Hereditary haemorrhagic telangiectasia in skin of colour: a dermoscopic, histopathological and radiological approach

Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare autosomal dominant disorder characterised by abnormal blood vessel formation, leading to recurrent epistaxis, mucocutaneous telangiectasias and arteriovenous malformations. The diagnosis is clinically based on the Curacao criteria with the triad of mucocutaneous and mucosal telangiectasia (often located on the lips), epistaxis and positive family history. In this case report, we present a woman in her early 50s with symptoms of frequent epistaxis, painful lesions on fingertips and subungual bleeding since childhood. An extensive workup was done, after which the diagnosis of HHT was established. The patient was treated with thalidomide in a dose of 100 mg two times per day, with a reported decrease in episodes of epistaxis and improved general health.