Fabry's disease differential diagnosis

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Differentiating Fabry's disease from other disease


Organ	Sing/Symptom	Fabry's disease	Possible differential diagnosis	DDx Clues	Further info
Skin	Angiokeratoma	Mean age: 17 years Locations: Mostly Hips, Groin, Periumbilical	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]
	Hyperhidrosis	More common in females Mean age: Mostly in the 30s	Primary hyperhidrosis^[6]	Mean age: before 25 Focal Family history of idiopathic hyperhidrosis

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).

[pmid33266441-1] 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).

[pmid22452439-2] 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.

[pmid20465644-3] 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.

[pmid17573884-4] 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.

[pmid34989033-5] 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).

[pmid32726555-6] 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).

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Fabry's disease differential diagnosis

Differentiating Fabry's disease from other disease

References

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