Progeria differential diagnosis: Difference between revisions
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==Overview== | ==Overview== | ||
[ | [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) must be differentiated from other diseases such as Atypical [[progeria]] syndromes, [[Restrictive dermopathy]], [[Familial partial lipodystrophy type 1|Familial partial lipodystrophy]] (FPLD), [[Wiedemann–Rautenstrauch syndrome|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:<ref name="pmid24169522">{{cite journal| author=Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT et al.| title=New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update. | journal=Eur J Hum Genet | year= 2014 | volume= 22 | issue= 8 | pages= 1002-11 | pmid=24169522 | doi=10.1038/ejhg.2013.258 | pmc=4350588 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24169522 }}</ref> | |||
* Atypical progeria syndromes | |||
* Restrictive dermopathy<ref name="pmid96063272">{{cite journal| author=Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF et al.| title=Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology. | journal=Arch Dermatol | year= 1998 | volume= 134 | issue= 5 | pages= 577-9 | pmid=9606327 | doi=10.1001/archderm.134.5.577 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9606327 }}</ref> | |||
* Familial partial lipodystrophy (FPLD) | |||
* Wiedemann-Rautenstrauch syndrome<ref name="pmid28447407">{{cite journal| author=Paolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B et al.| title=Wiedemann-Rautenstrauch syndrome: A phenotype analysis. | journal=Am J Med Genet A | year= 2017 | volume= 173 | issue= 7 | pages= 1763-1772 | pmid=28447407 | doi=10.1002/ajmg.a.38246 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28447407 }}</ref> | |||
* Congenital generalized lipodystrophy<ref name="pmid28476236">{{cite journal| author=Lightbourne M, Brown RJ| title=Genetics of Lipodystrophy. | journal=Endocrinol Metab Clin North Am | year= 2017 | volume= 46 | issue= 2 | pages= 539-554 | pmid=28476236 | doi=10.1016/j.ecl.2017.01.012 | pmc=5424609 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28476236 }}</ref> | |||
* Cockayne syndrome | |||
*Mandibuloacral dysplasia<ref name="pmid29208544">{{cite journal| author=Cenni V, D'Apice MR, Garagnani P, Columbaro M, Novelli G, Franceschi C et al.| title=Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing. | journal=Ageing Res Rev | year= 2018 | volume= 42 | issue= | pages= 1-13 | pmid=29208544 | doi=10.1016/j.arr.2017.12.001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29208544 }}</ref> | |||
*Petty-Laxova-Wiedemann progeroid syndrome<ref name="pmid19725131">{{cite journal| author=Delgado-Luengo WN, Petty EM, Solís-Añez E, Römel O, Delgado-Luengo J, Hernández ML et al.| title=Petty-Laxova-Wiedemann progeroid syndrome: further phenotypical delineation and confirmation of a rare syndrome of premature aging. | journal=Am J Med Genet A | year= 2009 | volume= 149A | issue= 10 | pages= 2200-5 | pmid=19725131 | doi=10.1002/ajmg.a.32884 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19725131 }}</ref> | |||
==References== | ==References== | ||
Latest revision as of 15:28, 9 August 2019
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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
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.