Mucosal Neuromas

Scott, Andrew R.; Compton, Rebecca A.

doi:10.1056/nejmicm1815549

Cited by 4 publications

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“…In the recently published German GPOH-MET registry study, the relatively late appearance of mucosal neuromas/neurofibromas (mean age 10.1 year) did not significantly precede symptoms of MTC [ 12 ]. However, this feature should be a trigger for further diagnostic work-up and can lead to MEN2B diagnosis [ 33 – 35 ]. The characteristic wide maxillary midline diastema is a non-specific feature as a midline diastema is a normal stage of dental development with a prevalence of 25–40% in children with a mixed dentition [ 36 ].…”

Section: Discussionmentioning

confidence: 99%

Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series

et al. 2021

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Background Medullary thyroid carcinoma (MTC) in childhood is rare and has an unfavorable prognosis. To improve outcome, early diagnosis is essential. In patients with multiple endocrine neoplasia type 2B (MEN2B), MTC can occur already before the age of 1 year. Recognition of non-endocrine features of MEN2B may lead to timely diagnosis. Purpose To describe how early recognition of non-endocrine features can lead to a timely diagnosis of MEN2B as well as the effect of recognition of premonitory symptoms on prognosis. Methods A retrospective case series from the University Medical Center Utrecht/Wilhelmina Children’s Hospital, a Dutch national expertise center for MEN patients. All eight MEN2B patients in follow-up between 1976 and 2020 were included and medical records reviewed. Results Intestinal ganglioneuromatosis (IGN) as the cause of gastrointestinal (GI) symptoms was detected in seven patients. In three of them within months after birth. This led to early diagnosis of MEN2B, which allowed subsequent curative thyroid surgery. On the contrary, a MEN2B diagnosis later in childhood—in three patients (also) triggered by oral neuromas/neurofibromas—led to recurrent, persistent, and/or progressive MTC in five patients. Conclusions Neonatal GI manifestations offer the most important window of opportunity for early detection of MEN2B. By accurate evaluation of rectal biopsies in patients with early onset severe constipation, IGN can be timely detected, while ruling out Hirschsprung’s disease. MEN2B gene analysis should follow detection of IGN and—when confirmed—should prompt possibly still curative thyroid surgery.

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Section: Discussionmentioning

confidence: 99%

Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series

et al. 2021

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“…After the diagnosis of MEN 2B, the patients' immediate family members should be screened for MTC and PCC, and early genetic testing for RET proto-oncogene mutations is necessary to achieve the purpose of early discovery and early treatment (17,18). Therefore, MEN 2B can be diagnosed by the special face caused by MN, the clinical manifestations of MTC, PCC and radiography, biochemical examinations, and it can be diagnosed early by detecting mutations in RET proto-oncogene (19). Our patient showed no abnormalities in the skeletal structure, lip shape, sonographic examination of the thyroid, or in any of the endocrine examinations, and there were no tumors elsewhere in the oral cavity or the ocular region.…”

Section: Discussionmentioning

confidence: 99%

Solitary mucosal neuroma of the gingiva without multiple endocrine neoplasia type 2B: a rare case report and literature review

Qiu¹,

Wang²,

Chen³

et al. 2021

Front Oral Maxillofac Med

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Mucosal neuroma (MN) is a benign neural tumor of peripheral nerves histologically characterized by irregular tortuous bundles of nerve cells with prominent perineurium that lie scattered throughout the submucosa. The tumor is usually associated with the multiple endocrine neoplasia type 2B (MEN 2B) but rarely occurs without the other components of MEN 2B. A 29-year-old woman presented to our outpatient department with an upper anterior teeth gingiva painless mass for 2-year. Intraoral examination revealed a small, tough, basal wide, well-defined mass in the labial gingival papilla between maxillary central incisor. Excisional biopsy showed that it was characterized by nerve bundles in various sizes surrounded by normal connective tissue in the submucosa under HE staining; Immunohistochemically, the mass showed strongly positive staining of S-100 protein, NSE, NF and weakly positive of EMA. The Laboratory examination and ultrasonography showed no signs of MEN 2B. In the first and second 6 months of follow-up, there was no evidence of recurrence and other components of MEN 2B. The patient was asymptomatic and she is still being followed up every 6 months. Based on these features, the lesion was finally diagnosed as a solitary gingival MN. In summary, this study showed a rare solitary MN in the gingiva papilla without MEN 2B that has not been reported yet. The histopathological evaluation can be helpful in the differential diagnosis of MN. It is hoped that a greater understanding of solitary MN without MEN 2B in the oral cavity will avoid potential misdiagnosis, and contribute to determining the correct management, which appears to be complete surgical excision with close follow-up for recurrence and other components of MEN 2B surveillance.

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“…In 1975, Khairi et al [1] proposed that the condition of combined medullary thyroid carcinoma (MTC), pheochromocytomas and mucosal neuroma (MN) should be referred to as multiple endocrine neoplasia (MEN) type 3, also known as multiple endocrine neoplasia type 2B (MEN 2B) now. MEN 2B is an autosomal dominant syndrome associated with RET gene mutations and characterized by an aggressive form of MTC and bilateral pheochromocytomas (PCC) [2,3]. MN of MEN 2B is always observed on the mucosal surfaces of the lips, tongue, eyelids, and intestines of patients [4], but rarely occur without the other abnormality about MEN 2B.…”

Section: Introductionmentioning

confidence: 99%

“…Clinically, MN usually presents as a rm, slowly enlarging, small, circumscribed mass, which is painless in most cases [3,7,13,16], although it can frequently cause symptoms such as pain and paresthesia [5,6,9,10,15]. In the vast majority of cases, complete surgical excision is curative; however, recurrences have been reported in some cases [14,17].…”

Section: Introductionmentioning

confidence: 99%

Solitary mucosal neuroma in the maxillary incisor gingival papilla without multiple endocrine neoplasia type 2B (MEN 2B): a case report and literature review

Qiu

Wang

Chen

et al. 2020

Preprint

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Background Mucosal neuroma (MN) is a benign neural tumor of peripheral nerves histologically characterized by irregular tortuous bundles of nerve cells with prominent perineurium that lie scattered throughout the submucosa. The tumor is usually associated with the multiple endocrine neoplasia type 2B (MEN 2B) but rarely occurs without the other components of MEN 2B. We present a case of solitary MN without MEN 2B that occurs in the maxillary incisor gingival papilla that has not been reported yet and review the literature. Case presentation: A 29-year-old woman presented to our outpatient department with an upper anterior teeth gingiva painless mass for 2-year. Intraoral examination revealed a small, tough, basal wide, well-defined mass in the labial gingival papilla between maxillary central incisor. Excisional biopsy showed that it was characterized by nerve bundles in various sizes surrounded by normal connective tissue in the submucosa under HE staining; Immunohistochemically, the mass showed strongly positive staining of S-100 protein, NSE,NF and weakly positive of EMA. The Laboratory examination and ultrasonography showed no signs of MEN 2B. In the first 6 months of follow-up, there was no evidence of recurrence and other components of MEN 2B. The patient was asymptomatic and she is still being followed up every 6 months. Based on these features, the lesion was finally diagnosed as a solitary gingival MN. Conclusions This study showed a rare solitary MN in the gingiva papilla without MEN 2B that has not been reported yet. The histopathological evaluation can be helpful in the differential diagnosis of MN. It is hoped that a greater understanding of solitary MN without MEN 2B in the oral cavity will avoid potential misdiagnosis, and contribute to determining the correct management, which appears to be complete surgical excision with close follow-up for recurrence and other components of MEN 2B surveillance.

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Mucosal Neuromas

Cited by 4 publications

References 0 publications

Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series

Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series

Solitary mucosal neuroma of the gingiva without multiple endocrine neoplasia type 2B: a rare case report and literature review

Solitary mucosal neuroma in the maxillary incisor gingival papilla without multiple endocrine neoplasia type 2B (MEN 2B): a case report and literature review

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