Guidelines Summary

Clinical practice guidelines for managing MEN1 have been developed, based on review of peer-reviewed publications. Related clinical guideline summaries include the following:

Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1) ^{[31, 34]}
American Association of Clinical Endocrinologists and Associazione Medici Endocrinologi medical guidelines for clinical practice for the diagnosis and management of thyroid nodules^[35]
Diagnosis and Treatment of Functioning and Non-Functioning Pancreatic and Duodenal Neuroendocrine Neoplasia within the MEN1 Syndrome - An International Consensus Statement^[36]
American Association of Clinical Endocrinologists medical guidelines for clinical practice for the diagnosis and treatment of hypertension^[37]

Questions

Giusti F, Marini F, Brandi ML, Adam MP, Ardinger HH, Pagon RA, et al. Multiple Endocrine Neoplasia Type 1. GeneReviews® [Internet]. 2005 (Last Update: December 14, 2017). [QxMD MEDLINE Link]. [Full Text].
Kamilaris CDC, Stratakis CA. Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis. Front Endocrinol (Lausanne). 2019. 10:339. [QxMD MEDLINE Link].
Darling TN, Skarulis MC, Steinberg SM, Marx SJ, Spiegel AM, Turner M. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Dermatol. 1997 Jul. 133(7):853-7. [QxMD MEDLINE Link].
Zeller S, Marx SJ, Lungu AO, Cowen EW, Turner ML. Multiple angiofibromas and collagenomas in a 45-year-old man with recurrent nephrolithiasis, fatigue, and vision loss. J Am Acad Dermatol. 2009 Aug. 61(2):319-22. [QxMD MEDLINE Link]. [Full Text].
Asgharian B, Turner ML, Gibril F, Entsuah LK, Serrano J, Jensen RT. Cutaneous tumors in patients with multiple endocrine neoplasm type 1 (MEN1) and gastrinomas: prospective study of frequency and development of criteria with high sensitivity and specificity for MEN1. J Clin Endocrinol Metab. 2004 Nov. 89(11):5328-36. [QxMD MEDLINE Link].
Concolino P, Costella A, Capoluongo E. Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years. Cancer Genet. 2016 Jan-Feb. 209 (1-2):36-41. [QxMD MEDLINE Link].
Falchetti A. Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old. F1000Res. 2017. 6:[QxMD MEDLINE Link]. [Full Text].
Feng Z, Ma J, Hua X. Epigenetic regulation by the menin pathway. Endocr Relat Cancer. 2017 Oct. 24 (10):T147-T159. [QxMD MEDLINE Link]. [Full Text].
Agarwal SK. The future: genetics advances in MEN1 therapeutic approaches and management strategies. Endocr Relat Cancer. 2017 Oct. 24 (10):T119-T134. [QxMD MEDLINE Link].
Dreijerink KMA, Timmers HTM, Brown M. Twenty years of menin: emerging opportunities for restoration of transcriptional regulation in MEN1. Endocr Relat Cancer. 2017 Oct. 24 (10):T135-T145. [QxMD MEDLINE Link].
Canaff L, Vanbellinghen JF, Kaji H, Goltzman D, Hendy GN. Impaired transforming growth factor-beta (TGF-ß) transcriptional activity and cell proliferation control of a menin in-frame deletion mutant associated with multiple endocrine neoplasia type 1 (MEN1). J Biol Chem. 2012 Jan 24. [QxMD MEDLINE Link].
Pack S, Turner ML, Zhuang Z, et al. Cutaneous tumors in patients with multiple endocrine neoplasia type 1 show allelic deletion of the MEN1 gene. J Invest Dermatol. 1998 Apr. 110(4):438-40. [QxMD MEDLINE Link].
Vortmeyer AO, Boni R, Pack SD, Darling TN, Zhuang Z. Perivascular cells harboring multiple endocrine neoplasia type 1 alterations are neoplastic cells in angiofibromas. Cancer Res. 1999 Jan 15. 59(2):274-8. [QxMD MEDLINE Link].
Rusconi D, Valtorta E, Rodeschini O, Giardino D, Lorenzo I, Predieri B, et al. Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion. Cancer Genet. 2011 Jun. 204(6):309-15. [QxMD MEDLINE Link].
Marx SJ. Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat Rev Cancer. 2005 May. 5(5):367-75. [QxMD MEDLINE Link].
Singh Ospina N, Thompson GB, C Nichols F 3rd, D Cassivi S, Young WF Jr. Thymic and Bronchial Carcinoid Tumors in Multiple Endocrine Neoplasia Type 1: The Mayo Clinic Experience from 1977 to 2013. Horm Cancer. 2015 Jun 13. [QxMD MEDLINE Link].
Bartsch DK, Albers MB, Lopez CL, Apitzsch JC, Walthers EM, Fink L, et al. Bronchopulmonary Neuroendocrine Neoplasms and Their Precursor Lesions in Multiple Endocrine Neoplasia Type 1. Neuroendocrinology. 2015 Jun 18. [QxMD MEDLINE Link].
Sakurai A, Hashizume K, Fukushima Y. Facial angiofibroma as an initial manifestation in multiple endocrine neoplasia type 1. Intern Med. 2008. 47(11):1067-8. [QxMD MEDLINE Link].
Roman JW, Logemann NF, Adams E. Incidental angiofibromas prompt a diagnosis of multiple endocrine neoplasia type-1 (MEN-1). Dermatol Online J. 2014 Sep 16. 20 (9):[QxMD MEDLINE Link].
Brandi ML, Agarwal SK, Perrier ND, Lines KE, Valk GD, Thakker RV. Multiple Endocrine Neoplasia Type 1: Latest Insights. Endocr Rev. 2021 Mar 15. 42 (2):133-170. [QxMD MEDLINE Link]. [Full Text].
Hoang-Xuan T, Steger JW. Adult-onset angiofibroma and multiple endocrine neoplasia type I. J Am Acad Dermatol. 1999 Nov. 41(5 Pt 2):890-2. [QxMD MEDLINE Link].
Vidal A, Iglesias MJ, Fernandez B, Fonseca E, Cordido F. Cutaneous lesions associated to multiple endocrine neoplasia syndrome type 1. J Eur Acad Dermatol Venereol. 2008 Jul. 22(7):835-8. [QxMD MEDLINE Link].
Sakurai A, Matsumoto K, Ikeo Y, et al. Frequency of facial angiofibromas in Japanese patients with multiple endocrine neoplasia type 1. Endocr J. 2000 Oct. 47(5):569-73. [QxMD MEDLINE Link].
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, et al. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol. 2021 Oct. 123:50-66. [QxMD MEDLINE Link].
Fuleihan Gel-H, Rubeiz N. Dermatologic manifestations of parathyroid-related disorders. Clin Dermatol. 2006 Jul-Aug. 24(4):281-8. [QxMD MEDLINE Link].
Xia Y, Darling TN. Rapidly growing collagenomas in multiple endocrine neoplasia type I. J Am Acad Dermatol. 2007 May. 56(5):877-80. [QxMD MEDLINE Link].
Kamilaris CDC, Stratakis CA. Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis. Front Endocrinol (Lausanne). 2019. 10:339. [QxMD MEDLINE Link]. [Full Text].
Newey PJ, Thakker RV. Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice. Endocr Pract. 2011 Jul-Aug. 17 Suppl 3:8-17. [QxMD MEDLINE Link].
Lastoria S, Marciello F, Faggiano A, Aloj L, Caracò C, Aurilio M, et al. Role of ⁶⁸Ga-DOTATATE PET/CT in patients with multiple endocrine neoplasia type 1 (MEN1). Endocrine. 2015 Aug 5. [QxMD MEDLINE Link].
Sadowski SM, Millo C, Cottle-Delisle C, Merkel R, Yang LA, Herscovitch P, et al. Results of (68)Gallium-DOTATATE PET/CT Scanning in Patients with Multiple Endocrine Neoplasia Type 1. J Am Coll Surg. 2015 Aug. 221 (2):509-17. [QxMD MEDLINE Link].
[Guideline] Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012 Sep. 97 (9):2990-3011. [QxMD MEDLINE Link]. [Full Text].
Ali FR, Mallipeddi R, Craythorne EE, Sheth N, Al-Niaimi F. Our experience of carbon dioxide laser ablation of angiofibromas: Case series and literature review. J Cosmet Laser Ther. 2016 Nov. 18 (7):372-375. [QxMD MEDLINE Link].
Weiss ET, Geronemus RG. New technique using combined pulsed dye laser and fractional resurfacing for treating facial angiofibromas in tuberous sclerosis. Lasers Surg Med. 2010 Jul. 42(5):357-60. [QxMD MEDLINE Link].
Pieterman CRC, Valk GD. Update on the clinical management of multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf). 2022 Mar 23. [QxMD MEDLINE Link].
[Guideline] Gharib H, Papini E, Garber JR, Duick DS, Harrell RM, Hegedüs L, et al. AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ASSOCIAZIONE MEDICI ENDOCRINOLOGI MEDICAL GUIDELINES FOR CLINICAL PRACTICE FOR THE DIAGNOSIS AND MANAGEMENT OF THYROID NODULES--2016 UPDATE. Endocr Pract. 2016 May. 22 (5):622-39. [QxMD MEDLINE Link].
[Guideline] Niederle B, Selberherr A, Bartsch D, et al. Multiple Endocrine Neoplasia Type 1 (MEN1) and the Pancreas - Diagnosis and Treatment of Functioning and Non-Functioning Pancreatic and Duodenal Neuroendocrine Neoplasia within the MEN1 Syndrome - An International Consensus Statement. Neuroendocrinology. 2020 Sep 24. [QxMD MEDLINE Link].
[Guideline] Torre JJ, Bloomgarden ZT, Dickey RA, Hogan MJ, Janick JJ, Jyothinagaram SG, et al. American Association of Clinical Endocrinologists Medical Guidelines for Clinical Practice for the diagnosis and treatment of hypertension. Endocr Pract. 2006 Mar-Apr. 12 (2):193-222. [QxMD MEDLINE Link].
Witchel SF, Ranganathan S, Kilpatrick M, Carty SE. Reverse referral: from pathology to endocrinology. Endocr Pathol. 2009 Spring. 20(1):78-83. [QxMD MEDLINE Link].

Media Gallery

A 27-year-old man has telangiectatic, red papules on the nose, the nasolabial fold, and the upper lip. Histologic examination of one of these lesions confirmed the clinical diagnosis of angiofibroma. In addition to multiple facial angiofibromas, this patient has multiple collagenomas and gingival papules, as well as hyperparathyroidism and a positive family history for multiple endocrine neoplasia type 1.
The shoulder of a 65-year-old man shows multiple firm, skin-colored to slightly hypopigmented papules. Biopsy results of the largest lesion revealed collagenoma. Endocrinologic features of multiple endocrine neoplasia type 1 in this patient are hyperparathyroidism and Zollinger-Ellison syndrome. Note that the photograph was taken with side lighting to accentuate the lesions.
A close-up view of a large collagenoma on the shoulder of a 65-year-old man shows multiple firm, skin-colored to slightly hypopigmented papules. Endocrinologic features of multiple endocrine neoplasia type 1 in this patient are hyperparathyroidism and Zollinger-Ellison syndrome.
A 39-year-old woman with multiple endocrine neoplasia type 1 has a soft nodule on the forehead that is consistent with lipoma. Lipomas in patients with multiple endocrine neoplasia type 1 can be single or multiple, and they are sometimes large.
On the attached gingiva of a 27-year-old man with multiple endocrine neoplasia type 1, a few small, whitish papules are present. Gingival papules are a rare and subtle finding in multiple endocrine neoplasia type 1. In addition to multiple facial angiofibromas, this patient has multiple collagenomas, hyperparathyroidism, and a positive family history for multiple endocrine neoplasia type 1.
Light microscopic evaluation of a section of an angiofibroma shows prominent vessels and concentric rings of collagen around vessels and adnexal structures (hematoxylin and eosin, original magnification X100). These findings are indistinguishable from those observed in angiofibromas in patients with tuberous sclerosis.
Histologic examination of a collagenoma reveals dense, thick collagen in the reticular dermis (hematoxylin and eosin, original magnification X40). An elastic stain showed reduced elastic fibers (not shown). Biopsy samples of collagenomas can be mistaken for healthy skin unless an elliptical excision containing surrounding healthy skin is obtained for comparison. The contrast with healthy skin accentuates the thickened dermis and collagen alterations seen in collagenomas.

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Sections Dermatologic Manifestations of Multiple Endocrine Neoplasia Type 1 (MEN1)
Overview
Presentation
DDx
Workup
Treatment
Guidelines
Questions & Answers
Media Gallery
References

Dermatologic Manifestations of Multiple Endocrine Neoplasia Type 1 (MEN1) Guidelines

Guidelines Summary

References

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