Q1: What do the clinical photographs and radiograph show?

She presented a bilateral blepharoptosis (fig 1) with a thickening of the eyelid. There was also an inability to open the mouth fully (fig 2) accompanied by furrowing and puckering around the mouth. Her face is drawn. There are lingual and digital telangiectasia (fig 3). A barium swallow (fig 4) performed in the assessment of dysphagia, revealed a loss of peristalsis and a stricture of the oesophagus.

Q2: What is the most likely diagnosis?

Systemic sclerosis is a rare connective tissue disease characterised by fibrotic changes in the skin, blood vessels, and various internal organs such as the lungs and gastrointestinal tract. There are two main variants including limited and diffuse forms (table1).

Serum antinuclear antibodies are a prominent feature of systemic sclerosis with a prevalence ranging from 89% to 95%.1

This case illustrates limited cutaneous systemic sclerosis complicated by pulmonary hypertension.2

Q3: What are the possible explanations for bilateral ptosis and myositis?

Bilateral ptosis is a rare clinical condition. Differential diagnosis is given in box 1. A metabolic origin was excluded by a blood sample. Myasthenia can be associated with systemic sclerosis but bilateral ptosis is generally encountered during myasthenia crisis, which was not the case in our patient.

The bilateral ptosis was caused by thickening of the eyelids.

Muscular involvement is present in the majority of cases of systemic sclerosis (weakness of muscles). A few patients have florid changes of polymyositis and are usually classified as having an overlap syndrome.

Final diagnosis

Systemic sclerosis.