PMC3635963_01
Photograph of a patient with CEP. a Crusted erosions and hypertrichosis on the forehead. b Red-brown teeth with intense red fluorescence under WOOD's light detection.
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F1
Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a). Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b), suggested the diagnosis of CEP.
Nucleotide sequences of exon 2 of the UROS gene of the patient, her parents and a healthy control. Missense V3F mutation comprising a homozygous G-to-T transversion.
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F2
A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2).
Family pedigree of the CEP patient. The patient was homozygous for V3F. Her brother had died of a disease similar to that of the patient, and her parents were asymptomatic heterozygotes.
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F3
Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3).