Cureus 2015 Jun 16

Hereditary Hemorrhagic Telangiectasia with Unusual Associations.

Abstract

We describe a report of an elderly lady who was hospitalized with progressive worsening of breathlessness and fatigue of one month's duration. Clinical evaluation of the patient revealed hereditary hemorrhagic telangiectasia, interstitial lung disease, pulmonary hypertension without left heart failure, and bilateral gluteal calcinosis cutis. Initially, CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome was considered in view of the telangiectasia and calcinosis cutis, but a strong autosomal inheritance pattern and endoscopies (nasal and upper gastrointestinal) favored a diagnosis of hereditary hemorrhagic telangiectasia with rare associations.

Related Questions

How common are nasal telangiectasia in patients with systemic sclerosis?

1 Answers

Mednet Member

Rheumatology · Mayo Clinic

Telangiectasias, particularly “matted’’ ones are often seen in patients with Systemic sclerosis (SSc), both limited and diffuse cutaneous. They can also be seen in patients with MCTD, UCTD with SSc features, Lupus or Dermatomyositis (often periungual). In SSc, they are most commonly on the face and ...