CHILDREN with erythropoietic protoporphyria (EPP) frequently endure severe, unexplained pain triggered by sunlight or artificial light exposure, yet diagnosis is often delayed despite distinctive clinical features. A new review highlights the need for earlier recognition of this rare childhood photodermatosis and underscores promising advances in therapy.
EPP typically emerges in early childhood with episodes of intense burning pain following exposure to visible light, often without initial skin changes. This absence of obvious dermatologic signs can lead to misdiagnoses or lengthy delays in referral. When prolonged exposure occurs, however, secondary symptoms such as erythema, edema, or crusting may develop. The authors emphasize that heightened awareness of these patterns could allow general pediatricians and primary care physicians to identify affected children sooner.
The review proposes a practical diagnostic algorithm to guide frontline clinicians, illustrated through a representative pediatric case. By applying this structured approach, clinicians may be better able to differentiate EPP from more common skin or pain conditions that might otherwise mask its presentation. Early recognition is essential to improve outcomes and reduce the psychosocial toll associated with recurrent pain and activity limitations in children.
In addition to diagnostic strategies, the authors discuss emerging therapeutic options. Afamelanotide, a melanocortin analog already approved for adults with EPP, shows encouraging results in adolescent populations and may help expand treatment access for younger patients. Experimental methods of visible light protection are also under investigation, suggesting further potential to mitigate symptoms and enhance quality of life.
The review also addresses systemic barriers to care, highlighting that equitable access remains a challenge across European care structures. By raising awareness among pediatric and primary care physicians, the authors aim to reduce missed diagnoses, improve patient support, and ensure timely referral for specialist management.
Reference:
Toenne M et al. Erythropoietic protoporphyria in childhood: clinical clues, missed diagnoses and emerging therapy. Eur J Pediatr. 2025;184:580.
