Cutaneous lesions associated to multiple endocrine neoplasia syndrome type 1

Vidal, August; Iglesias, M. Eugemia; Fernández, Braulio Francisco Mestre; Fonseca, Eduardo; Cordido, Fernando

doi:10.1111/j.1468-3083.2008.02578.x

Cited by 55 publications

(48 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Collagenomas, found in areas of friction such as the feet, are noted in up to 72% of MEN1 patients, 45,46 while lipomas are seen in 17-34%. 45,46,48 The presence of three or more facial angiofibromas and one or more collagenomas is 75% sensitive and 95% specific for the diagnosis of MEN1 and compares favorably to other diagnostic criteria, including the presence of pituitary tumors in patients with known pancreatic tumors and the presence of adrenal tumors in patients with a major criterion tumor (parathyroid, pituitary, pancreas). 46 Lipomas are usually solitary in the context of MEN1 A review of the management of MEN1 and, unlike angiofibromas and collagenomas, are frequently encountered in the general population (up to 16%).…”

Section: Cutaneous Manifestationsmentioning

confidence: 99%

“…Up to 88% of patients have facial angiofibromas (50% have five or more), which are generally rare except in conjunction with tuberous sclerosis. [45][46][47][48] These red papules are frequently located around the nose and cheeks or on the lips. Collagenomas, found in areas of friction such as the feet, are noted in up to 72% of MEN1 patients, 45,46 while lipomas are seen in 17-34%.…”

Section: Cutaneous Manifestationsmentioning

confidence: 99%

See 1 more Smart Citation

Multiple endocrine neoplasia type 1 (MEN1)

Carroll

2012

Asia-Pac J Clncl Oncology

View full text Add to dashboard Cite

Multiple endocrine neoplasia type 1 (MEN1) is inherited in an autosomal dominant fashion and predisposes to the development of hyperplastic or neoplastic changes in the parathyroid and pituitary glands and the endocrine pancreas, along with numerous other characteristic tumors and features. The management of each entity differs to some degree from their sporadic counterparts, while the lack of a genotype-phenotype correlation requires lifelong clinical, biochemical and radiological screening for the development of new tumors. While the syndrome itself is relatively rare (a prevalence of 1-10/100 000), it is likely that health-care practitioners from numerous specialities will occasionally encounter a patient with MEN1 and therefore a basic knowledge of the syndrome is important. In addition, many of the associated tumors are seen commonly in sporadic form, and a judicious policy is therefore required in deciding how thoroughly patients who develop these tumors should be screened for MEN1. The current literature on MEN1 is reviewed and key learning points are suggested for the clinician.

show abstract

Section: Cutaneous Manifestationsmentioning

confidence: 99%

Section: Cutaneous Manifestationsmentioning

confidence: 99%

Multiple endocrine neoplasia type 1 (MEN1)

Carroll

2012

Asia-Pac J Clncl Oncology

View full text Add to dashboard Cite

show abstract

“…The exact incidence of benign adipose tumors in patients with MEN1, or for that matter in the general population, is not known, as these neoplasms are painless and slow-growing and do not always require treatment. There are, however, reports suggesting that lipomatous tumors are overrepresented in this syndrome (9,11).…”

Section: Discussionmentioning

confidence: 90%

“…Global DNA copy number analyses were performed using SNP array analysis. Tumor DNA was hybridized onto Illumina Human 1M-Duo v3.0 BeadChip (cases [1][2][3][4][5][6][7][8][9][10][11][12][13][14] and Illumina Human Omni-Quad BeadChip (case 15; Illumina), following standard protocols supplied by the manufacturer. DNA from normal blood and the corresponding tumor samples were analyzed in cases 1, 2, 4, and 6 by using the Human CNV370-Quad v3.0 BeadChip.…”

Section: Methodsmentioning

confidence: 99%

Concomitant deletions of tumor suppressor genes MEN1 and AIP are essential for the pathogenesis of the brown fat tumor hibernoma

Nord

Magnusson

Isaksson

et al. 2010

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

Hibernomas are benign tumors with morphological features resembling brown fat. They consistently display cytogenetic rearrangements, typically translocations, involving chromosome band 11q13. Here we demonstrate that these aberrations are associated with concomitant deletions of AIP and MEN1 , tumor suppressor genes that are located 3 Mb apart and that underlie the hereditary syndromes pituitary adenoma predisposition and multiple endocrine neoplasia type I. MEN1 and AIP displayed a low expression in hibernomas whereas the expression of genes up-regulated in brown fat— PPARA , PPARG , PPARGC1A , and UCP1 —was high. Thus, loss of MEN1 and AIP is likely to be pathogenetically essential for hibernoma development. Simultaneous loss of two tumor suppressor genes has not previously been shown to result from a neoplasia-associated translocation. Furthermore, in contrast to the prevailing assumption that benign tumors harbor relatively few genetic aberrations, the present analyses demonstrate that a considerable number of chromosome breaks are involved in the pathogenesis of hibernoma.

show abstract

“…Associated with this syndrom, other endocrine and non-endocrine lesions, such as adrenal cortical tumours, carcinoids of the bronchi, gastrointestinal tract and thymus, meningiomas, lipomas, angiofibromas, collagenomas can also occur in varying combinations (3)(4)(5)(6). Parathyroid gland hyperplasias or adenomas are the most common clinical manifestation of MEN1.…”

Section: Introductionmentioning

confidence: 99%

Unusual Pathologic Findings Associated with Multiple Endocrine Neoplasia Syndrome-1: Undescended Parathyroid Gland Hyperplasia and Mesenteric Cyst

Abdülrezzak

Kula²,

Akçan

et al. 2012

Erciyes Med J

View full text Add to dashboard Cite

ÖZETAlthough gastro-entero-pancreatic tumors constitute main clinical features of multiple endocrine neoplasia type 1 (MEN1), mesenteric cyst has not previously been recognized clinically as part of this syndrome. We report here a woman who presented with combination of mesenteric cyst that was removed surgically and undescended hyperplastic parathyroid gland located in the superior cervical region. This case illustrates that mesenteric cyst, like other gastro-entero-pancreatic tumors, may be part of MEN1. Superior cervical and submandibular areas should be investigated carefully for any uptake when evaluating patients with sestamibi scintigraphy for parathyroid diseases because of potential conflict with salivary glands uptake of sestabimi.

show abstract

Cutaneous lesions associated to multiple endocrine neoplasia syndrome type 1

Abstract: MEN1 is associated to some cutaneous lesions and could be useful for detecting MEN1 carriers in an affected family. Cutaneous lesions should be assessed in MEN1 patients.

Cited by 55 publications

References 28 publications

Multiple endocrine neoplasia type 1 (MEN1)

Multiple endocrine neoplasia type 1 (MEN1)

Concomitant deletions of tumor suppressor genes MEN1 and AIP are essential for the pathogenesis of the brown fat tumor hibernoma

Unusual Pathologic Findings Associated with Multiple Endocrine Neoplasia Syndrome-1: Undescended Parathyroid Gland Hyperplasia and Mesenteric Cyst

Contact Info

Product

Resources

About