Taybi syndrome.
We present a 28-year-old man with diagnosed Rubinstein-Taybi syndrome (RSTS), known as "Broad thumb-Hallux syndrome" with co-existing lacrimal caruncle tumor. Because of the documented enlargement of the lacrimal caruncle mass and known increased risk to develop malignancies in RSTS patients we decided to perform excisional biopsy, which revealed caruncle nevus. To our knowledge this is the first description of such an association.
Pogrzebielski
Arkadiusz
A
Department of Ophthalmology and Ocular Oncology, Jagiellonian University, Krakow, Poland.
Piwowarczyk
Anna
A
Kohylarz
Joanna
J
Romanowska-Dixon
Bozena
B
D000328:Adult; D001037:Aphasia; D001707:Biopsy, Needle; D003228:Conjunctiva / Q000473:pathology / Q000601:surgery; D005134:Eye Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D005901:Glaucoma / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007765:Lacrimal Apparatus / Q000473:pathology / Q000601:surgery*; D008297:Male; D009508:Nevus, Pigmented / Q000150:complications / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery*; D019989:Persons with Intellectual Disabilities; D012415:Rubinstein-Taybi Syndrome / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D016896:Treatment Outcome