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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Progeria differential diagnosis

Introduction

Overview

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

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

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.

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