A 50 yo male patient came in with skin features as shown. He | Figure 1

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A 50 yo male patient came in with skin features as shown. He stated that the hyperpigmentation and hardening of the skin appears in the summer and disappears in the winter. It’s been an ongoing process for more than 3 years. What would be the next step in the diagnosis, management and treatment of this patient?

Case Study: Porphyria Cutanea Tarda in a 70-Year-Old Asian Patient with Hepatitis C History

Introduction:

This case study presents a 70-year-old Asian patient with a history of treated Hepatitis C who exhibited itching, fragile skin, rashes, skin pigmentation changes, and unresolved sunburns. Laboratory tests confirmed Porphyria cutanea tarda (PCT), a rare disorder caused by impaired heme synthesis leading to porphyrin accumulation in the skin. Due to cost constraints, the patient underwent 24-hour urine tests for porphobilinogen and delta-aminolevulinic acid (ALA) only.

Case Presentation:

The patient, a 70-year-old Asian male, presented with pruritus, skin fragility, rashes, and cutaneous pigmentation changes, primarily in sun-exposed areas. Denying any skin-related issues, the patient had a past history of successfully treated Hepatitis C.

Diagnostic Assessment:

Limited laboratory tests were conducted due to financial constraints. The 24-hour urine porphobilinogen level measured 10.6, indicating impaired heme synthesis, while urine ALA level showed ALA/24 h at 17.8, confirming the diagnosis of Porphyria cutanea tarda.

Treatment and Outcome:

With a confirmed diagnosis, the patient received a prescription for hydroxychloroquine 125mg P.O. twice a week. The treatment was beneficial, with the patient experiencing reduced pruritus, improved skin fragility, and a positive response in terms of skin pigmentation changes and sunburn resolution.

Discussion:

Porphyria cutanea tarda often accompanies hepatic diseases, as demonstrated by the patient's history of treated Hepatitis C. The case highlights the importance of considering porphyria as a differential diagnosis in patients with relevant medical histories and skin manifestations. Hydroxychloroquine has shown efficacy in managing PCT symptoms by reducing porphyrin accumulation in the skin. Further monitoring and follow-up are required to assess long-term treatment efficacy and safety.

Conclusion:

This case study emphasizes the successful diagnosis and management of Porphyria cutanea tarda in a 70-year-old Asian patient with a history of treated Hepatitis C. Early recognition and hydroxychloroquine therapy led to significant symptom improvement. Regular follow-up is essential to evaluate treatment effectiveness and safety.