title: Late onset erythropoietic porphyria (Gunther's disease).
abstract: Congenital erythropoietic porphyria (CEP) or Gunther's disease is inherited disorder of porphyrin heme synthetic pathway that usually presents early in life. A very rare form of this disease has its onset in later years of life, called late onset erythropoietic porphyria (late onset EP). Fourteen cases of late onset EP have been reported to-date. We report another case of this rare entity in a 40 years old male with associated findings of haemolysis and thrombocytopenia.
authors.affiliation: Department of Dermatology, Combined Military Hospital, Lahore Cantt.
authors.forename: Sibghat Ullah
authors.initials: SU
authors.lastname: Rao
authors.forename: Nasser Rashid
authors.initials: NR
authors.lastname: Dar
authors.forename: Muhammad
authors.initials: M
authors.lastname: Abbas
authors.forename: Jauhar
authors.initials: J
authors.lastname: Mumtaz
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D006461:Hemolysis; D006801:Humans; D008297:Male; D017092:Porphyria, Erythropoietic / Q000175:diagnosis* / Q000201:enzymology; D013921:Thrombocytopenia; D013997:Time Factors; D014576:Uroporphyrinogen III Synthetase / Q000378:metabolism
chemical_list: D014576:Uroporphyrinogen III Synthetase