Hermansky-Pudlak syndrome (HPS) is a rare multisystem disorder inherited in an autosomal recessive manner. Its prevalence is 1 in 500 000 to 1 000 000 people worldwide. The cause of this disorder is genetic mutations that lead to defective organelles of lysosomes. In this report, a 49-year-old man is introduced who was referred to the medical center with ocular albinism and recently exacerbated shortness of breath. Imaging showed peripheral reticular opacities, ground-glass opacities of the lungs with subpleural sparing in some regions, and thickening of bronchovascular bundles, which were all in favor of non-specific interstitial pneumonia. This imaging pattern is an unusual finding in a patient with HPS.
Background Amiodarone is one of the most commonly used and effective antiarrhythmic drugs to treat ventricular and supraventricular arrhythmias. Besides its advantages, this drug has side effects like liver, digestive, pulmonary, thyroid, neural, skin, optical, hematologic, psychiatric, and cardiac complications. Blue-gray cutaneous discoloration, also known as blue man syndrome, is an undesirable and unusual side-effect of chronic amiodarone therapy in less than 3% of patients. Case presentation This report presents a 51-year-old Caucasian man treated for the past 3 years with amiodarone and implantable cardioverter defibrillators due to his ventricular arrhythmia and cardiomyopathy, without any follow-up visit to his doctor. He was referred to the medical center for blue-gray discoloration on his nose and cheeks, which had started to appear in the last 3 weeks. Conclusion Considering the findings obtained in this report and the numerous side effects of amiodarone, the blue-man syndrome is a rare yet important finding of this drug which may influence the patient’s daily life. It is recommended that all patients under treatment with this drug be notified about its side effects and visit their doctors regularly. Regarding the high therapeutic value of this drug, the lack of any association between blue man syndrome and other complications, and the related aesthetic problems, the role of the caregiver becomes much more critical in the prescription of amiodarone.
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