Case presentation Social and relevant medical and dental history A 29-year-old Asian female patient presented to the outpatient clinic of Department of Periodontology, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine [fomm.amegroups.com]

• Marfanoid Habitus

  MNs usually occur in the oral cavity as a component of MEN 2B, which is a syndrome of multiple MNs, MTC, pheochromocytoma (PCC), bumpy lips, and marfanoid habitus, although not always concurrently. [fomm.amegroups.com]

• Hoarseness

  MN of the throat often causes hoarseness and prickly sensation in the throat, occasionally had a cough with sputa, but there is usually no pyrexia or dysphagia (3). Meanwhile, patients with MN of the bronchi often had a cough with sputa (20). [fomm.amegroups.com]

• Constipation

  MN present on intestinal tract often causes stomachache and constipation (21) and MNs of the oral cavity are usually painless but may interfere with eating or cause oral and maxillofacial deformities (4-7). [fomm.amegroups.com]

• Dysphagia

  MN of the throat often causes hoarseness and prickly sensation in the throat, occasionally had a cough with sputa, but there is usually no pyrexia or dysphagia (3). Meanwhile, patients with MN of the bronchi often had a cough with sputa (20). [fomm.amegroups.com]

• Poor Oral Hygiene

  At baseline, the patient had poor oral hygiene and gingiva was slightly red and swollen, plaque and calculus deposition, and a small amount of pigmentation was found on the tooth surface. [fomm.amegroups.com]

• Periodontitis

  Periodontal initial therapy The patient was informed that periodontal treatment was initiated via oral hygiene instructions and professional supragingival biofilm control, including supragingival and subgingival scaling, 4–6 weeks after periodontal initial [fomm.amegroups.com]

• Large Hand

  Physical examinations may reveal an elongated face, lower jaw protrusion, large hands and feet and relatively long extremities (15). In addition, MTC commonly develops in all subtypes of MEN 2 and is the most important prognostic factor. [fomm.amegroups.com]

• Dry Eyes

  Moreover, MN of the conjunctiva MN in the conjunctiva can cause foreign body sensation and dry eyes (22). MN in the oral cavity without MEN 2B is very rare, a total of 9 cases have been reported including the case reported in this article. [fomm.amegroups.com]

• Thick Lips

  Thick lips, bumpy tongue, and slipped capital femoral epiphysis--a deadly combination. J Pediatr Orthop. 1988 Mar-Apr;8(2):219–222. [PubMed] [Google Scholar] Morrison PJ, Nevin NC, Hughes AE, Hadden DR, Russell CF. [ncbi.nlm.nih.gov]

• Suggestibility

  Nevertheless, some investigators have suggested that MTC and PCC may appear later (16,23). The knowledge of MEN 2B is still insufficient and the lack of knowledge impairs the ability to obtain an early diagnosis and cure. [fomm.amegroups.com]

  Recent biochemical evidence suggests that this mutation alters the substrate specificity of intracellular signal transduction. Full text Full text is available as a scanned copy of the original print version. [ncbi.nlm.nih.gov]

The Timeline of diagnosis, treatment and follow-up of this case are shown in Figure 5. Figure 5 Timeline of diagnosis, treatment, and follow-up. The patient is still being followed up every 6 months. [fomm.amegroups.com]

Prognosis In the 12 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. [fomm.amegroups.com]

Additionally, all available data were reviewed, including epidemiology, clinical presentation, histopathologic examination findings, and surgical intervention. [fomm.amegroups.com]

Medullary thyroid carcinoma, genes, and the prevention of cancer. N Engl J Med. 1994 Sep 29;331(13):870–871. [PubMed] [Google Scholar] Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group [ncbi.nlm.nih.gov]