Progeria differential diagnosis: Difference between revisions

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{{CMG}}; {{AE}} {{VKG}}
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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 (FPLD), Wiedemann-Rautenstrauch syndrome, Congenital generalized lipodystrophy, Cockayne syndrome, Mandibuloacral dysplasia and Petty-Laxova-Wiedemann progeroid syndrome  
[[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 [Disease name] from other Diseases==
==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>
[[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
* 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>
* 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)
* Familial partial lipodystrophy (FPLD)
* Wiedemann-Rautenstrauch syndrome
* 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
* 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
* Cockayne syndrome
*Mandibuloacral dysplasia
*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
*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>


OR
As [disease name] manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. [Subtype name 1] must be differentiated from other diseases that cause [clinical feature 1], such as [differential dx1] and [differential dx2]. In contrast, [subtype name 2] must be differentiated from other diseases that cause [clinical feature 2], such as [differential dx3] and [differential dx4].
===Differentiating [disease name] from other diseases on the basis of [symptom 1], [symptom 2], and [symptom 3]===
On the basis [symptom 1], [symptom 2], and [symptom 3], [disease name] must be differentiated from [disease 1], [disease 2], [disease 3], [disease 4], [disease 5], and [disease 6].
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! rowspan="4"  style="background: #4479BA; color: #FFFFFF; text-align: center;|Diseases
| colspan="6" rowspan="1"  style="background: #4479BA; color: #FFFFFF; text-align: center;|'''Clinical manifestations'''
! colspan="7" rowspan="2"  style="background: #4479BA; color: #FFFFFF; text-align: center;|Para-clinical findings
| colspan="1" rowspan="4"  style="background: #4479BA; color: #FFFFFF; text-align: center;|'''Gold standard'''
! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;|Additional findings
|-
| colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|'''Symptoms'''
! colspan="3" rowspan="2"  style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical examination
|-
! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab Findings
! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|Histopathology
|-
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom 1
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom 2
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom 3
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 1
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 2
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 3
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab 1
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab 2
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab 3
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging 1
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging 2
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging 3
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 1
| style="background: #F5F5F5; padding: 5px;" |
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|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 2
| style="background: #F5F5F5; padding: 5px;" |
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|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 3
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
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|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
!Diseases
!Symptom 1
! colspan="1" rowspan="1" |Symptom 2
!Symptom 3
!Physical exam 1
! colspan="1" rowspan="1" |Physical exam 2
!Physical exam 3
!Lab 1
!Lab 2
!Lab 3
!Imaging 1
!Imaging 2
!Imaging 3
!Histopathology
|'''Gold standard'''
!Additional findings
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 4
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
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|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 5
| style="background: #F5F5F5; padding: 5px;" |
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| style="background: #F5F5F5; padding: 5px;" |
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| style="background: #F5F5F5; padding: 5px;" |
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 6
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
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|}


==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

  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.

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