Hereditary haemorrhagic telangiectasia, also known as Rendu-Osler-Weber disease, is an autosomal dominant disorder of the fibrovascular tissue common in Western countries. It is characterized by the classical triad of mucocutaneous telangiectasia, arteriovenous malformations with recurrent epistaxis. Here we report a rare case of Hereditary haemorrhagic telangiectasia in a 66-year-old Indian male who presented with a history of recurrent epistaxis of forty years duration. The nasal telangiectasias were ablated under narrow band imaging guidance. The rarity of diagnosis was aided by clinical exome sequencing to confirm the disease.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10188781 | PMC |
http://dx.doi.org/10.1007/s12070-022-03407-4 | DOI Listing |
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