1. 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:
Hereditary coproporphyria (HC)
Variegate porphyria (VP)
III. Acute attacks only:
Acute intermittent porphyria (AIP)

4. The top 2O diseases related to porphyria

5. Porphyria cutanea tarda

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

7. 2O% of patients with porphyria cutanea tarda are inherited in an autosomal dominant pattern

8. Porphyria cutanea tarda: body regions

9. Porphyria cutanea tarda B: 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

10. Porphyria cutanea tarda

11. Porphyria cutanea tarda
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.

12. Porphyria cutanea tarda

13. Porphyria cutanea tarda

14. Porphyria cutanea tarda systemic lupus erythematosus Fritsol, S. et al
Porphyria cutanea tarda systemic lupus erythematosus Fritsol, S. et al. Rev. Bras. Remm. 52, no. 6, 2O123

15. Porphyria cutanea tarda & systemic lupus erythemastosus The use of chloroquine for treatment of SLE,may cause hepatotoxicity leading to PCT Haendcchan,L. et al.An. Bras. Dermat.86: nO.1, 2O11

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

23. Congenital erythropoietic porphyria

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

25. Erythropoietic protoporphyria

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

27. Erythropoietic protoporphyria

28. Erythropoietic protoporphyria Orphanet J. Rare Disease 4 : 19, 2OO9

29. Erythropoietic protoporphyria

31. Heredditary coproporphyria

32. Hereditary coproporphyria

33. Hereditary coproporphyria It is due to mutation CPOX gene (coproporphyrinogen oxidase enzyme ) which is located on the long arm of chromosome 3 at position 12

34. Variegate porphyria

35. Porphyria variegata

36. Porphyria variegata

37. Fluorescence of urine in a patient with porphyria variegata

38. Porphyria variegata Whatley,S. D. al
Porphyria variegata Whatley,S.D. al. AJHD 65:984, 1999 Mutation 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

39. ACUTE INTERMITTENT PORPHYRIA

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

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

42. Watson-Schwartz reaction Screening test for acute intermittant porphyria
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.

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

44. 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)