Herbert Bonkovsky, MD

Missed clues, social isolation, and mildly elevated liver enzymes shape the workup of a teenager with confirmed classical EPP. The discussion balances biochemical testing, vitamin D repletion, and realistic photoprotection.

A 15-year-old with eight years of light-triggered pain and swelling had been treated for sunscreen allergy, eczema, and sunburn. The case shows how EPP presents and how it differs from other cutaneous porphyrias.

Strict photoprotection remains the foundation of EPP care, and only one therapy is approved worldwide. Earlier diagnosis and oral agents that lower protoporphyrin production emerge as the field's most pressing needs.

Years can pass between the first symptoms and a correct EPP diagnosis, and those years carry risk. The discussion links delayed recognition to protoporphyric hepatopathy, iron deficiency, and vitamin D deficiency.

EPP arises from reduced ferrochelatase activity and excess protoporphyrin made largely in the bone marrow. Accurate diagnosis depends on choosing the right specimen and the right laboratory, a step commercial assays often get wrong.