Skip to main content
SpringerLink
Log in
Book cover

Atlas of Genetic Diagnosis and Counseling pp 815–820Cite as

Progeria

  • Chapter

  • 309 Accesses

Abstract

In 1886, Hutchinson described a boy with congenital alopecia, wrinkled atrophic skin, an odd facies, joint contractures, and normal intelligence. Subsequently in 1904, Gilford reported a second patient with similar features and suggested the term progeria, from the Greek word geras meaning old age, to describe the premature senile characteristics of the patients. Thus, the syndrome is also known as Hutchinson-Gilford progeria syndrome (HGPS).

This is a preview of subscription content, log in via an institution.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Abdenur JE, Brown WT, Friedman S, et al.: Response to nutritional and growth hormone treatment in progeria. Metabolism 46:851–856, 1997.

    Article  CAS  PubMed  Google Scholar 

  2. Ackerman J, Gilbert-Barness E: Hutchinson-Gilford progeria syndrome: a pathologic study. Pediatr Pathol Mol Med 21:1–13, 2002.

    Article  PubMed  Google Scholar 

  3. Arai T, Yamashita M: An abnormal dentition in progeria. Paediatr Anaesth 12:287, 2002.

    CAS  PubMed  Google Scholar 

  4. Badame AJ: Progeria. Arch Dermatol 125:540–544, 1989.

    Article  CAS  PubMed  Google Scholar 

  5. Baker PB, Baba N, Boesel CP: Cardiovascular abnormalities in progeria: case report and review of the literature. Arch Pathol Lab Med 105:384–386, 1981.

    CAS  PubMed  Google Scholar 

  6. Batstone MD, Macleod AW: Oral and maxillofacial surgical considerations for a case of Hutchinson-Gilford progeria. Int J Paediatr Dent 12:429–432, 2002.

    Article  CAS  PubMed  Google Scholar 

  7. Beauregard S, Gilchrest BA: Syndromes of premature aging. Dermatol Clin 5:109–121, 1987.

    CAS  PubMed  Google Scholar 

  8. Brown WT, Gordon LB, Collins FS: Hutchinson-Gilford progeria syndrome. Gene Reviews, 2004. http://www.genetests.org

  9. Cao H, Hegele RA: LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet 48:271–274, 2003.

    Article  CAS  PubMed  Google Scholar 

  10. Cooke JV: The rate of growth in progeria. J Pediatr 42:26–37, 1953

    Article  CAS  PubMed  Google Scholar 

  11. Danes BS: Progeria: a cell culture study on aging. J Clin Invest 50:2000–2003, 1971.

    CAS  PubMed  Google Scholar 

  12. De Sandre-Giovannoli A, Bernard R, Cau P, et al.: Lamin a truncation in Hutchinson-Gilford progeria. Science 300:20–55, 2003.

    Article  Google Scholar 

  13. DeBusk FL: The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature. J Pediatr 80:697–724, 1972.

    Article  CAS  PubMed  Google Scholar 

  14. Delahunt B, Stehbens WE, Gilbert-Barness E, et al.: Progeria kidney has abnormal mesangial collagen distribution. Pediatr Nephrol 15:279–285, 2000.

    Article  CAS  PubMed  Google Scholar 

  15. Eriksson M, Brown WT, Gordon LB, et al.: Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423:293–298, 2003.

    Article  CAS  PubMed  Google Scholar 

  16. Faivre L, Van Kien PK, Madinier-Chappat N, et al.: Can Hutchinson-Gilford progeria syndrome be a neonatal condition? Am J Med Genet 87:450–452; discussion 453–454, 1999.

    Article  CAS  PubMed  Google Scholar 

  17. Fossel M: Human aging and progeria. J Pediatr Endocrinol Metab 13Suppl 6:1477–1481, 2000.

    PubMed  Google Scholar 

  18. Fukuchi K, Katsuya T, Sugimoto K, et al.: LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome. J Med Genet 41:e67, 2004.

    Article  CAS  PubMed  Google Scholar 

  19. Gabr M: Progeria Review of the literature with report of a case. Arc Pediatr 71:35–46, 1954.

    CAS  Google Scholar 

  20. Gabr M, Hashem N, Hashem M, et al.: Progeria, a pathologic study. J Pediatr 57:70–77, 1960.

    Article  CAS  PubMed  Google Scholar 

  21. Giannotti A, Digilio C, Mingarelli R, et al.: Progeroid syndrome with characteristic facial Appearance and hand anomalies in father and son. Am J Med Genet 73:227–229, 1997.

    Article  CAS  PubMed  Google Scholar 

  22. Gilford H: Progeria: a form of senilism. Practitioner 73:188–217, 1904.

    Google Scholar 

  23. Gillar PJ, Kaye CI, McCourt JW: Progressive early dermatologic changes in Hutchinson-Gilford progeria syndrome. Pediatr Dermatol 8:199–206, 1991.

    CAS  PubMed  Google Scholar 

  24. Guarente L: Link between aging and the nucleolus. Genes Dev 11:2449–2455, 1997.

    CAS  PubMed  Google Scholar 

  25. Hamer L, Kaplan F, Fallon M: The musculoskeletal manifestations of progeria. A literature review. Orthopedics 11:763–769, 1988.

    CAS  PubMed  Google Scholar 

  26. Ishii T: Progeria: autopsy report of one case, with a review of pathologic findings reported in the literature. J Am Geriatr Soc 24:193–202, 1976.

    CAS  PubMed  Google Scholar 

  27. Jansen T, Romiti R: Progeria infantum (Hutchinson-Gilford syndrome) associated with scleroderma-like lesions and acro-osteolysis: a case report and brief review of the literature. Pediatr Dermatol 17:282–285, 2000.

    Article  CAS  PubMed  Google Scholar 

  28. Jimbow K, Kobayashi H, Ishii M, et al.: Scar and keloid like lesions in progeria. An electron-microscopic and immunohistochemical study. Arch Dermatol 124:1261–1266, 1988.

    Article  CAS  PubMed  Google Scholar 

  29. Khalifa MM: Hutchinson-Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance. Clin Genet 35:125–132, 1989.

    Article  CAS  PubMed  Google Scholar 

  30. Liessmann CD: Anaesthesia in a child with Hutchinson-Gilford progeria. Paediatr Anaesth 11:611–614, 2001.

    Article  CAS  PubMed  Google Scholar 

  31. Luengo WD, Martinez AR, Lopez RO, et al.: Del(1)(q23) in a patient with Hutchinson-Gilford progeria. Am J Med Genet 113:298–301, 2002.

    Article  Google Scholar 

  32. Makous N, Friedman S, Yakovac W, et al.: Cardiovascular manifestations in progeria. Report of clinical and pathologic findings in a patient with severe arteriosclerotic heart disease and aortic stenosis. Am Heart J 64:334–346, 1962.

    Article  CAS  PubMed  Google Scholar 

  33. Miki T, Morishima AK, Nakura J: The genes responsible for human Progeroid syndromes. Intern Med 39:327–328, 2000.

    CAS  PubMed  Google Scholar 

  34. Moen C: Orthopaedic aspects of progeria. J Bone Joint Surg Am 64:542–546, 1982.

    CAS  PubMed  Google Scholar 

  35. Monu JU, Benka-Coker LB, Fatunde Y: Hutchinson-Gilford progeria syndrome in siblings. Report of three new cases. Skeletal Radiol 19:585–590, 1990.

    Article  CAS  PubMed  Google Scholar 

  36. Mounkes LC, Kozlov S, Hernandez L, et al.: A Progeroid syndrome in mice is caused by defects in A-type lamins. Nature 423:298–301, 2003.

    Article  CAS  PubMed  Google Scholar 

  37. Nguyen NH, Mayhew JF: Anaesthesia for a child with progeria. Paediatr Anaesth 11:370–371, 2001.

    Article  CAS  PubMed  Google Scholar 

  38. O’Brien ME, Weiss AS: A novel β(1–4) galactosyltransferase gene silent mutation (594C>T) associated with Hutchinson-Gilford progeria. Hum Mutat 17:355, 2001.

    Article  CAS  PubMed  Google Scholar 

  39. Ozonoff MB, Clemett AR: Progressive osteolysis in progeria. Am J Roentgenol Radium Ther Nucl Med 100:75–79, 1967.

    CAS  PubMed  Google Scholar 

  40. Park WY, Hwang CI, Kang MJ, et al.: Gene profile of replicative senescence is different from progeria or elderly donor. Biochem Biophys Res Commun 282:934–939, 2001.

    Article  CAS  PubMed  Google Scholar 

  41. Parkash H, Sidhu SS, Raghavan R: Hutchinson-Gilford progeria: familial occurrence. Am J Med Genet 36:431–433, 1990.

    Article  CAS  PubMed  Google Scholar 

  42. Reichel W, Garcia-Bunuel R: Pathologic findings in progeria: myocardial fibrosis and lipofuscin pigment. Am J Clin Pathol 53:243–253, 1970.

    CAS  PubMed  Google Scholar 

  43. Rodríguez JI, Péez-Alonso P, Funes R, et al.: Lethal neonatal Hutchinson-Gilford progeria syndrome. Am J Med Genet 82:242–248, 1999.

    Article  PubMed  Google Scholar 

  44. Rodriguez JI, Perez-Alonso P: Diagnosis of progeria syndrome is the only one possible. Am J Med Genet 87:453–454, 1999.

    Article  PubMed  Google Scholar 

  45. Rosenbloom AL, Kappy MS, DeBusk FL, et al.: Progeria: insulin resistance and hyperglycemia. J Pediatr 102:400–402, 1983.

    Article  CAS  PubMed  Google Scholar 

  46. Runge P, Asnis MS, Brumley GW, et al.: Hutchinson-Gilford progeria syndrome. South Med J 71:877–879, 1978.

    CAS  PubMed  Google Scholar 

  47. Sarkar PK, Shinton RA: Hutchinson-Guilford progeria syndrome. Postgrad Med J 77:312–317, 2001.

    Article  CAS  PubMed  Google Scholar 

  48. Shiraishi I, Hayashi S, Hirai E, et al.: Fatal pulmonary hypertension associated with an atypical case of Hutchinson-Gilford progeria. Pediatr Cardiol 22:530–533, 2001.

    Article  CAS  PubMed  Google Scholar 

  49. Talbot NB, Butler AM, Pratt EL, et al.: Progeria. Clinical, metabolic and pathologic studies on a patient. Am J Dis Child 69:267–279, 1945

    Google Scholar 

  50. Thomson J, Forfar JO: Progeria report of a case and review of the literature. Arch Dis Child 25:224–234, 1950.

    Article  CAS  PubMed  Google Scholar 

  51. Yu QX, Zeng LH: Progeria: report of a case and review of the literature. J Oral Pathol Med 20:86–88, 1991.

    Article  CAS  PubMed  Google Scholar 

Download references

Rights and permissions

Reprints and permissions

Copyright information

© 2006 Humana Press Inc.

About this chapter

Cite this chapter

(2006). Progeria. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. https://doi.org/10.1007/978-1-60327-161-5_153

Download citation

  • DOI: https://doi.org/10.1007/978-1-60327-161-5_153

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-681-8

  • Online ISBN: 978-1-60327-161-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation