Skip to main content

Progeria

  • Living reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling
  • 149 Accesses

Abstract

In 1886, Hutchinson (1886) described a boy with congenital alopecia, wrinkled atrophic skin, an odd facies, joint contractures, and normal intelligence. Subsequently in 1904, Gilford (1904) 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) (Thomson and Forfar 1950).

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

Access this chapter

Institutional subscriptions

References

  • Abdenur, J. E., Brown, W. T., Friedman, S., et al. (1997). Response to nutritional and growth hormone treatment in progeria. Metabolism, 46, 851–856.

    Article  CAS  PubMed  Google Scholar 

  • Ackerman, J., & Gilbert-Barness, E. (2002). Hutchinson-Gilford progeria syndrome: A pathologic study. Pediatric Pathology & Molecular Medicine, 21, 1–13.

    Article  Google Scholar 

  • Badame, A. J. (1989). Progeria. Archives of Dermatology, 125, 540–544.

    Article  CAS  PubMed  Google Scholar 

  • Baker, P. B., Baba, N., & Boesel, C. P. (1981). Cardiovascular abnormalities in progeria: Case report and review of the literature. Archives of Pathology & Laboratory Medicine, 105(384), 386.

    Google Scholar 

  • Batstone, M. D., & Macleod, A. W. (2002). Oral and maxillofacial surgical considerations for a case of Hutchinson-Gilford progeria. International Journal of Paediatric Dentistry, 12, 429–432.

    Article  CAS  PubMed  Google Scholar 

  • Cao, H., & Hegele, R. A. (2003). LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). Journal of Human Genetics, 48, 271–274.

    Article  CAS  PubMed  Google Scholar 

  • Cheung, H.-H., et al. (2015). Stem cell aging in adult progeria. Cell Regeneration, 4, 1–9.

    Article  Google Scholar 

  • Cooke, J. V. (1953). The rate of growth in progeria. Journal of Pediatrics, 42, 26–37.

    Article  CAS  PubMed  Google Scholar 

  • D’Apice, M. R., Tenconi, R., Mammi, I., et al. (2004). Paternal origin of LMNA mutations in Hutchinson-Gilford progeria. Clinical Genetics, 65, 52–54.

    Article  PubMed  Google Scholar 

  • Danes, B. S. (1971). Progeria: A cell culture study on aging. The Journal of Clinical Investigation, 50, 2000–2003.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Delahunt, B., Stehbens, W. E., Gilbert-Barness, E., et al. (2000). Progeria kidney has abnormal mesangial collagen distribution. Pediatric Nephrology, 15, 279–285.

    Article  CAS  PubMed  Google Scholar 

  • Eriksson, M., Brown, W. T., Gordon, L. B., et al. (2003). Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature, 423, 293–298.

    Article  CAS  PubMed  Google Scholar 

  • Evangelisti, C., Cenni, V., & Lattanzi, G. (2016). Potential therapeutic effects of the MTOR inhibitors for preventing ageing and progeria-related disorders. British Journal of Clinical Pharmacology. 8 Mar 2016. [Epub ahead of print].

    Google Scholar 

  • Fukuchi, K., Katsuya, T., Sugimoto, K., et al. (2004). LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome. Journal of Medical Genetics, 41, e67.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Giannotti, A., Digilio, C., Mingarelli, R., et al. (1997). Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son. American Journal of Medical Genetics, 73, 227–229.

    Article  CAS  PubMed  Google Scholar 

  • Gilford, H. (1904). Progeria: A form of senilism. Practitioner, 73, 188–217.

    Google Scholar 

  • Gillar, P. J., Kaye, C. I., & McCourt, J. W. (1991). Progressive early dermatologic changes in Hutchinson-Gilford progeria syndrome. Pediatric Dermatology, 8, 199–206.

    Article  CAS  PubMed  Google Scholar 

  • Gordon, L. B., Brown, W. T., & Collins, F. S. (2015). Hutchinson-Gilford progeria syndrome. GeneReviews. Updated 8 Jan 2015. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1121/

  • Goto, M., Ishikawa, Y., Sugimot, M., et al. (2013). Werner syndrome: a changing pattern of clinical manifestations in Japan (1917 ~ 2008). Bioscience Trends, 7, 13–22.

    CAS  PubMed  Google Scholar 

  • Gottron, H. (1941). Familiare acrogerie. Archives of Dermatology, 181, 571–583.

    Article  Google Scholar 

  • Hamer, L., Kaplan, F., & Fallon, M. (1988). The musculoskeletal manifestations of progeria. A literature review. Orthopedics, 11, 763–769.

    CAS  PubMed  Google Scholar 

  • Hutchinson, J. (1886). Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Lancet, I, 923.

    Google Scholar 

  • Ishii, T. (1976). Progeria: Autopsy report of one case, with a review of pathologic findings reported in the literature. Journal of the American Geriatrics Society, 24, 193–202.

    Article  CAS  PubMed  Google Scholar 

  • Jansen, T., & Romiti, R. (2000). Progeria infantum (Hutchinson-Gilford syndrome) associated with scleroderma-like lesions and acro-osteolysis: A case report and brief review of the literature. Pediatric Dermatology, 17, 282–285.

    Article  CAS  PubMed  Google Scholar 

  • Jimbow, K., Kobayashi, H., Ishii, M., et al. (1988). Scar and keloidlike lesions in progeria. An electron-microscopic and immunohistochemical study. Archives of Dermatology, 124, 1261–1266.

    Article  CAS  PubMed  Google Scholar 

  • Khalifa, M. M. (1989). Hutchinson-Gilford progeria syndrome: Report of a Libyan family and evidence of autosomal recessive inheritance. Clinical Genetics, 35, 125–132.

    Article  CAS  PubMed  Google Scholar 

  • Kieran, M. W., Gordon, L., & Kleinman, M. (2007). New approaches to progeria. Pediatrics, 120, 834–841.

    Article  PubMed  Google Scholar 

  • Laugel, V. (2012). Cockayne syndrome. GeneReviews. Updated 1 June 2012. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1342/

  • Liessmann, C. D. (2001). Anaesthesia in a child with Hutchinson-Gilford progeria. Paediatric Anaesthesia, 11, 611–614.

    Article  CAS  PubMed  Google Scholar 

  • Luengo, W. D., Martinez, A. R., Lopez, R. O., et al. (2002). Del(1)(q23) in a patient with Hutchinson-Gilford progeria. American Journal of Medical Genetics, 113, 298–301.

    Article  Google Scholar 

  • Makous, N., Friedman, S., Yakovac, W., et al. (1962). Cardiovascular manifestations in progeria. Report of clinical and pathologic findings in a patient with severe arteriosclerotic heart disease and aortic stenosis. American Heart Journal, 64, 334–346.

    Article  CAS  PubMed  Google Scholar 

  • Moen, C. (1982). Orthopaedic aspects of progeria. Journal of Bone and Joint Surgery, 64, 542–546.

    CAS  PubMed  Google Scholar 

  • Monu, J. U., Benka-Coker, L. B., & Fatunde, Y. (1990). Hutchinson-Gilford progeria syndrome in siblings. Report of three new cases. Skeletal Radiology, 19, 585–590.

    Article  CAS  PubMed  Google Scholar 

  • Muftuoglu, M., Oshima, J., von Kobbe, C., et al. (2008). The clinical characteristics of Werner syndrome: Molecular and biochemical diagnosis. Human Genetics, 124, 369–377.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Nguyen, N. H., & Mayhew, J. F. (2001). Anaesthesia for a child with progeria. Paediatric Anaesthesia, 11, 370–371.

    Article  CAS  PubMed  Google Scholar 

  • Ozonoff, M. B., & Clemett, A. R. (1967). Progressive osteolysis in progeria. The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine, 100, 75–79.

    Article  CAS  PubMed  Google Scholar 

  • Parkash, H., Sidhu, S. S., & Raghavan, R. (1990). Hutchinson-Gilford progeria: Familial occurrence. American Journal of Medical Genetics, 36, 431–433.

    Article  CAS  PubMed  Google Scholar 

  • Pollex, R. L., & Hegele, R. A. (2004). Hutchinson-Gilford progeria syndrome. Clinical Genetics, 66, 375–381.

    Article  CAS  PubMed  Google Scholar 

  • Reichel, W., & Garcia-Bunuel, R. (1970). Pathologic findings in progeria: Myocardial fibrosis and lipofuscin pigment. American Journal of Clinical Pathology, 53, 243–253.

    Article  CAS  PubMed  Google Scholar 

  • Reichert, C., Götz, L., Götz, W., et al. (2014). Dental and craniofacial characteristics in a patient with Hutchinson–Gilford progeria syndrome. Journal of Orofacial Orthopedics, 75, 251–263.

    Article  PubMed  Google Scholar 

  • Rodríguez, J. I., & Pérez-Alonso, P. (1999). Diagnosis of progeria syndrome is the only one possible. American Journal of Medical Genetics, 87, 453–454.

    Article  PubMed  Google Scholar 

  • Rodríguez, J. I., Pérez-Alonso, P., Funes, R., et al. (1999). Lethal neonatal Hutchinson-Gilford progeria syndrome. American Journal of Medical Genetics, 82, 242–248.

    Article  PubMed  Google Scholar 

  • Rosenbloom, A. L., Kappy, M. S., DeBusk, F. L., et al. (1983). Progeria: Insulin resistance and hyperglycemia. Journal of Pediatrics, 102, 400–402.

    Article  CAS  PubMed  Google Scholar 

  • Runge, P., Asnis, M. S., Brumley, G. W., et al. (1978). Hutchinson-Gilford progeria syndrome. Southern Medical Journal, 71, 877–879.

    Article  CAS  PubMed  Google Scholar 

  • Sarkar, P. K., & Shinton, R. A. (2001). Hutchinson-Guilford progeria syndrome. Postgraduate Medical Journal, 77, 312–317.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Swahari, V., & Nakamura, A. (2016). Speeding up the clock: The past, present and future of progeria. Development, Growth & Differentiation, 58, 116–130.

    Article  Google Scholar 

  • Thomson, J., & Forfar, J. O. (1950). Progeria (Hutchinson-Gilford syndrome). Report of a case and review of the literature. Archives of Disease in Childhood, 25, 224–234.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Vidak, S., & Foisner, R. (2016). Molecular insights into the premature aging disease progeria. Histochemistry and Cell Biology, 145, 401–417.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Wuyts, W., Biervliet, M., Reyniers, E., et al. (2005). Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. American Journal of Medical Genetics, 135A, 66–68.

    Article  Google Scholar 

  • Yu, Q. X., & Zeng, L. H. (1991). Progeria: Report of a case and review of the literature. Journal of Oral Pathology & Medicine, 20, 86–88.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Harold Chen .

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer Science+Business Media New York

About this entry

Cite this entry

Chen, H. (2016). Progeria. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_197-2

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_197-2

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

Publish with us

Policies and ethics