Fabry's disease differential diagnosis: Difference between revisions
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| rowspan="10" |Skin | | rowspan="10" |Skin | ||
| rowspan="3" |Angiokeratoma<br /> | | rowspan="3" |[[Angiokeratoma]]<br /> | ||
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*Mean age: 17 years old | *Mean age: 17 years old | ||
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| rowspan="2" |[[Lymphedema]] | | rowspan="2" |[[Lymphedema]] | ||
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* Mostly Lower limbs<ref name="pmid7707696">{{cite journal| author=Chabás A, Coll MJ, Aparicio M, Rodriguez Diaz E| title=Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings. | journal=J Inherit Metab Dis | year= 1994 | volume= 17 | issue= 6 | pages= 724-31 | pmid=7707696 | doi=10.1007/BF00712015 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7707696 }}</ref> | *Mostly Lower limbs<ref name="pmid7707696">{{cite journal| author=Chabás A, Coll MJ, Aparicio M, Rodriguez Diaz E| title=Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings. | journal=J Inherit Metab Dis | year= 1994 | volume= 17 | issue= 6 | pages= 724-31 | pmid=7707696 | doi=10.1007/BF00712015 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7707696 }}</ref> | ||
* Mean age: 37 in males, 47 in females <ref name="pmid175738842">{{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> | *Mean age: 37 in males, 47 in females <ref name="pmid175738842">{{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> | ||
|[[Chronic Venus insufficiency]] | |[[Chronic Venus insufficiency]] | ||
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Revision as of 21:31, 13 March 2022
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Fabry's disease differential diagnosis On the Web |
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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 info |
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| Skin | Angiokeratoma |
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Fucosidosis[1] |
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| Sialidosis (Juvenile foem)[2] |
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| Acral pseudolymphomatous angiokeratoma of childhood[3] |
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| Hypohidrosis/Anhidrosis |
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Horner syndrome |
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| Topiramate usage |
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| Acetylcholine intoxication |
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| Ectodermal dysplasia |
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| Hyperhidrosis |
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Primary hyperhidrosis[6] |
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| Lymphedema | Chronic Venus insufficiency | ||||
| Rheumatic disorders |
References
- ↑ 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). - ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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). - ↑ Gorelick J, Friedman A (2020). "Diagnosis and Management of Primary Hyperhidrosis: Practical Guidance and Current Therapy Update". J Drugs Dermatol. 19 (7): 704–710. doi:10.36849/JDD.2020.5162. PMID 32726555 Check
|pmid=value (help). - ↑ Chabás A, Coll MJ, Aparicio M, Rodriguez Diaz E (1994). "Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings". J Inherit Metab Dis. 17 (6): 724–31. doi:10.1007/BF00712015. PMID 7707696.
- ↑ 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.