Fabry's disease differential diagnosis: Difference between revisions

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Revision as of 09:38, 14 March 2022

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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
 Fucosidosis[1]
  • Mean age: 2 years old, 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 old
  • 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
Lymphedema
  • Mostly Lower limbs[7]
  • Mean age: 37 in males, 47 in females [8]
 Chronic Venus insufficiency
  • Should Investigate accompanying symptoms
Rheumatic disorders
  • Should Investigate accompanying symptoms
Peripheral nervous system Pain (Neuropathic)
  • Severe neuropathic pain

Limb pain ( Acroparesthesia)

Burning palms and soles

  • Mean age: 10 years old
 Rheumatic disorders
Fibromyalgia
Headache (Cluster)
Migraine
Diabetic neuropathy
Recurrent fever syndromes
Porphyria
Uremic neuropathy
Guillain-Barre' syndrome
Hereditary neuropathy

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).
  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).
  7. ↑ 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.
  8. ↑ 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.
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