Introduction. Variegate Porphyria (VP) is a rare autosomal dominant disorder characterized by mutations in the protoporphyrinogen oxidase (PPOX) gene, leading to diminished enzymatic activity, critical for heme biosynthesis. The clinical manifestations of VP are highly variable, with some patients exhibiting significant neurovisceral symptoms and others presenting with cutaneous photosensitivity, many with a combination of both. This variability reflects the disease's ability to often go undiagnosed, especially in pediatric populations, where the disease is not frequently seen in clinical practice.

Methods. This case study focuses on a 12-year-old male who presented with persistent photosensitivity, painful blistering, severe abdominal pain, and dark-colored urine. Despite normal renal and liver serology testing, elevated porphyrin levels in both urine and stool samples supported the presumptive diagnosis of VP, though the diagnosis was significantly delayed resulting in multiple unnecessary hospitalizations secondary to recurrent acute attacks.

Discussion. The complexity of VP, particularly in pediatric patients, often results in diagnostic delays due to the vague symptoms that oftentimes represent other medical conditions. Our case emphasizes the importance of a thorough clinical evaluation, family history, and awareness of this rare disorder. Management strategies, including sun protection and beta-carotene supplementation, were implemented to mitigate the risk of acute attacks.

Conclusion. This study emphasizes the need for increased awareness and understanding of VP, aiming to promote earlier diagnoses and improve patient outcomes through timely and appropriate interventions.