Fabry's disease differential diagnosis: Difference between revisions

Jump to navigation Jump to search
← Older editNewer edit →
VisualWikitext
Ghsanadgol (talk | contribs)
226 edits
Ghsanadgol (talk | contribs)
226 edits
Line 4: Line 4:
{| class="wikitable"
{| class="wikitable"
|+
|+
!
!Organ
!
!Sing/Symptom
!Fabry's disease  
!Fabry's disease
!
!Possible differential diagnosis
!
!DDx Clues
!
!Further inf
|-
|-
| rowspan="3" |Skin
| rowspan="7" |Skin
| rowspan="3" |Angiokeratoma<br />
| rowspan="3" |Angiokeratoma<br />
| rowspan="3" |
| rowspan="3" |
* Mean age: 17 years
*Mean age: 17 years
* Locations: Mostly [[Hip (anatomy)|Hips]], [[Groin area|Groin]], [[Periumbilical]]
*Locations: Mostly [[Hip (anatomy)|Hips]], [[Groin area|Groin]], [[Periumbilical]]
|[[Fucosidosis]]<ref name="pmid33266441">{{cite journal| author=Stepien KM, Ciara E, Jezela-Stanek A| title=Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series. | journal=Genes (Basel) | year= 2020 | volume= 11 | issue= 11 | pages=  | pmid=33266441 | doi=10.3390/genes11111383 | pmc=7700486 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33266441  }}</ref>
|[[Fucosidosis]]<ref name="pmid33266441">{{cite journal| author=Stepien KM, Ciara E, Jezela-Stanek A| title=Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series. | journal=Genes (Basel) | year= 2020 | volume= 11 | issue= 11 | pages=  | pmid=33266441 | doi=10.3390/genes11111383 | pmc=7700486 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33266441  }}</ref>
|
|
Line 29: Line 29:
|[[Sialidosis]] (Juvenile foem)<ref name="pmid22452439">{{cite journal| author=Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR, Manco S, Gnarra M | display-authors=etal| title=Angiokeratoma: decision-making aid for the diagnosis of Fabry disease. | journal=Br J Dermatol | year= 2012 | volume= 166 | issue= 4 | pages= 712-20 | pmid=22452439 | doi=10.1111/j.1365-2133.2012.10742.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22452439  }}</ref>
|[[Sialidosis]] (Juvenile foem)<ref name="pmid22452439">{{cite journal| author=Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR, Manco S, Gnarra M | display-authors=etal| title=Angiokeratoma: decision-making aid for the diagnosis of Fabry disease. | journal=Br J Dermatol | year= 2012 | volume= 166 | issue= 4 | pages= 712-20 | pmid=22452439 | doi=10.1111/j.1365-2133.2012.10742.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22452439  }}</ref>
|
|
* Mean age : 2 years
*Mean age : 2 years
* Location: Diffuse  
*Location: Diffuse
|
|
* The clinical appearance of the lesions may be indistinguishable.
*The clinical appearance of the lesions may be indistinguishable.
* Should Investigate accompanying symptoms
*Should Investigate accompanying symptoms
|-
|-
|[[Acral pseudolymphomatous]] angiokeratoma of childhood<ref name="pmid20465644">{{cite journal| author=Chedraoui A, Malek J, Tamraz H, Zaynoun S, Kibbi AG, Ghosn S| title=Acral pseudolymphomatous angiokeratoma of children in an elderly man: report of a case and review of the literature. | journal=Int J Dermatol | year= 2010 | volume= 49 | issue= 2 | pages= 184-8 | pmid=20465644 | doi=10.1111/j.1365-4632.2009.04203.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20465644  }}</ref>
|[[Acral pseudolymphomatous]] angiokeratoma of childhood<ref name="pmid20465644">{{cite journal| author=Chedraoui A, Malek J, Tamraz H, Zaynoun S, Kibbi AG, Ghosn S| title=Acral pseudolymphomatous angiokeratoma of children in an elderly man: report of a case and review of the literature. | journal=Int J Dermatol | year= 2010 | volume= 49 | issue= 2 | pages= 184-8 | pmid=20465644 | doi=10.1111/j.1365-4632.2009.04203.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20465644  }}</ref>
|
|
* Mainly children
*Mainly children
* Location: Trunk and exterimities
*Location: Trunk and exterimities
|
|
* Should Investigate accompanying symptoms
*Should Investigate accompanying symptoms
|-
|-
| rowspan="4" |[[Hypohidrosis]]/[[Anhidrosis]]
| rowspan="4" |
* Mean age: Mostly in the 20s <ref name="pmid17573884">{{cite journal| author=Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G | display-authors=etal| title=Fabry disease and the skin: data from FOS, the Fabry outcome survey. | journal=Br J Dermatol | year= 2007 | volume= 157 | issue= 2 | pages= 331-7 | pmid=17573884 | doi=10.1111/j.1365-2133.2007.08002.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17573884  }}</ref>
|[[Horner's syndrome|Horner syndrome]]
|
|
* Classic signs: Ptosis, Miosis, Anhidrosis
|
|
* In children and infants [[Harlequin sign]] is more apparent than anhidrosis
|-
|[[Topiramate]] usage
|
|
* History taking
|
|
|-
|[[Acetylcholine]] intoxication
|
|
* History taking
|
|
|-
|-
|[[Ectodermal dysplasia]]
|
|
|
* Accompanying with hair and teeth problems<ref name="pmid34989033">{{cite journal| author=Kohn LL, Braun M, Cordoro KM, McCalmont TH, Shah SD, Frieden IJ | display-authors=etal| title=Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review. | journal=Pediatr Dermatol | year= 2022 | volume= 39 | issue= 1 | pages= 84-90 | pmid=34989033 | doi=10.1111/pde.14905 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=34989033  }}</ref>
|
|
|
|
|
|}
|}

Revision as of 20:54, 13 March 2022

Fabry's disease Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fabry's disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Fabry's disease differential diagnosis On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Fabry's disease differential diagnosis

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Fabry's disease differential diagnosis

CDC on Fabry's disease differential diagnosis

Fabry's disease differential diagnosis in the news

Blogs on Fabry's disease differential diagnosis

Directions to Hospitals Treating Fabry's disease

Risk calculators and risk factors for Fabry's disease differential diagnosis

Differentiating Fabry's disease from other disease

Organ Sing/Symptom Fabry's disease Possible differential diagnosis DDx Clues Further inf
Skin Angiokeratoma
 Fucosidosis[1]
  • Mean age: 2 years, the older patients more likely to have in examination
  • Location: Varies involve Hips, Groin, Abdomen, external genitalia
  • The clinical appearance of the lesions may be indistinguishable.
  • The light microscopic findings are indistinguishable.
  • Should Investigate accompanying symptoms
Sialidosis (Juvenile foem)[2]
  • Mean age : 2 years
  • Location: Diffuse
  • The clinical appearance of the lesions may be indistinguishable.
  • Should Investigate accompanying symptoms
Acral pseudolymphomatous angiokeratoma of childhood[3]
  • Mainly children
  • Location: Trunk and exterimities
  • Should Investigate accompanying symptoms
Hypohidrosis/Anhidrosis
  • Mean age: Mostly in the 20s [4]
 Horner syndrome
  • Classic signs: Ptosis, Miosis, Anhidrosis
  • In children and infants Harlequin sign is more apparent than anhidrosis
Topiramate usage
  • History taking
Acetylcholine intoxication
  • History taking
Ectodermal dysplasia
  • Accompanying with hair and teeth problems[5]


References

  1. ↑ Stepien KM, Ciara E, Jezela-Stanek A (2020). "Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series". Genes (Basel). 11 (11). doi:10.3390/genes11111383. PMC 7700486 Check |pmc= value (help). PMID 33266441 Check |pmid= value (help).
  2. ↑ Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR, Manco S, Gnarra M; et al. (2012). "Angiokeratoma: decision-making aid for the diagnosis of Fabry disease". Br J Dermatol. 166 (4): 712–20. doi:10.1111/j.1365-2133.2012.10742.x. PMID 22452439.
  3. ↑ Chedraoui A, Malek J, Tamraz H, Zaynoun S, Kibbi AG, Ghosn S (2010). "Acral pseudolymphomatous angiokeratoma of children in an elderly man: report of a case and review of the literature". Int J Dermatol. 49 (2): 184–8. doi:10.1111/j.1365-4632.2009.04203.x. PMID 20465644.
  4. ↑ Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G; et al. (2007). "Fabry disease and the skin: data from FOS, the Fabry outcome survey". Br J Dermatol. 157 (2): 331–7. doi:10.1111/j.1365-2133.2007.08002.x. PMID 17573884.
  5. ↑ Kohn LL, Braun M, Cordoro KM, McCalmont TH, Shah SD, Frieden IJ; et al. (2022). "Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review". Pediatr Dermatol. 39 (1): 84–90. doi:10.1111/pde.14905. PMID 34989033 Check |pmid= value (help).
Retrieved from "https://www.wikidoc.org/index.php?title=Fabry%27s_disease_differential_diagnosis&oldid=1720949"