NUMERO: #20240607

Título: A case of hereditary hemorrhagic telangiectasia with late diagnosis in a 41-year-old male

Nome do Apresentador: Eduarda Gomes CASIMIRO

Categoria do Trabalho: Painel de caso clínico (PCC)

Área Temática: Estomatologia

Resumo: Rendu-Osler-Weber syndrome, also known as hereditary haemorrhagic telangiectasia (HHT), is an autosomal dominant disorder affecting approximately 2 individuals per 100,000 inhabitants. The diagnosis of HHT is frequently delayed due to asymptomatic presentation and a lack of awareness among healthcare professionals. The case described herein involves a 41-year-old male patient who sought attention to elucidate multiple purple lesions on his oral cavity. Despite previous consultations with various healthcare providers, a definitive diagnosis remained elusive. The patient reported frequent nosebleeds, episodes of anemia, and symptoms of depression. Notably, his mother had succumbed to a vascular accident, exhibiting a similar oral clinical presentation. Upon clinical examination, multiple erythematous punctate macules were observed on the lips and tongue, which blanched under pressure. Similar lesions were also noted on the fingertips. The diagnosis was established based on clinical findings, and the patient was advised to seek ongoing medical care for appropriate follow-up and management.

Autor 1:  Eduarda Gomes CASIMIRO

E-mail 1:  [email protected]

Autor 2:   Mariana NANCI de Souza

E-mail 2:  [email protected]

Autor 3 :  Celso Augusto LEMOS Jr

E-mail 3:  [email protected]

Autor 4:  Norberto Nobuo SUGAYA

E-mail 4:  [email protected]