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


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


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

❮ Previous
Next ❯


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

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cell Signaling by Tyrosine Kinases

Receptor tyrosine kinases (RTKs) are the high-affinity cell surface receptors for many polypeptide growth factors, cytokines, and hormones. RTKs have been shown not only to be key regulators of normal cellular processes but also to have a critical role in the development and progression of many types of cancer. Discover the latest research on cell signaling and RTK here.

Related Papers

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Jessica Moline, C Eng
Japanese Journal of Clinical Oncology
M OhtaT Mitomi
© 2021 Meta ULC. All rights reserved