Stiff hands and feet, facial deformities

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Stiff hands and feet, facial deformities

J Fam Pract. 2016 February;65(2):121-124

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References

1. Scleroderma. American College of Rheumatology Web site. Available at: http://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Scleroderma. Accessed January 7, 2016.

2. Chatterjee S. Systemic scleroderma. Cleveland Clinic Web site. August 2010. Available at: http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/rheumatology/systemic-sclerosis/. Accessed January 7, 2016.

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4. Bunn CC, Denton CP, Shi-Wen X, et al. Anti-RNA polymerases and other autoantibody specificities in systemic sclerosis. Br J Rheumatol. 1998;37:15-20.

5. van den Hoogen F, Khanna D, Fransen J, et al. 2013 classification criteria for systemic sclerosis: an American college of rheumatology/European league against rheumatism collaborative initiative. Ann Rheum Dis. 2013;72:1747-1755.

6. Pavlov-Dolijanovic S, Damjanov NS, Stojanovic RM, et al. Scleroderma pattern of nailfold capillary changes as predictive value for the development of a connective tissue disease: a follow-up study of 3,029 patients with primary Raynaud’s phenomenon. Rheumatol Int. 2012;32:3039-3045.

7. Lung involvement. University of Michigan Health System, Scleroderma Program Web site. Available at: https://www.med.umich.edu/scleroderma/patients/lung.htm. Accessed January 7, 2016.

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Dx: Limited systemic sclerosis

Systemic sclerosis (SSc) is a rare autoimmune disease that mainly affects women ages 30 to 50.¹ SSc is classified according to the extent of skin involvement and includes limited SSc (lSSc), which is also called CREST syndrome, and diffuse SSc (dSSc).

CREST stands for:

calcinosis, or subcutaneous calcium deposits,
Raynaud’s phenomenon,
esophageal dysfunction,
sclerodactyly, which presents as tightening of the skin of the fingers or toes, and
telangiectasia, which is characterized by dilated superficial capillaries, usually on the face, arms, and hands.²

Patients like ours who have lSSc experience a gradual progression of symptoms. Their skin is affected in limited areas, such as the fingers, hands, face, lower arms, and feet. There is no involvement of the chest, abdomen, or internal organs, with the exception of the esophagus. Esophageal smooth muscle becomes atrophied and is replaced by fibrous tissue, leading to esophageal motility dysfunction. This is in contrast to dSSc, in which you would see involvement of internal organs such as the lungs, kidneys, and gastrointestinal tract.

Raynaud’s phenomenon is commonly the first symptom of lSSc, and often precedes other manifestations of the disease by years. Raynaud’s phenomenon is triggered by cold conditions and emotional stress, which cause spasms and narrowing of the blood vessels of the skin. Telangiectasia and calcinosis often follow skin tightening and thickening on the face and hands.

The differential diagnosis for lSSc includes dSSc, pseudoscleroderma, and systemic sclerosis sine scleroderma (ssSSc) (TABLE).^2-4 In 2013, a joint committee of the American College of Rheumatology (ACR) and the European League Against Rheumatism published revised classification criteria for SSc based on a scoring systemto improve sensitivity because the 1980 ACR criteria did not classify some cases of limited cutaneous SSc.⁵ Based on these revised criteria, patients having a total score of 9 or more are classified as having SSc. Our patient’s score was 15.