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Type de présentationE-poster
TitreProminent corneal nerves: not as innocuous as may seem
ButTo describe two cases of prominent corneal nerves which led to a systemic diagnosis of multiple endocrine neoplasia (MEN) type 2B, the most severe of MEN types which features multiple benign oral and submucosal tumors in addition to endocrine malignancies of which medullary thyroid cancer is often fatal.
MéthodesCase series of 2 patients
RésultatsThe first case was a 31-year-old male presenting with chronic, recurrent ocular redness and irritation. Slit-lamp findings showed bilateral diffusely enlarged corneal nerve fibers, peripheral corneal neovascularization and conjunctival neurinoma. The second was a 19-year-old female who was referred for left-sided conjunctivitis. She was found to have an induced relative ptosis due to subcutaneous neurinoma, prominent corneal nerve fibres and conjunctival neurinoma. Both had a marfanoid habitus, low muscle mass, chronic constipation, and multiple neuromas on their tongue. Considering the ocular and systemic findings, genetic analysis of the RET proto-oncogene was performed, which demonstrated a gain-of-function mutation, thus confirming the diagnosis of MEN type 2B. Urgent systemic work-up revealed pheochromocytoma and medullary thyroid carcinoma in both patients with lymph node involvement in the man and liver metastasized disease in the female.
ConclusionThe presence of diffuse prominent corneal nerve fibers warrants detailed assessment of the conjunctiva and eyelids for neuromas and history taking for signs of underlying MEN type IIb.
Conflit d'intérêtNon
Auteur 1
NomVAN DEN NOORTGATE
InitialesR
InstitutDpt of Ophthalmology
VilleGhent University Hospital, Belgium
Auteur 2
NomKREPS
InitialesE
InstitutDpt of Ophthalmology
VilleGhent University Hospital, Belgium
Auteur 3
NomCALLEWAERT
InitialesB
InstitutCentre of Medical Genetics
VilleGhent University Hospital, Belgium
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