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It Looks Familial: Hereditary Hemorrhagic Telangiectasia

Published:January 31, 2017DOI:https://doi.org/10.1016/j.amjmed.2017.01.008
      A young patient assumed his lesions were mainly an unsightly nuisance, but they also served as an important warning. The 22-year-old man presented with multiple bright red punctate macules and papules on his lips and tongue. He first noticed them 5 years earlier, and when they did not improve after consultation with a general practitioner, he remained concerned about his appearance. Similar punctate lesions, as well as linear, arciform, and corkscrew-shaped erythematous marks, gradually developed over the buccal mucosae, hard palate, fingertips and nail folds, and sides of the neck. Erythematous linear streaks also were present on the nailbeds of many fingers (Figure).
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      FigurePatients with hereditary hemorrhagic telangiectasia develop lesions in characteristic locations. A, Lips. B, Neck. C, Tongue. D, Hard palate. E, Finger tips. F, Nail folds and nail beds.
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