CRESTSyndrom

CREST syndrome, also known as limited cutaneous systemic sclerosis, is a form of systemic sclerosis characterized by the five features encoded in the acronym CREST: Calcinosis, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia. It is considered a limited subset of the disease, with skin involvement mainly on the face and distal extremities, and a relative emphasis on vascular and mucosal manifestations rather than widespread skin thickening.

Pathophysiology centers on autoimmune processes with microvascular injury and progressive fibrosis that can affect the skin and, in some cases, internal organs. The condition is frequently associated with specific autoantibodies, most commonly anticentromere antibodies, which aid in diagnosis and counseling. Disease progression is variable, and organ involvement is monitored over time.

Diagnosis is clinical, supported by serology and imaging. The presence of the CREST components suggests the diagnosis, and testing often includes anticentromere antibodies. Additional evaluations may include esophageal manometry to assess motility, nailfold capillaroscopy to evaluate capillary changes, and imaging or pulmonary function tests to screen for internal organ involvement such as pulmonary hypertension or interstitial lung disease.

Management is multidisciplinary and aimed at relieving symptoms, preserving function, and monitoring for organ involvement. Treatments address Raynaud phenomenon (often with vasodilators), esophageal reflux and dysmotility (acid suppression and dietary adjustments), skin tightening (rehabilitation to maintain hand function), and management of calcinosis and telangiectasia as needed. Regular screening for pulmonary arterial hypertension and interstitial lung disease is recommended, as these complications have significant impact on prognosis.

Prognosis is generally better than in diffuse systemic sclerosis, but CREST carries risks of vascular complications and PAH. The condition predominantly affects middle-aged adults and is more common in women.