PMID: 11388386Jun 5, 2001Paper

From eyelid bumps to thyroid lumps: report of a MEN type IIb family and review of the literature

Ophthalmic Plastic and Reconstructive Surgery
J M Jacobs, M J Hawes

Abstract

We present a two-generation family with multiple endocrine neoplasia (MEN) type IIb diagnosed by their ophthalmologists based on characteristic ophthalmic findings. A family consisting of a 33-year-old female proband and her 8- and 7-year-old children had prominent corneal nerves; eyelid, lip, and tongue nodules; and a characteristic facies. A polymerase chain reaction-based genetic assay was obtained to detect the genetic mutation most commonly associated with MEN type IIb. Serum calcitonin and urine catecholamine studies were obtained. Molecular genetic studies detected in all 3 patients a mutation at codon 918 of the RET proto-oncogene known to be present in 95% of the cases of MEN type IIb. Serum calcitonin was elevated in the proband and her son. Urine catecholamine levels were elevated in the proband. Surgical treatment and histologic analysis confirmed pheochromocytoma and medullary thyroid carcinoma (MTC) in the proband. Surgical exploration revealed the MTC to be metastatic to the liver. This family demonstrates the characteristic findings of MEN type IIb: prominent corneal nerves in a clear stroma and multiple submucosal neuromas of the conjunctiva, eyelids, lips, and tongue. Ophthalmologists have a critical role to p...Continue Reading

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Citations

Dec 22, 2011·Journal of Medical Case Reports·Mahnaz MajidiBagher Larijani
Aug 4, 2009·Journal of Pediatric Ophthalmology and Strabismus·Narman Puvanachandra, Maryam Aroichane
Jul 30, 2004·Clinical & Experimental Ophthalmology·Douglas G ParkerBrett A O'Donnell
Oct 18, 2002·American Journal of Ophthalmology·Jerry A ShieldsNoel Perez
Jan 25, 2007·Acta Ophthalmologica Scandinavica·Jens Henrik Søndergaard Pedersen, Ove Schaffalitzky De Muckadell
Apr 2, 2016·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·M C HerwigE Bierhoff
Nov 10, 2016·Ophthalmic Plastic and Reconstructive Surgery·Frederick A JakobiecMichael K Yoon
Nov 21, 2002·Current Opinion in Ophthalmology·Pamela Suzanne Chavis
Mar 19, 2002·Ophthalmic Plastic and Reconstructive Surgery·Ian C Francis, Marijan Filipic
Nov 29, 2017·Ophthalmic Genetics·Elke O KrepsBert L Callewaert
Jan 29, 2019·Orbit·Alison B HugginsRalph C Eagle

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