Limited cutaneous systemic sclerosis

Limited cutaneous systemic sclerosis (lcSSc), formerly known as CREST syndrome (Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia), is a subtype of systemic sclerosis (scleroderma) characterized by skin thickening that is restricted to areas distal to the elbows and knees, though the face and neck may also be involved. It is an autoimmune connective tissue disorder in which the immune system triggers excessive collagen production, leading to fibrosis of the skin and internal organs, along with vasculopathy affecting small blood vessels. Raynaud's phenomenon is typically the earliest and most prominent feature, often preceding other manifestations by years or even decades. Patients commonly develop digital ulcers, sclerodactyly (tightening of the skin on the fingers), telangiectasias (dilated blood vessels visible on the skin and mucous membranes), esophageal dysmotility causing gastroesophageal reflux and swallowing difficulties, and subcutaneous calcinosis. A serious complication specific to lcSSc is pulmonary arterial hypertension (PAH), which can develop insidiously and significantly impacts prognosis. Interstitial lung disease may also occur, though it is generally less severe than in diffuse cutaneous systemic sclerosis. Anti-centromere antibodies (ACA) are found in approximately 50-90% of patients and serve as a hallmark serological marker for this subtype. There is currently no cure for limited cutaneous systemic sclerosis, and treatment is directed at managing specific organ manifestations and symptoms. Calcium channel blockers and phosphodiesterase-5 inhibitors are used for Raynaud's phenomenon, proton pump inhibitors for esophageal symptoms, and endothelin receptor antagonists, phosphodiesterase-5 inhibitors, or prostacyclin analogues for pulmonary arterial hypertension. Immunosuppressive agents such as mycophenolate mofetil may be used for progressive interstitial lung disease. Regular screening for PAH with echocardiography and pulmonary function testing is essential for early detection and intervention. The disease predominantly affects women, with a female-to-male ratio of approximately 4-9:1, and typically presents in middle adulthood.

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