Cutaneous Scleroderma with an Unusual Cause for Dysphagia

Case Description: A 62 year old female with a past medical history of hypertension, paroxysmal atrial fibrillation, obstructive sleep apnea, undifferentiated connective tissue disease (UCTD) and positive ANA and Anti-ribonucleoprotein antibodies, presented with progressive dysphagia for solid foods for past 1 year. She denied odynophagia, difficulty in initiating a swallow and weight loss. She was seen by rheumatology and diagnosed with Raynaud's phenomenon, skin tightness, sclerodactyly, hypopigmentation over face suggestive of cutaneous scleroderma after being evaluated by dermatology. Due to the positive serology she had an unspecified connective tissue disorder, hence categorized under UCTD. On interviewing, she gave a typical history of hand pain and change in skin color on exposure to cold, suggestive of Raynaud's phenomenon. Physical exam demonstrated tightening of skin with hypo pigmented lesions. She underwent an esophagogastroduodenoscopy a year ago that was normal. Subsequently a barium swallow showed a bird's beak-like narrowing of the distal esophagus with mild dilation of proximal esophagus suggestive of achalasia [Figure 1]. High-resolution esophageal manometry showed elevated mean peak pressure of upper esophageal sphincter (20.8 mm of Hg) and elevated integrated relaxation pressure (IRP) of 22.1 mm of Hg (normal =.Figure 1Figure 2Discussion: Generally UCTD, scleroderma and connective tissue disorders in general are associated with a low LES tone leading to an increased incidence of gastro-esophageal reflux disease. But in our case this was an unusual presentation of increased LES tone with a decreased relaxation on swallowing, along with ineffective peristalsis. In the last decade HRM has been the standard technique used for evaluation of esophageal dysmotility. In this period there was one reported case of achalasia in a study of 28 patients with systemic sclerosis (Calderaro et al, 2009). Otherwise achalasia has been reported rarely in case reports with Scleroderma. This is a rare presentation of achalasia and must be treated as such with medical therapy or endoscopic dilation.