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 […]
