A 33-year-old woman comes to the office due to swelling affecting her extremities. Over the last 12 months her fingers, arms, and legs have become progressively swollen and somewhat itchy. Physical examination shows diffuse skin thickening extending proximally to the arms, thighs, and trunk. A skin biopsy is performed. Histologic sections show expansion of the dermal layer with atrophy of the intradermal adipose tissue and dermal appendages. High-power images of the dermis demonstrate extensive deposition of dense, eosinophilic connective tissue. This patient is most at risk for which of the following conditions?
Systemic sclerosis | ||
Limited cutaneous | Diffuse cutaneous | |
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Serology |
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Anti–Scl-70 = anti–topoisomerase type I; CREST = Calcinosis, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly & Telangiectasia. | ||
This patient has diffuse skin thickening consistent with systemic sclerosis (SS), an autoimmune disease characterized by widespread fibrosis of multiple organ systems. Early symptoms often include swelling of the fingers and mild pruritus. A characteristic skin biopsy finding is dermal layer expansion due to diffuse deposition of collagen (eosinophilic connective tissue), resulting in atrophy of the intradermal adipose tissue and dermal appendages (ie, hair follicles, glands).
Up to 80% of patients with SS develop pulmonary complications:
Interstitial lung disease is the most common pulmonary complication of diffuse cutaneous SS (ie, skin involvement extending proximal to the wrist that may affect the trunk).
Pulmonary hypertension is the most common pulmonary complication of limited cutaneous SS (ie, skin involvement is mainly in the hands and/or face), which is often associated with CREST syndrome.
(Choice A) Atlantoaxial subluxation is a feared complication of rheumatoid arthritis, as significant neck extension (eg, during intubation) can result in dislocation and spinal cord injury. Rheumatoid arthritis typically presents with pain and swelling of the small joints of the hands and wrists; histology reveals synovial hyperplasia.
(Choice B) SS is associated with scleroderma renal crisis; however, this occurs due to renal vascular injury, not glomerulonephritis. Scleroderma renal crisis often presents as hypertensive emergency with signs of end-organ dysfunction; casts (which are typical in glomerulonephritis) are characteristically absent.
(Choice D) Non-Hodgkin lymphoma is a potential complication of Sjögren syndrome, which typically presents with dry mouth and eyes. Labial salivary gland biopsy demonstrates extensive lymphoid infiltrate with atrophy of the acinar glands.
(Choice E) Ulcerative colitis is often associated with ankylosing spondylitis. Although dactylitis (ie, sausage fingers) can occur with this condition, skin thickening and collagen deposition would be unexpected.
Educational objective:
Systemic sclerosis (SS) is an autoimmune disease characterized by the widespread fibrosis of multiple organ systems. Histology demonstrates expansion of the dermal layer with diffuse collagen deposition and atrophy of the intradermal adipose tissue and dermal appendages. Pulmonary complications are common (eg, interstitial lung disease, pulmonary hypertension).