Progeria differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

Hutchinson-Gilford progeria syndrome (HGPS) must be differentiated from other diseases such as Atypical progeria syndromes, Restrictive dermopathy, Familial partial lipodystrophy (FPLD), Wiedemann-Rautenstrauch syndrome, Congenital generalized lipodystrophy, Cockayne syndrome, Mandibuloacral dysplasia and Petty-Laxova-Wiedemann progeroid syndrome.

Differentiating progeria from other Diseases

Hutchinson-Gilford progeria syndrome (HGPS) must be differentiated from the following:[1]

  • Atypical progeria syndromes
  • Restrictive dermopathy[2]
  • Familial partial lipodystrophy (FPLD)
  • Wiedemann-Rautenstrauch syndrome[3]
  • Congenital generalized lipodystrophy[4]
  • Cockayne syndrome
  • Mandibuloacral dysplasia[5]
  • Petty-Laxova-Wiedemann progeroid syndrome[6]


References

  1. Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT; et al. (2014). "New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update". Eur J Hum Genet. 22 (8): 1002–11. doi:10.1038/ejhg.2013.258. PMC 4350588. PMID 24169522.
  2. Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF; et al. (1998). "Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology". Arch Dermatol. 134 (5): 577–9. doi:10.1001/archderm.134.5.577. PMID 9606327.
  3. Paolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B; et al. (2017). "Wiedemann-Rautenstrauch syndrome: A phenotype analysis". Am J Med Genet A. 173 (7): 1763–1772. doi:10.1002/ajmg.a.38246. PMID 28447407.
  4. Lightbourne M, Brown RJ (2017). "Genetics of Lipodystrophy". Endocrinol Metab Clin North Am. 46 (2): 539–554. doi:10.1016/j.ecl.2017.01.012. PMC 5424609. PMID 28476236.
  5. Cenni V, D'Apice MR, Garagnani P, Columbaro M, Novelli G, Franceschi C; et al. (2018). "Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing". Ageing Res Rev. 42: 1–13. doi:10.1016/j.arr.2017.12.001. PMID 29208544.
  6. Delgado-Luengo WN, Petty EM, Solís-Añez E, Römel O, Delgado-Luengo J, Hernández ML; et al. (2009). "Petty-Laxova-Wiedemann progeroid syndrome: further phenotypical delineation and confirmation of a rare syndrome of premature aging". Am J Med Genet A. 149A (10): 2200–5. doi:10.1002/ajmg.a.32884. PMID 19725131.