Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases

Abstract

Multiple endocrine neoplasia syndromes (MEN) are genetic disorders with glandular hyperplasia and consecutive malignant neoplasia. MEN type 2B is the least common form of these tumor syndromes. It presents with typical dysmorphic features, mucosal neuromas, ganglioneuromatosis, medullary thyroid carcinoma (MTC) and phaeochromocytoma. The prognosis depends on the presence of MTC. We have surprisingly found two unrelated patients with this syndrome at our department within two weeks. In the medical history of a 17-year-old boy, Crohn's disease had been considered because of abdominal pain and distention. He had marfanoid appearance and previously undergone minor surgeries for a large tongue with neuromas and hypertrophic gums. Two weeks later, a 10-year-old girl presented with a hard palpable mass on her neck. She had thickened lips, neuromas on the tongue and a solitary thyroid nodule. Genetic analysis was carried out in both patients and a heterozygous M918T mutation of the RET proto-oncogene was found. Laboratory tests and imaging studies were consistent with MTC. Phaeochromocytoma was not present. Both patients underwent total thyroidectomy and lymph node dissection. Histological examination confirmed the diagnosis of MTC. In conclusion, the initial diagnosis of MEN 2B should be suspected on the presence of typical facial/oral signs and gastrointestinal symptoms. Hormonal tests and imaging techniques of the thyroid and the adrenals can confirm the clinical diagnosis of MEN 2B and genetic analysis can prove its germline origin.

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

“…There were no signs of marfanoid phenotype, which usually become apparent during puberty or early adolescence, in our patient's case [6]. …”

“…Considering the high risk of early metastasis (to the liver and lungs) and the aggressive and life-threatening nature of MTC in MEN2B, it is vital to recognize the condition as soon as possible [6,7,9]. In view of the fact that our case was asymptomatic, he was diagnosed as having the disease only because his mother was a known case of aggressive MTC.…”

“…After ruling out pheochromocytoma, prophylactic thyroidectomy should be performed before the age of six months to treat MTC in patients with MEN2B [2,4,6-8,11]. Here, we report a case of MEN2B in a patient, recognized only after his mother was found to have the same disease.…”

Multiple Endocrine Neoplasia Type 2B: Maxillofacial Significance in 5 Cases

“…Duquia et al 16 As the syndrome has become more commonly recognized, several groups in the past 5 years have emphasized the importance of early diagnosis, a point pertinent to the present series. 12,19,[47][48][49] The 5 patients described in this review presented with many of the general features of MEN2B, such as marfanoid habitus, bone fragility, ocular lesions, chronic constipation, peripheral muscle weakness, MTC, and, in the 4 patients tested, positivity for RET mutations. All 5 exhibited consistent marfanoid disproportions and all 5 underwent thyroidectomy.…”

Oral Mucosa in Systemic Diseases and Syndromes

“…Daha az sıklıkla yanak mukozası, jinjiva, damak, farinks ya da larinkste görülebilir 4 . Nöromların herhangi bir komplikasyonu yoktur ve erken tanıya götürebilmeleri açısından önem taşırlar 41 . …”