Bilateral submandibular gland oncocytoma in a patient with multiple endocrine neoplasia 2B syndrome and neurofibromatosis type 1: an unusual case

2011 ◽  
Vol 40 (7) ◽  
pp. 764-767 ◽  
Author(s):  
Mehrnoosh Dastaran ◽  
Arun Chandu
Keyword(s):  
Submandibular Gland ◽  
Neurofibromatosis Type 1 ◽  
Multiple Endocrine Neoplasia ◽  
Unusual Case ◽  
Neurofibromatosis Type ◽  
Endocrine Neoplasia

Coincidence of Neurofibromatosis Type 1 and Multiple Endocrine Neoplasia Type 2

2008 ◽  
Vol 18 (6) ◽  
pp. 277-281 ◽  
Author(s):  
Dario Cotesta ◽  
Zoran Erlic ◽  
Luigi Petramala ◽  
Antonella Verrienti ◽  
Giuseppe Cavallaro ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Neurofibromatosis Type ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals Unusual Case of Angle Closure Glaucoma in a Patient with Neurofibromatosis Type 1

2014 ◽  
Vol 5 (3) ◽  
pp. 386-391 ◽  
Author(s):  
Flavio Mantelli ◽  
Solmaz Abdolrahimzadeh ◽  
Giuseppe Mannino ◽  
Alessandro Lambiase
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Unusual Case ◽  
Neurofibromatosis Type ◽  
Angle Closure Glaucoma ◽  
Angle Closure

Inherited endocrine syndromes and multiple endocrine neoplasia

2018 ◽  
pp. 393-413
Author(s):  
Helen E. Turner ◽  
Richard Eastell ◽  
Ashley Grossman
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Endocrine System ◽  
Neurofibromatosis Type ◽  
Von Hippel Lindau ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Characteristic Features ◽  
Albright Syndrome

This chapter discusses the characteristic features, epidemiology, pathophysiology, clinical features, complications, and management of endocrine-related genetic disorders and diseases such as McCune–Albright syndrome, endocrine tumours in neurofibromatosis type 1, Von Hippel–Lindau disease (VHL), Carney complex, Cowden syndrome, and multiple endocrine neoplasia type 1 and type 2 (MEN1 and MEN2, respectively). It also provides some remarks on multiple endocrine neoplasia type 4 (MEN4). Given the genetic basis of disorder manifestation, the chapter discusses the relation of disease severity to the genome and genetic variations of the causes for endocrine system disorders.

scholarly journals SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Heather Choat ◽  
Kerri Derrevere ◽  
Lisa Knight ◽  
Whitney Brown ◽  
Elizabeth H. Mack
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Pediatric Population ◽  
Neurofibromatosis Type ◽  
Preoperative Management ◽  
Von Hippel Lindau ◽  
Endocrine Neoplasia ◽  
Succinate Dehydrogenase Subunit B ◽  
Hereditary Pheochromocytoma ◽  
Subunit B

Pheochromocytoma and paraganglioma are rare in the pediatric population occurring in approximately 1 in 50,000 children. While some cases are sporadic, they have commonly been associated with syndromes such as von Hippel-Lindau, multiple endocrine neoplasia types IIa and IIb, neurofibromatosis type 1, and hereditary pheochromocytoma-paraganglioma syndromes. In children less than 18 years of age approximately 60% of pheochromocytomas and paragangliomas are associated with a germline mutation. We present an 11-year-old child with an abdominal paraganglioma related to a succinate dehydrogenase subunit B gene mutation whose father had a previously resected abdominal paraganglioma and was found to carry the same mutation. In addition, we review the etiology, genetics, diagnostic approach, and challenges of preoperative management of secretory pheochromocytomas and paragangliomas in children.

A RARE CASE OF MULTIPLE SUBUNGUAL GLOMUS TUMOURS IN A NEUROFIBROMATOSIS TYPE 1 PATIENT

Hand Surgery ◽  
2015 ◽  
Vol 20 (01) ◽  
pp. 159-160
Author(s):  
J. Yuen ◽  
L. Bavan ◽  
A. Graham
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Rare Case ◽  
Unusual Case ◽  
Genetic Disorder ◽  
Neurofibromatosis Type

Glomus tumours are uncommon lesions of the digit. They tend to be solitary. Only a small number of multifocal cases have been published, most of which are linked to an underlying genetic disorder. Here we report an unusual case of multifocal glomus tumours in the same hand in a patient suffering from neurofibromatosis type 1.

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