Congenital erythropoietic porphyria is a rare autosomal recessive disorder of heme synthesis resulting from deficiency of uroporphyrinogen III synthase (UROIIIS). It is the most severe porphyria. The clinical manifestations are markedly variable due to the different mutation in the UROIIIS gene. We recently diagnosed a case of congenital erythropoietic porphyria. A 9-year-old boy presented with recurrent ulcers on the skin especially dorsum of the hands and feet since aged 3. The physical examination revealed ulcers on the dorsum of the feet, mutilation of the fingers, fluorescent erythrodontia, and darkening and hypertrichosis of the sun exposed area. Laboratory findings showed mild hemolysis, red urine, increased serum alkaline phosphatase level, and fluorescence of the red blood cell and urine. The histopathology was consistent with porphyria. The urine and plasma porphyrin levels confirmed the diagnosis of congenital erythropoietic porphyria. The administration of oral ultracarbon and topical zinc oxide has been tried.
Pandey M, Mukherjee SB, Patra B, Kapoor S, Ged C, Aneja S, Seth A. Pandey M, et al. J Pediatr Hematol Oncol. 2013 May;35(4):e167-70. doi: 10.1097/MPH.0b013e3182707218. J Pediatr Hematol Oncol. 2013. PMID: 23612387
Al-Harazi AA, Al-Eryani BM, Al-Sharafi BA. Al-Harazi AA, et al. BMC Res Notes. 2017 Sep 12;10(1):476. doi: 10.1186/s13104-017-2803-6. BMC Res Notes. 2017. PMID: 28899405 Free PMC article.
Berry AA, Desnick RJ, Astrin KH, Shabbeer J, Lucky AW, Lim HW. Berry AA, et al. Arch Dermatol. 2005 Dec;141(12):1575-9. doi: 10.1001/archderm.141.12.1575. Arch Dermatol. 2005. PMID: 16365260
Shaw PH, Mancini AJ, McConnell JP, Brown D, Kletzel M. Shaw PH, et al. Bone Marrow Transplant. 2001 Jan;27(1):101-5. doi: 10.1038/sj.bmt.1702738. Bone Marrow Transplant. 2001. PMID: 11244446 Review.
Tanigawa K, Takamura N, Yamashita S. Tanigawa K, et al. Nihon Rinsho. 1995 Jun;53(6):1422-6. Nihon Rinsho. 1995. PMID: 7616657 Review. Japanese.
Agarwal S, Majumder PD, Srinivasan B, Iyer G. Agarwal S, et al. Oman J Ophthalmol. 2015 Sep-Dec;8(3):200-4. doi: 10.4103/0974-620X.169904. Oman J Ophthalmol. 2015. PMID: 26903733 Free PMC article.