A 63-year-old heterosexual male was admitted in November 2013 due to progressive dyspnea for one month that upon arrival at the emergency department with minimal effort.
He was a smoker, accumulated index of 80 packs/year, drinker of about 80 grams of alcohol a day, and had unprotected sex with different partners.
He did not report previous liver disease, nor knew that any member of his family had been diagnosed with porphyria.
She did not take medication regularly.
A few months before he had consulted a dermatologist for erythema and facial scaling, which was related to excessive photosensitivity, was treated with sunscreen creams.
Other data were added to respiratory distress: cough did not manifest fever, but at admission the temperature was 38.5oC and estimated that she had lost about 20 kg of weight in the last 4 months.
The patient appeared to be malnourished, was eupneic with supplementary oxygen supply, vesicular murmur was conserved and had no signs of heart failure.
There was a striking hyperpigmentation in the forehead, malar regions and nose with some small erosion and hypertrichosis, with no other skin lesions.
The 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 count of 0.
Ziehl Neelsen stain was negative.
An adequate sample for direct sputum immunofluorescence against pneumocystis jiroveci (PNJ) could not be obtained, however empirical treatment against this NPJ was initiated with interstitial pneumonia presumed diagnosis.
The radiological semiology was described.
Urine porphyrins were determined to clarify facial erythrodermia.
An increase in porphyrin excretion in 24-hour urine was detected, with an excretion pattern compatible with the diagnosis of PCT2.
1.
Hepatitis B and C serology was negative.
The study of iron metabolism showed normal transferrin values and slightly elevated saturation index and serum iron, the quantification of serum ferritin was very high (1,928 ng/ml).
C282Y and H63D mutations in the hemochromatosis gene were negative.
She was discharged with the diagnosis of HIV C3 infection (interstitial pneumonia by NJP) and PCT.
Treatment with Tenofovir, Emtricitabine and Darunavir was started and sun protection and alcohol withdrawal was recommended.
