Photosensitive dermatitis...

A 15-year-old boy presented with photosensitive dermatitis, jaundice, abdominal pain. The patient initially experienced stinging, itching, and burning of the skin in exposed places after about 10 minutes of sun exposure about a month ago. Then, a blister appeared on the back of his hands and grew larger (Fig. 1). In addition to having severe abdominal pain, the patient also had a lingering fever, a cough, jaundice, and dark yellow urine. After a thorough evaluation, the levels of serum bilirubin and liver enzymes were found to be elevated. Even though the white blood cell counts were slightly above average (Table 1, Phase I). A CT scan revealed dilation of intrahepatic bile duct, the hilar lymph nodes, and slightly enlarged liver and spleen. In conclusion, genetic testing identified two mutation sites in the FECH gene (Exon8 c.892C > T (p.R298X), heterozygous; Exon4 c.315-48T > C (splicing), homozygous), which confirmed the diagnosis of Erythropoietic protoporphyria(EPP).