A 63-year-old heterosexual male was admitted in November 2013 for progressive dyspnoea of one month's duration, which on arrival at the emergency department was minimal effort. He was a smoker, cumulative rate of 80 packs/year, drinker of about 80 grams of alcohol per day, and had unprotected sex with different partners. He reported no previous liver disease, nor was he aware of any family member having been diagnosed with porphyria. She was not taking medication on a regular basis.
A few months earlier, she had consulted a dermatologist for erythema and facial desquamation, which was related to excessive photosensitivity, and was treated with sun protection creams.
In addition to the respiratory difficulty, he had a non-productive cough, no fever, but on admission his temperature was 38.5oC, and he estimated that he had lost about 20 kg of weight in the last 4 months. The patient appeared to be malnourished, was eupnoeic with supplemental oxygen, bladder murmur was preserved and there were no signs of heart failure. There was a striking hyperpigmentation on the forehead, malar regions and nose with some small erosion and hypertrichosis, he had no other skin lesions. Chest X-ray showed a bilateral interstitial pattern. Anti-HIV antibodies were positive, the viral load was 257,580 copies/ml, CD4 28 cells/µL and CD8 262 cells/µL with a CD4/CD8 ratio of 0.11. Ziehl Neelsen staining of sputum was negative. An adequate sample for direct sputum immunofluorescence against pneumocystis jiroveci (PNJ) could not be obtained, however empirical treatment against this fungus was started with a presumptive diagnosis of interstitial pneumonia due to PNJ. The dyspnoea and the radiological semiology described improved. A urine fractionated porphyrin assay was performed to clarify the facial erythroderma. An elevated 24-hour urine porphyrin excretion was detected, with an excretion pattern compatible with the diagnosis of PCT2.

Hepatitis B and C virus serologies were negative. The iron metabolism study showed normal transferrin values and slightly elevated transferrin saturation index and serum iron, serum ferritin quantification was very high (1,928 ng/ml). The C282Y and H63D mutations of the haemochromatosis gene were negative. He was discharged with the diagnoses of HIV infection C3 (NPC interstitial pneumonia) and PCT. Treatment with Tenofovir, Emtricitabine and Darunavir was started and sun protection and abstinence from alcohol were recommended.