Cutaneous Manifestations of Variegate Porphyria in a Young Entertainer: Possible Occupational and Environmental Triggers

Background and Clinical Significance: Variegate porphyria (VP) is a rare hepatic porphyria caused by a partial deficiency in protoporphyrinogen oxidase (PPOX), the penultimate enzyme in the heme biosynthesis pathway. This enzymatic defect leads to the accumulation of porphyrins and their precursors, resulting in a broad spectrum of clinical manifestations. The disease may present with cutaneous symptoms, typically chronic skin blistering, and/or acute episodes characterized by severe neurovisceral symptoms. Case presentation: We present the case of 24-year-old woman with VP who began working as an entertainer at a tourist resort in Turkey. Her role involves intense, prolonged shifts, often with significant sun exposure and considerable physical and psychological stress. After several months of work, the patient developed severe hand lesions, significantly influencing both her job performance and daily life, leading to pain, discomfort, and general malaise. The village doctor prescribed a topical treatment with corticosteroids and antibiotics, without an improvement in dermatological lesions. Conclusions: The case presented has two important implications: (1) it is the first case of a subject affected by a rare disease such as VP exacerbated by occupational exposure and (2) it suggests that hemin, routinely used to treat acute attacks, may also have a therapeutic benefit for the cutaneous manifestations of VP.