Inheritance: autosomal recessive (affected patients are homozygous or complex heterozygous)
Clinical findings
(1) onset during infancy or early childhood of a skin disorder with severe photosensitivity, skin fragility, subepidermal bullae and scarring. A few patients may first present in early adulthood with skin fragility and/or annular plaques in sun-exposed skin.
(2) presence of excess facial hair
(3) erythrodontia
(4) hepatosplenomegaly
(5) hepatic dysfunction later in life
(6) sclerodermoid skin changes may appear over time
Laboratory findings:
(1) elevated uroporphyrins and hepatodecarboxylporphyrins in the urine
(2) elevated zinc protoporphyrin in erythrocytes (not seen in PCT)
(3) presence of isocoproporphyrins and coproporphyrins in the feces
(4) elevated uroporphyrins in the plasma
(5) fluorescence of erythroid precursors in the bone marrow
Some patients may present with pink or red urine.
