Congenital erythropoietic porphyria. An autopsy report

Congenital Erythropoietic Porphyria: Prenatal Diagnosis and Autopsy Findings in Two Sibling Fetuses

“…This pigmentation resulted from early deposition of overproduced type I isomers of uroporphyrinogen and coproporphyrinogen. Bhutani et al [19] reported the same histologic abnormalities in an adult autopsy. In addition, they observed epithelioid granulomas in the liver.…”

“…Despite the brown coloration of the bones at autopsy, the diagnosis of CEP was not made because of the presence of tissue maceration and the rarity of this poorly known disease. To our knowledge, there is no report of postmortem findings in fetuses, and only two adult autopsies have been detailed [18,19].…”

Uroporphyrinogen III Synthase Knock-In Mice Have the Human Congenital Erythropoietic Porphyria Phenotype, Including the Characteristic Light-Induced Cutaneous Lesions

“…Notably, histologic evaluation of the cutaneous lesions in murine CEP showed that they closely mimicked those in human CEP (Kaufman et al 1967;Bhutani et al 1974;Horiguchi et al 1989), including the characteristic (1) subepidermal bullae; (2) reduplication of the basement membrane around dermal capillaries, as demonstrated by PAS-positive staining; and (3) variable dermal sclerosis. The subepidermal bullae of C73R/V99A T mice were composed of the characteristic full-thickness epidermis, with dermal papillae forming the floor of the blister.…”

Ocular Complications in 2 Cases With Porphyria

“…Painless, noninflammatory scleral lesions at the interpalpebral areas comprise the most common ocular involvement. 1,8,9 In an earlier study, Kurihara et al showed the presence of porphyrins in the teardrop. 6 Commonly, the damage is present in sun-exposed areas and at the eye stem due to deposited porphyrins, oxygen-derived free radicals, and porphyrin precursors.…”