Werner Syndrome Workup

  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Jun 13, 2016
 

Laboratory Studies

Perform a thorough clinical and laboratory examination, keeping in mind Werner syndrome (WS) patients' increased risk of neoplasms.

WS has no specific laboratory abnormalities. Any laboratory abnormalities are related to concomitant diseases, especially diabetes mellitus, arteriosclerosis, and hypogonadism, which are often seen in WS.

One should perform the following:

  • Fasting blood glucose test
  • Oral glucose tolerance test
  • Triiodothyronine, levothyroxine, and thyrotropin tests
  • Appropriate vascular studies

Diabetes mellitus is of the late-onset type.

One should check the blood glucose level.

An oral glucose tolerance test should be performed.

Atherosclerosis should be evaluated with a lipid profile.

An elevated low-density-lipoprotein cholesterol level and a high triglyceride level associated with a low high-density-lipoprotein cholesterol level are the risk factors for atherosclerotic vascular disease.

The National Cholesterol Education Program has issued guidelines for the diagnosis and optimal treatment of hyperlipidemia.

Hypogonadism is usually due to intestinal fibrosis.

One should check estradiol, progesterone, and luteinizing hormone/follicle-stimulating hormone (LH/FSH) levels in the sera of female patients.

One should check testosterone and LH/FSH in the sera of male patients.

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Other Tests

Both genetic testing and clinical criteria may not establish the diagnosis is some people. Gene testing can be salient to confirm autosomal recessive inheritance.[5]

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Histologic Findings

The skin and subcutaneous tissue of the extremities, especially where it is taut on clinical examination, shows epidermal thinning, loss of rete ridges, and dermal fibrosis with or without collagen hyalinization. Pilosebaceous structures are not well formed. Newly synthesized hyalinized collagen tends to replace the subcutaneous fat. No inflammatory infiltrate is usually evident.

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Contributor Information and Disclosures
Author

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Coauthor(s)

Anna Wozniacka, MD, PhD Professor, Department of Dermatology, Medical University of Lodz, Poland

Anna Wozniacka, MD, PhD is a member of the following medical societies: European Academy of Dermatology and Venereology, Polish Dermatological Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Franklin Flowers, MD Department of Dermatology, Professor Emeritus Affiliate Associate Professor of Pathology, University of Florida College of Medicine

Franklin Flowers, MD is a member of the following medical societies: American College of Mohs Surgery

Disclosure: Nothing to disclose.

References
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  2. Davis T, Wyllie FS, Rokicki MJ, Bagley MC, Kipling D. The role of cellular senescence in Werner syndrome: toward therapeutic intervention in human premature aging. Ann N Y Acad Sci. 2007 Apr. 1100:455-69. [Medline].

  3. Zhao N, Hao F, Qu T, Zuo YG, Wang BX. A novel mutation of the WRN gene in a Chinese patient with Werner syndrome. Clin Exp Dermatol. 2008 May. 33(3):278-81. [Medline].

  4. Davis T, Brook AJ, Rokicki MJ, Bagley MC, Kipling D. Evaluating the Role of p38 MAPK in the Accelerated Cell Senescence of Werner Syndrome Fibroblasts. Pharmaceuticals (Basel). 2016 Apr 28. 9 (2):[Medline].

  5. Hisama FM, Kubisch C, Martin GM, Oshima J. Clinical utility gene card for: Werner syndrome. Eur J Hum Genet. 2012 Jan 18. [Medline].

  6. Saha B, Lessel D, Nampoothiri S, Rao AS, Hisama FM, Peter D, et al. Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry. Mol Genet Genomic Med. 2013 May 1. 1(1):7-14. [Medline]. [Full Text].

  7. Mansur AT, Elçioglu NH, Demirci GT. Werner syndrome: clinical evaluation of two cases and a novel mutation. Genet Couns. 2014. 25(2):119-27. [Medline].

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  13. McKenna T, Sola Carvajal A, Eriksson M. Skin Disease in Laminopathy-Associated Premature Aging. J Invest Dermatol. 2015 Jul 29. [Medline].

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  16. Takada-Watanabe A, Yokote K, Takemoto M, Fujimoto M, Irisuna H, Honjo S, et al. A case of Werner syndrome without metabolic abnormality: implications for the early pathophysiology. Geriatr Gerontol Int. 2012 Jan. 12(1):140-6. [Medline].

  17. Lauper JM, Krause A, Vaughan TL, Monnat RJ Jr. Spectrum and risk of neoplasia in Werner syndrome: a systematic review. PLoS One. 2013. 8(4):e59709. [Medline]. [Full Text].

  18. Mitamura Y, Azuma S, Matsumoto D, Takada-Watanabe A, Takemoto M, Yokote K, et al. Case of sarcomatoid carcinoma occurring in a patient with Werner syndrome. J Dermatol. 2016 Apr 14. [Medline].

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  22. Oshitari T, Kitahashi M, Mizuno S, Baba T, Kubota-Taniai M, Takemoto M, et al. Werner syndrome with refractory cystoid macular edema and immunohistochemical analysis of WRN proteins in human retinas. BMC Ophthalmol. 2014 Mar 12. 14:31. [Medline]. [Full Text].

 
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