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An 18-year-old man comes to the office due to abnormal skin pi | USMLE Biochemistry Videos & Books

An 18-year-old man comes to the office due to abnormal skin pigmentation and premature hair graying. His nails are also thin and break easily, and he has white patches on his tongue. The patient's father had similar features at a young age and died of progressive pulmonary fibrosis. Physical examination shows diffuse gray hair, areas of reticular hyperpigmentation on the torso, dystrophic nails, and oral leukoplakia. Genetic testing reveals a loss-of-function mutation affecting the telomerase reverse transcriptase gene.