A 43-year-old woman has had increasing difficulty swallowing over the past year. She notices that her hands turn white and are painful on exposure to cold. She remarks, “I may be getting older, but at least I don’t have any wrinkles on my face or hands yet.” On physical examination, her blood pressure is 115/75 mm Hg. The skin of her face and hands appears taut and shiny. A punch biopsy specimen of the skin of the hand shows dermal collagenous fibrosis and focal calcification. She receives yearly esophageal dilation for the next 20 years, during which time she develops no serious illnesses. Which of the following serologic test results is most likely to be positive in this woman?
A 43-year-old woman has had increasing difficulty swallowing over the past year. She notices that her hands turn white and are painful on exposure to cold. She remarks, “I may be getting older, but at least I don’t have any wrinkles on my face or hands yet.” On physical examination, her blood pressure is 115/75 mm Hg. The skin of her face and hands appears taut and shiny. A punch biopsy specimen of the skin of the hand shows dermal collagenous fibrosis and focal calcification. She receives yearly esophageal dilation for the next 20 years, during which time she develops no serious illnesses. Which of the following serologic test results is most likely to be positive in this woman?
💡 Explanation
**Core Concept**
The patient's symptoms and biopsy findings suggest a systemic condition characterized by dermal collagenous fibrosis, skin hyperextensibility, and esophageal dysmotility, leading to difficulty swallowing.
**Why the Correct Answer is Right**
The patient's skin and esophageal symptoms are characteristic of Ehlers-Danlos syndrome (EDS), a group of genetic disorders affecting collagen production. The patient's dermal collagenous fibrosis and focal calcification on biopsy are hallmarks of the condition. EDS is associated with mutations in genes encoding for collagen-producing enzymes, such as prolyl 3-hydroxylase (P3H) and lysyl hydroxylase (LH). The patient's lack of wrinkles and esophageal dysmotility are also consistent with EDS.
**Why Each Wrong Option is Incorrect**
**Option A:** Anti-Scl-70 (anti-topoisomerase I) antibodies are associated with systemic sclerosis (scleroderma), which presents with skin thickening, not fibrosis and calcification.
**Option B:** Anti-Ro (SS-A) antibodies are associated with Sjögren's syndrome, which presents with dry eyes and mouth, not skin or esophageal symptoms.
**Option C:** Anti-Jo-1 (histidyl-tRNA synthetase) antibodies are associated with polymyositis and dermatomyositis, which present with muscle weakness and skin rash, not skin fibrosis and calcification.
**Option D:** Anti-citrullinated protein antibodies (anti-CCP) are associated with rheumatoid arthritis, which presents with joint inflammation and not skin or esophageal symptoms.
**Clinical Pearl / High-Yield Fact**
Ehlers-Danlos syndrome is a group of genetic disorders characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. Patients with EDS are at increased risk of gastrointestinal complications, including esophageal dysmotility and rupture.
**Correct Answer:** A.
✓ Correct Answer: A. Anticentromere antibody
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