Hereditary Hemorrhagic Telangiectasia: Dermatological Features

Abstract

Clinical signs and features include:

Also known as Osler-Weber-Rendu disease

Eighty percent present as spontaneous epistaxis

Arteriovenous malformations (AVMs) occur throughout the body including the gastrointestinal (GI) tract, lungs, liver, brain/spinal cord

Cutaneous lesions start to appear in adulthood and increase with age

Lesions appear as small macular telangiectasia that are 1–2 mm in diameter and blanch

Telangiectasia commonly occur on lips, tongue, palate, face (sun-exposed areas), nares, ears, conjunctiva, chest, hands, and feet

Fingertips can develop painful ulcers from the telangiectasia

Pathogenesis of this disease involves:

Autosomal dominant mutations: hereditary hemorrhagic telangiectasia (HHT)1, mutation in ENG on chromosome 9; HHT2, mutation in ACRVL1/ALK1 on chromosome 12; HHT3, mutation on chromosome 5q; HHT4, mutation on chromosome 7p; HHT with juvenile polyposis, mutation of SMAD4; HHT2 with primary pulmonary hypertension, mutation of BMPRII on chromosome 2