Typical ocular findings in a patient with multiple endocrine neoplasia type 2b syndrome

Abstract

Greatly thickened corneal nerves and subconjunctival tumors may be the first hint of MEN 2b. Whenever greatly thickened corneal nerves are detected, MEN 2b must be ruled out.

A family presenting with multiple endocrine neoplasia type 2B: A case report

“…These manifestations are seen in 86% of patients at the time of diagnose [6,10,12]. Prominent corneal nerves, which were also noted in our patient, are characteristic of MEN2B [10-13]; it, however, may be reported in other syndromes as well and that could be the reason that our patient remained undiagnosed for many years despite having these typical features [10,11,13]. Early detection of such symptoms can prevent from the development of other life threatening complications of the syndrome [11,12,17].…”

“…Individuals with MEN 2B show a variety of additional conditions, including a characteristic facial appearance with swollen lips, neuromas of the mucous membranes of the eye, mouth, tongue, and nasal cavity, enlarged colon, and skeletal abnormalities [11-13]. …”

A Patient with MEN1 Typical Features and MEN2-Like Features

“…Although the patient carries a germline MEN1 mutation, yet she manifests MEN2-like features, including pheochromocytoma and thickened corneal nerves [8–11]. Pheochromocytoma has also been a rare (<1%) feature of MEN1, reported in fewer than ten cases in the literature [12–18].…”

“…The finding of thickened corneal nerves is rare, and has been described in several diseases including nonendocrinological and endocrinological diseases such as neurofibromatosis 1 (NF1) and MEN2 [8,20,21]. Although typically characteristic of MEN2B [8,10], thickened corneal nerves have been described also in MEN2A [9,11].…”

“…Although typically characteristic of MEN2B [8,10], thickened corneal nerves have been described also in MEN2A [9,11]. There is however no previous report of MEN1 cases associated with thickened corneal nerves.…”