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<p>Erythropoietic protoporphyria (EPP) is a&#xa0;rare disorder of heme biosynthesis that typically presents in childhood and causes burning pain in skin areas exposed to sunlight, often without visible skin lesions. Because of the nonspecific symptoms and the low level of awareness among clinicians, the condition is frequently recognized only after years of symptoms and considerable suffering for affected children. This article aims to raise awareness of EPP as an important differential diagnosis of photosensitivity in childhood and to provide practical guidance for pediatricians. Based on current guidelines and registry data, it summarizes the pathophysiology, diagnostic work-up, therapeutic options and psychosocial aspects of EPP, illustrated by a&#xa0;typical case diagnosed in primary pediatric care. Burning pain shortly after sunlight exposure, usually without visible lesions in the early stages, is characteristic and often leads to substantial impairment in quality of life. A&#xa0;structured clinical history together with measurement of erythrocyte protoporphyrin enables an early and reliable diagnostic suspicion in general pediatric practice. Management subsequently focuses on light protection, vitamin&#xa0;D supplementation and psychosocial support. Afamelanotide is an established treatment option for adults but is not yet available for children.</p>

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Erythropoetische Protoporphyrie im Kindesalter – eine interdisziplinäre Übersicht für die Praxis

  • 期刊论文

  • 发表日期：

    2026年7月9日

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  • Moritz Toenne,
  • Tim Schaefer,
  • Karolin Schaefer

摘要

Erythropoietic protoporphyria (EPP) is a rare disorder of heme biosynthesis that typically presents in childhood and causes burning pain in skin areas exposed to sunlight, often without visible skin lesions. Because of the nonspecific symptoms and the low level of awareness among clinicians, the condition is frequently recognized only after years of symptoms and considerable suffering for affected children. This article aims to raise awareness of EPP as an important differential diagnosis of photosensitivity in childhood and to provide practical guidance for pediatricians. Based on current guidelines and registry data, it summarizes the pathophysiology, diagnostic work-up, therapeutic options and psychosocial aspects of EPP, illustrated by a typical case diagnosed in primary pediatric care. Burning pain shortly after sunlight exposure, usually without visible lesions in the early stages, is characteristic and often leads to substantial impairment in quality of life. A structured clinical history together with measurement of erythrocyte protoporphyrin enables an early and reliable diagnostic suspicion in general pediatric practice. Management subsequently focuses on light protection, vitamin D supplementation and psychosocial support. Afamelanotide is an established treatment option for adults but is not yet available for children.