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A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract.

Shahnazari B, Aghamaleki A, Larijani B, Mohajeri Tehrani MR, Rafati H, Babamahmoodi A - Case Rep Med (2012)

Bottom Line: The underlying problem for all the MEN syndromes is failure of a tumour suppressor gene.The reported patient is an 18-year-old girl presented with long-term diarrhea and enterocutaneous fistula.Her thyroid nodules, marfanoid habitus and bumpy lips, were also highly suggestive for MEN2B.

View Article: PubMed Central - PubMed

Affiliation: Endocrinology and Metabolism Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

ABSTRACT
Multiple endocrine neoplasia type 2 (MEN2) is a rare familial syndrome caused by mutations in the RET protooncogene and it is transmitted as an autosomal dominant trait. The underlying problem for all the MEN syndromes is failure of a tumour suppressor gene. The genetic defect in MEN2 is on chromosome 10 (10q11.2) and has also been identified both for MEN2A and MEN2B. The reported patient is an 18-year-old girl presented with long-term diarrhea and enterocutaneous fistula. Her thyroid nodules, marfanoid habitus and bumpy lips, were also highly suggestive for MEN2B.

No MeSH data available.


Related in: MedlinePlus

The patient had mucosal neuromas on the anterior third of her tongue. Note the bumpy/blubbery lips.
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fig1: The patient had mucosal neuromas on the anterior third of her tongue. Note the bumpy/blubbery lips.

Mentions: Bumpy lip/neuromas were found on the distal part of the tongue as well as on the conjunctiva of both eyes (Figure 1).


A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract.

Shahnazari B, Aghamaleki A, Larijani B, Mohajeri Tehrani MR, Rafati H, Babamahmoodi A - Case Rep Med (2012)

The patient had mucosal neuromas on the anterior third of her tongue. Note the bumpy/blubbery lips.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3472613&req=5

fig1: The patient had mucosal neuromas on the anterior third of her tongue. Note the bumpy/blubbery lips.
Mentions: Bumpy lip/neuromas were found on the distal part of the tongue as well as on the conjunctiva of both eyes (Figure 1).

Bottom Line: The underlying problem for all the MEN syndromes is failure of a tumour suppressor gene.The reported patient is an 18-year-old girl presented with long-term diarrhea and enterocutaneous fistula.Her thyroid nodules, marfanoid habitus and bumpy lips, were also highly suggestive for MEN2B.

View Article: PubMed Central - PubMed

Affiliation: Endocrinology and Metabolism Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

ABSTRACT
Multiple endocrine neoplasia type 2 (MEN2) is a rare familial syndrome caused by mutations in the RET protooncogene and it is transmitted as an autosomal dominant trait. The underlying problem for all the MEN syndromes is failure of a tumour suppressor gene. The genetic defect in MEN2 is on chromosome 10 (10q11.2) and has also been identified both for MEN2A and MEN2B. The reported patient is an 18-year-old girl presented with long-term diarrhea and enterocutaneous fistula. Her thyroid nodules, marfanoid habitus and bumpy lips, were also highly suggestive for MEN2B.

No MeSH data available.


Related in: MedlinePlus