ABSTRACT A
male infant presented with progressive
jaundice immediately after
birth. Fecal acholia and choluria associated with extensive bullous
skin lesions in his trunk,
abdomen, and upper and
lower limbs developed during
phototherapy. Several diagnostic hypotheses were presented, including neonatal
porphyria,
hemochromatosis,
Alagille syndrome, and neonatal lupus. A 24-hour
urine sample for the
dosage of urinary
porphyrins was collected, showing high results (1823.6µg in 100mL). At 50 days of
life,
fluorescence spectroscopy using a
Wood's lamp revealed simultaneous bright red
fluorescence of
urine-stained diapers and sample
blood. A definitive
diagnosis of
congenital erythropoietic porphyria was made following identification of a
mutation of the uroporphyrinogen
synthetases III
gene on
genetic testing. The
patient was subsequently maintained in a low
light environment since then, resulting in improvement of the lesions.
Congenital erythropoietic porphyria is a
disease of the group of
porphyrias that presents shortly after
birth with blistering occurring in regions exposed to the
sun or other
ultraviolet light. Atrophic
scars, mutilated
fingers, and bright red
fluorescence of the
urine and
teeth may also be observed. There is no specific
treatment, and prophylaxis comprising a total avoidance of
sunlight is generally recommended. A high degree of suspicion is required for
diagnosis. An
early diagnosis can
lead to less damage. Here, we present the case of a
newborn with
congenital erythropoietic porphyria diagnosed after presenting with
bullous lesions secondary to
phototherapy.