Congenital Erythropoietic Porphyria Clinical Presentation
- Author: Jeanette L Hebel, MD; Chief Editor: Dirk M Elston, MD more...
The typical complaint is blistering and fragility of light-exposed skin in an individual with discolored urine. The presentation of erythropoietic porphyria at birth in a patient with a history of a difficult perinatal course and concomitant jaundice usually indicates severe disease. Patients may have a history of hemolytic anemia before the complete diagnosis was recognized. Very early prenatal expression with nonimmune hydrops fetalis has been reported.
Photosensitivity, with formation of vesicles and bullae, occurs early in the course of the disease. Increased fragility and erosions can contribute to mutilation, especially on the face (eg, nose, mouth, ears) and hands.
Hypertrichosis of the face and extremities is common.
A newly described clinical feature is multiple pink, soft papules of the nasolabial and perioral region that are asymptomatic and have the histology of a hamartoma.
The teeth have a reddish color. The teeth fluoresce under a Wood light due to porphyrin deposition in dentine and enamel.
Pink staining of the diapers in the neonatal period is common. This staining is due to the porphyrin pigment in the urine.
Ocular manifestations of erythropoietic porphyria include blepharitis, cicatricial ectropion, and conjunctivitis. Lagophthalmos is a major cause of light-induced ocular surface aggravation. Scleral findings include interpalpebral fissures and pink fluorescence of the perilimbal sclera under a Wood light. Subsequent bilateral corneal scarring may occur, with eventual blindness. The risk for malignant conjunctival degeneration is low.
Porphyrins are also deposited in the bone, where they cause an orange-red fluorescence. The severe loss of bone with subsequent contractures and deformities occurs in most adults with erythropoietic porphyria. Radiographic studies show osteopenia and acro-osteolysis.
Erythropoietic porphyria is caused by autosomal recessive inheritance of genes that encode abnormal uroporphyrinogen III synthase enzyme protein. The resultant deficient activity of this enzyme leads to hemolytic anemia, cutaneous photosensitivity, and their complications. The mutation that causes the most severe deficiency of the enzyme uroporphyrinogen III synthase is C73R.
The GATA gene family, a group of transcription factors, has a crucial role in normal human hematopoiesis. A mutation in GATA1, an X-linked transcription factor, has been reported in association with erythropoietic porphyria.
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