Nelson Textbook of Pediatrics 22nd Ed — Chapter 112. EPP: FECH deficiency, autosomal recessive with IVS3-48T>C variant. XLP: ALAS2 gain-of-function, X-linked. Acute painful photosensitivity (burning, stinging), elevated metal-free protoporphyrin. Treatment: afamelanotide (Scenesse), sun protection. Risk of liver failure.
🌐 paeds.online — Pakistan's Pediatric Platform