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Multiple Endocrine Neoplasia Type 1: Differential Diagnoses & Workup

Author: Thomas N Darling, MD, PhD, Director of Dermatologic Research, Associate Professor of Dermatology, Department of Dermatology, Uniformed Services University of the Health Sciences
Contributor Information and Disclosures

Updated: Oct 16, 2008

Differential Diagnoses

Birt-Hogg-Dube Syndrome
Trichilemmoma
Connective Tissue Nevus
Trichoepithelioma
Cowden Disease (Multiple Hamartoma Syndrome)
Trichofolliculoma
Fibrous Papule of the Face
Tuberous Sclerosis
Nevi, Melanocytic
Syringoma

Other Problems to Be Considered

Familial cutaneous collagenoma
Familial multiple lipomas
Multiple familial trichoepithelioma

Workup

Laboratory Studies

  • The observation of multiple facial angiofibromas, collagenomas, and lipomas does not establish the diagnosis of multiple endocrine neoplasia type 1 (MEN1). These cutaneous findings indicate the need for further testing for MEN1 (and/or tuberous sclerosis, depending on the overall clinical picture), including both blood studies to examine for evidence of hormone hypersecretion and imaging studies to look for the presence of tumors. DNA testing is available but identifies a mutation in only about 80% of patients with familial MEN1.1

Procedures

  • Skin biopsy may or may not be required, depending on the clinical appearance, the physician's experience, and whether the skin findings are being used to help establish the diagnosis of MEN1.

Histologic Findings

The histologic features of angiofibroma include dermal fibrosis, ectatic blood vessels, and stellate cells in the upper dermis.

The histologic features of collagenoma include increased amounts of collagen and normal or decreased numbers of elastic fibers. The features of the collagenoma may appear normal unless the biopsy sample includes surrounding healthy skin.

The histologic features of lipoma include a circumscribed nodule of uniform adipocytes.

More on Multiple Endocrine Neoplasia Type 1

Overview: Multiple Endocrine Neoplasia Type 1
Differential Diagnoses & Workup: Multiple Endocrine Neoplasia Type 1
Treatment & Medication: Multiple Endocrine Neoplasia Type 1
Follow-up: Multiple Endocrine Neoplasia Type 1
Multimedia: Multiple Endocrine Neoplasia Type 1
References
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References

  1. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. Dec 2001;86(12):5658-71. [Medline].

  2. 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. Nov 2004;89(11):5328-36. [Medline].

  3. Agarwal SK, Kennedy PA, Scacheri PC, Novotny EA, Hickman AB, Cerrato A, et al. Menin molecular interactions: insights into normal functions and tumorigenesis. Horm Metab Res. Jun 2005;37(6):369-74. [Medline].

  4. Lemos MC, Thakker RV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat. Jan 2008;29(1):22-32. [Medline].

  5. Pack S, Turner ML, Zhuang Z, Vortmeyer AO, Böni R, Skarulis M, et al. Cutaneous tumors in patients with multiple endocrine neoplasia type 1 show allelic deletion of the MEN1 gene. J Invest Dermatol. Apr 1998;110(4):438-40. [Medline].

  6. Vortmeyer AO, Böni R, Pack SD, Darling TN, Zhuang Z. Perivascular cells harboring multiple endocrine neoplasia type 1 alterations are neoplastic cells in angiofibromas. Cancer Res. Jan 15 1999;59(2):274-8. [Medline].

  7. Marx SJ. Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat Rev Cancer. May 2005;5(5):367-75. [Medline].

  8. 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. Jul 1997;133(7):853-7. [Medline].

  9. Hoang-Xuan T, Steger JW. Adult-onset angiofibroma and multiple endocrine neoplasia type I. J Am Acad Dermatol. Nov 1999;41(5 Pt 2):890-2. [Medline].

  10. 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. [Medline].

  11. Vidal A, Iglesias MJ, Fernández B, Fonseca E, Cordido F. Cutaneous lesions associated to multiple endocrine neoplasia syndrome type 1. J Eur Acad Dermatol Venereol. Jul 2008;22(7):835-8. [Medline].

  12. Sakurai A, Matsumoto K, Ikeo Y, Nishio SI, Kakizawa T, Arakura F, et al. Frequency of facial angiofibromas in Japanese patients with multiple endocrine neoplasia type 1. Endocr J. Oct 2000;47(5):569-73. [Medline].

  13. Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol. Sep 2004;19(9):643-9. [Medline].

  14. Fuleihan Gel-H, Rubeiz N. Dermatologic manifestations of parathyroid-related disorders. Clin Dermatol. Jul-Aug 2006;24(4):281-8. [Medline].

  15. Xia Y, Darling TN. Rapidly growing collagenomas in multiple endocrine neoplasia type I. J Am Acad Dermatol. May 2007;56(5):877-80. [Medline].

  16. Bittencourt RC, Huilgol SC, Seed PT, Calonje E, Markey AC, Barlow RJ. Treatment of angiofibromas with a scanning carbon dioxide laser: a clinicopathologic study with long-term follow-up. J Am Acad Dermatol. Nov 2001;45(5):731-5. [Medline].

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Further Reading

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Keywords

multiple endocrine neoplasia type 1, MEN-1, Wermer syndrome, multiple endocrine adenomatosis, MEN1, endocrine tumors, cutaneous tumors, angiofibromas, collagenomas, lipomas

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Contributor Information and Disclosures

Author

Thomas N Darling, MD, PhD, Director of Dermatologic Research, Associate Professor of Dermatology, Department of Dermatology, Uniformed Services University of the Health Sciences
Thomas N Darling, MD, PhD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Terry L Barrett, MD, Director, Associate Professor, Department of Dermatology, Division of Dermatopathology and Oral Pathology, Johns Hopkins University School of Medicine
Terry L Barrett, MD is a member of the following medical societies: American Academy of Dermatology, American Dermatological Association, American Medical Association, American Society of Dermatopathology, College of American Pathologists, and United States and Canadian Academy of Pathology
Disclosure: Nothing to disclose.

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA
Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Lester F Libow, MD, Dermatopathologist, South Texas Dermatopathology Laboratory
Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Texas Medical Association
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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