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The classification of porphyria

Classification of porphyria from the clinical dermatologic point of view (Rook et al.): I. Cutaneous diseases only: Porphyria cutanea tarda (PCT) Congenital erythropoietic porphyria (CEP) (Gunther’s disease) Erythropoietic protoporphyria (EPP) II. Cutaneous diseases & acute attacks:

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The classification of porphyria

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  1. Classification of porphyria from the clinical dermatologic point of view (Rook et al.): I. Cutaneous diseases only: Porphyria cutanea tarda (PCT) Congenital erythropoietic porphyria (CEP) (Gunther’s disease) Erythropoietic protoporphyria (EPP) II. Cutaneous diseases & acute attacks: Hereditary coproporphyria (HC) Variegate porphyria (VP) III. Acute attacks only: Acute intermittent porphyria (AIP) The classification of porphyria

  2. The top 2O diseases related to porphyria

  3. Porphyria cutanea tarda

  4. The top 2O diseases related to porphyria cutanea tarda

  5. 2O% of patients with porphyria cutanea tarda are inherited in an autosomal dominant pattern

  6. Porphyria cutanea tarda: body regions

  7. Porphyria cutanea tardaB: urine of patient is pink under a Wood’s lamp C: Urine under ultraviolet A light. The diagnosis was confirmed by marked presence of uroporphyrinogen.Chan,C.C. & Lin,S. N. Eng. J. Med. 365:1128, 2O11

  8. Porphyria cutanea tarda

  9. A. Blister, milia & hyper pigmented scar B. Blister, erosion & superficial scar C. Hemorrhagic blister, crusting & superficial scar D, Erosion & sclerodermiform plaque on the neck of the patient. Porphyria cutanea tarda

  10. Porphyria cutanea tarda

  11. Porphyria cutanea tarda

  12. Porphyria cutanea tarda systemic lupus erythematosusFritsol, S. et al. Rev. Bras. Remm. 52, no. 6, 2O123

  13. Porphyria cutanea tarda & systemic lupus erythemastosusThe use of chloroquine for treatment of SLE,may cause hepatotoxicity leading to PCTHaendcchan,L. et al.An. Bras. Dermat.86: nO.1, 2O11

  14. Congenital erythropoietic porphyria

  15. Congenital erythropoietic porphyria

  16. Congenital erythropoietic porphyria

  17. Congenital erythropoietic porphyria

  18. Congenital erythropoietic porphyria

  19. Congenital erythropoietic porphyria

  20. Congenital erythropoietic porphyria

  21. Congenital erythropoietic porphyria

  22. Congenital erythropoietic porphyria (Gunther’s disease)It has an autosomal recessive pattern of inheritance

  23. Erythropoietic protoporphyria

  24. Erythropoietic protoporphyriaOrphanet J. Rare Disease 4 : 19, 2OO9

  25. Erythropoietic protoporphyria

  26. Erythropoietic protoporphyriaOrphanet J. Rare Disease 4 : 19, 2OO9

  27. Erythropoietic protoporphyria

  28. Heredditary coproporphyria

  29. Hereditary coproporphyria

  30. Hereditary coproporphyriaIt is due to mutation CPOX gene (coproporphyrinogen oxidase enzyme ) which is located on the long arm ofchromosome 3 at position 12

  31. Variegate porphyria

  32. Porphyria variegata

  33. Porphyria variegata

  34. Fluorescence of urine in a patient with porphyria variegata

  35. Porphyria variegataWhatley,S.D. al. AJHD 65:984, 1999Mutation in human PPOX gene: missense mutation ( .) are shown below the gene diagram, with chain termination& splice mutation (frameshift) (X), nonsense (open box) & splice defect (dark box) above it. Unshaded area of exons denote non coding regions

  36. ACUTE INTERMITTENT PORPHYRIA

  37. The top 2O diseases related to acute intermittent porphyria

  38. Acute intermittent porphyria“Port -wine reddish urine”

  39. Urine is placed in a test tube A Equal amount of Echrlich’s aldehyde reaction, red color means strongly positive reaction Chloroform is added to the tube, If red color remasin in the top, this means the presence of PBG (C) which suggest acute porphyria. If the color is confined to the lower layer, the urine contain urobilinogen & this is of no significance in terms of porphyria The reaction is negative in variegate porphyria, but if it is positive, this will confirm an acute attack. Watson-Schwartz reactionScreening test for acute intermittant porphyria

  40. AIP is caused by mutation in the HMBS gene located at 11q23.3 Acute intermittent porphyriaSequence chromatography of the PBGD (Porphobilinogen deaminase) gene demonstrate a short train of deletion( c 1OO8 – 1O19) in I-1, II-1& II-2J. of neurological science 26O: 231, 2OO7

  41. Garlic makes the case of acute intermittent porphyria worse because it contains chemicals that excerbate the disease .(Vampire myth which means that porphyria is vampire’s disease)

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