eMedicine Specialties > Dermatology > Pediatric Diseases

Werner Syndrome: Differential Diagnoses & Workup

Author: Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School
Coauthor(s): Anna Wozniacka, MD, PhD, Adjunct Lecturer, Department of Dermatology, Medical University of Lodz, Poland
Contributor Information and Disclosures

Updated: Apr 23, 2008

Differential Diagnoses

Mixed Connective Tissue Disease
Rothmund-Thomson Syndrome
Systemic Sclerosis

Other Problems to Be Considered

Acrogeria (Gottron syndrome)
Alzheimer disease (presenile dementia, senile dementia)

Workup

Laboratory Studies

  • Perform a thorough clinical and laboratory examination, keeping in mind the patient's 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.

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.

More on Werner Syndrome

Overview: Werner Syndrome
Differential Diagnoses & Workup: Werner Syndrome
Treatment & Medication: Werner Syndrome
Follow-up: Werner Syndrome
Multimedia: Werner Syndrome
References
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References

  1. Nehlin JO, Skovgaard GL, Bohr VA. The Werner syndrome. A model for the study of human aging. Ann N Y Acad Sci. Jun 2000;908:167-79. [Medline].

  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. Apr 2007;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. May 2008;33(3):278-81. [Medline].

  4. Pirzio LM, Pichierri P, Bignami M, Franchitto A. Werner syndrome helicase activity is essential in maintaining fragile site stability. J Cell Biol. Jan 28 2008;180(2):305-14. [Medline].

  5. Kyng KJ, Bohr VA. Gene expression and DNA repair in progeroid syndromes and human aging. Ageing Res Rev. Nov 2005;4(4):579-602. [Medline].

  6. Ariyoshi K, Suzuki K, Goto M, Watanabe M, Kodama S. Increased Chromosome Instability and Accumulation of DNA Double-strand Breaks in Werner Syndrome Cells. J Radiat Res (Tokyo). May 2007;48(3):219-31. [Medline].

  7. Barak Y, Sirota P, Kimhi R, Slor H. Werner's syndrome (adult progeria): an affected mother and son presenting with resistant psychosis. Compr Psychiatry. Nov-Dec 2001;42(6):508-10. [Medline].

  8. Bohr VA, Souza Pinto N, Nyaga SG, Dianov G, Kraemer K, Seidman MM, et al. DNA repair and mutagenesis in Werner syndrome. Environ Mol Mutagen. 2001;38(2-3):227-34. [Medline].

  9. Brosh RM Jr, Bohr VA. Roles of the Werner syndrome protein in pathways required for maintenance of genome stability. Exp Gerontol. Apr 2002;37(4):491-506. [Medline].

  10. Fossel M. Human aging and progeria. J Pediatr Endocrinol Metab. 2000;13 Suppl 6:1477-81. [Medline].

  11. Harrigan JA, Wilson DM, Prasad R, Opresko PL, Beck G, May A, et al. The Werner syndrome protein operates in base excision repair and cooperates with DNA polymerase beta. Nucleic Acids Res. Jan 30 2006;34(2):745-54. [Medline].

  12. Hrabko RP, Milgrom H, Schwartz RA. Werner's syndrome with associated malignant neoplasms. Arch Dermatol. Feb 1982;118(2):106-8. [Medline].

  13. Ishikawa Y, Miller RW, Machinami R, Sugano H, Goto M. Atypical osteosarcomas in Werner Syndrome (adult progeria). Jpn J Cancer Res. Dec 2000;91(12):1345-9. [Medline].

  14. Machwe A, Xiao L, Orren DK. Length-dependent degradation of single-stranded 3' ends by the Werner syndrome protein (WRN): implications for spatial orientation and coordinated 3' to 5' movement of its ATPase/helicase and exonuclease domains. BMC Mol Biol. 2006;7:6. [Medline].

  15. Navarro CL, Cau P, Levy N. Molecular bases of progeroid syndromes. Hum Mol Genet. Oct 15 2006;15 Spec No 2:R151-61. [Medline].

  16. Opresko PL, Laine JP, Brosh RM Jr, Seidman MM, Bohr VA. Coordinate action of the helicase and 3' to 5' exonuclease of Werner syndrome protein. J Biol Chem. Nov 30 2001;276(48):44677-87. [Medline].

  17. Oshima J. The Werner syndrome protein: an update. Bioessays. Oct 2000;22(10):894-901. [Medline].

  18. Shibuya H, Kato A, Kai N, Fujiwara S, Goto M. A case of Werner syndrome with three primary lesions of malignant melanoma. J Dermatol. Sep 2005;32(9):737-44. [Medline].

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Further Reading

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Keywords

progeria adultorum, progeria of the adult, pangeria, WS, premature aging disorders, Werner's syndrome

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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, 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, Adjunct Lecturer, 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
Disclosure: Nothing to disclose.

Medical Editor

Franklin Flowers, MD, Chief, Division of Dermatology, Professor, Department of Medicine and Otolaryngology, University of Florida College of Medicine
Franklin Flowers, MD is a member of the following medical societies: American College of Mohs Micrographic Surgery and Cutaneous Oncology
Disclosure: Nothing to disclose.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Glen H Crawford, MD, Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital
Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons
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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