A 49-year-old woman presents with skin changes on her face and hands and gastroesophageal reflux disease. Examination of her face shows multiple telangiectasias and tight skin over her nose and around her mouth (Figure 190-1). Examination of her hands shows tight skin over the fingers with some deformities due to the tightening of the skin (Figure 190-2). A closer look at an individual finger shows pitting of the skin and loss of the soft tissue of the distal phalanx (Figure 190-3). A "salt-and-pepper" appearance is noted on the forearms (Figure 190-4) and lower legs. Some firm nodules around the elbows are consistent with calcinosis. Her cardiopulmonary exam is normal. Further history reveals Raynaud's phenomenon. A diagnosis of CREST syndrome and scleroderma is made. The physician orders blood tests, chest X-ray (CXR), and pulmonary function tests (PFTs) to determine if this is limited cutaneous systemic sclerosis or diffuse systemic sclerosis.
Scleroderma with CREST syndrome in a 49-year-old woman. Note the telangiectasias and tight skin around the mouth. The tight skin on the nose gives a "beak" appearance. (Reproduced with permission from Richard P. Usatine, MD.)
Sclerodactyly with tight skin over the fingers and some flexion deformities. (Reproduced with permission from Richard P. Usatine, MD.)
Sclerodactyly—close-up of a finger with pitting of skin and resorption of the distal phalanx. (Reproduced with permission from Richard P. Usatine, MD.)
Scleroderma with salt-and-pepper appearance on the forearm of a 49-year-old woman with CREST syndrome. (Reproduced with permission from Richard P. Usatine, MD.)
Scleroderma (from the Greek scleros, to harden) is a term that describes the presence of thickened, hardened skin. It may affect only limited areas of the skin (morphea), most or all of the skin (scleroderma), or also involve internal organs (systemic sclerosis).
The prevalence rates of diseases that share scleroderma as a clinical feature are reported ranging from 4 to 253 cases per 1 million individuals.1
Systemic sclerosis has an annual incidence of 1 to 2 per 100,000 individuals in the United States.1 The peak onset is between the ages of 30 and 50 years.1
In the United States, the incidence of morphea has been estimated at 25 cases per 1 million individuals per year.1
Worldwide, there are higher rates in the United States and Australia than in Japan or Europe.2
Pulmonary fibrosis and pulmonary arterial hypertension are the leading causes of death ...