Relationship of familial prominent corneal nerves and lesions of the tongue resembling neuromas to multiple endocrine neoplasia type 2B

American Journal of Ophthalmology
P J DennehyC E Jackson

Abstract

We studied a two-generation family with an inherited syndrome of prominent corneal nerves and lesions of the tongue resembling neuromas without the characteristic neoplasms of the multiple endocrine neoplasia type 2B syndrome. Several different point mutations in the RET proto-oncogene on chromosome 10 have been associated with the multiple endocrine neoplasia type 2 syndromes. Molecular genetic studies of families with partial phenotypic expression of these syndromes may aid in further understanding the origin of the variety of clinical manifestations observed in multiple endocrine neoplasia type 2. A family consisting of an 8-year-old male proband, his 10-year-old sister, and 40-year-old mother was identified as having prominent corneal nerves and lesions of the tongue resembling neuromas. Pentagastrin-stimulated serum calcitonin levels were measured in the mother and sister. Molecular genetic studies were performed on all three affected members, to look for the specific point mutation seen in over 95% of patients with multiple endocrine neoplasia type 2B. Serum calcitonin levels were normal, indicating no C-cell hyperplasia or medullary thyroid carcinoma. Molecular genetic studies on these individuals did not disclose the sp...Continue Reading

References

Jan 1, 1981·American Journal of Ophthalmology·F C Riley, D M Robertson
Feb 1, 1981·American Journal of Ophthalmology·B SpectorS A Wells
Feb 15, 1994·Proceedings of the National Academy of Sciences of the United States of America·K M CarlsonH Donis-Keller
Jul 1, 1993·Human Molecular Genetics·H Donis-KellerS A Wells

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Citations

Dec 12, 2012·Acta otorrinolaringológica española·Francisco Soroa-RuizJuan Carlos Córdova-Ramón
Jul 15, 2006·Thyroid : Official Journal of the American Thyroid Association·Gill SpyerBijay Vaidya
Jan 20, 2012·European Journal of Human Genetics : EJHG·D Babovic-VuksanovicEric Legius
Jun 5, 2001·Ophthalmic Plastic and Reconstructive Surgery·J M Jacobs, M J Hawes
Nov 15, 2002·Survey of Ophthalmology·Dennis M Robertson

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