A 78-year-old caucasian male presented to the dermatology department with mucocutaneous telangiectasia in the perioral region, upper and lower lips, tongue and oral cavity (Fig.1). According to the patient, the lesions had developed during young adulthood, remaining stable since then. Anamnesis disclosed recurrent mild epistaxis, sporadic upper digestive hemorrhages and a history of chronic anemia. The patient had performed upper and video capsule endoscopies several years before, reporting multiple telangiectasia of the esophagus, gastric body and antrum and across the small bowel, particularly jejunum, some of which with stigmata of hemorrhage. A family history of similar mucocutaneous lesions and bleeding episodes was elicited, affecting his mother, 3 maternal aunts and his daughter. At this point, a diagnosis of Hereditary Hemorrhagic Telangiectasia (or Osler-Weber-Rendu syndrome) was made. The patient was referred for subsequent evaluation of visceral arteriovenous malformations.

Hereditary Hemorrhagic Telangiectasia, of autosomal dominant inheritance, is a rare systemic fibrovascular dysplasia.¹ Clinical diagnosis is based on the Curaçao Criteria: spontaneous and recurrent epistaxis, multiple mucocutaneous telangiectasia at characteristic sites (face, hands and oral cavity), visceral arteriovenous malformations and family history (a first degree relative with Hereditary Hemorrhagic Telangiectasia). A definite diagnosis is confirmed upon the presence of at least 3 of these manifestations.² Treatment is supportive with an individualized management, including the.screening for arteriovenous malformations.³

Figura I

Figure 1 - Mucocutaneous telangiectasia in the perioral region, upper and lower lips and tongue.

  BIBLIOGRAFIA  

1 Juares AJ, Dell´Aringa AR, Nardi JC, Kobari K, Gradim VL, Perches RM. Rendu-Osler-Weber Syndrome: case report and literature review. Braz J Otorhinolaryngol. 2008;74:452-7.

2 Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 2011; 48:73.

3 Narsinh KH, Ramaswamy R, Kinney TB. Management of Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia Patients. Semin Intervent Radiol. 2013;30:408-12.