Pathology · single question

Which feature is characteristic of Ehlers-Danlos syndrome?

  1. Restricted, stiff joints with thickened skin
  2. Progressive fusion of the vertebral column
  3. Symmetrical joint erosion with ulnar deviation
  4. Joint hypermobility with hyperextensible, fragile skin
Show answer and explanation

Correct answer: D. Joint hypermobility with hyperextensible, fragile skin

  • A. STIFF joints with thickened, tight skin describes SYSTEMIC SCLEROSIS (scleroderma) — the opposite connective-tissue phenotype.
  • B. Progressive vertebral fusion (bamboo spine) describes ANKYLOSING SPONDYLITIS, a seronegative spondyloarthropathy.
  • C. Symmetrical erosive small-joint disease with ulnar deviation describes RHEUMATOID ARTHRITIS.
  • D. CORRECT. EHLERS-DANLOS SYNDROME is a heterogeneous group of inherited COLLAGEN disorders whose cardinal features are JOINT HYPERMOBILITY, hyperextensible velvety skin, tissue fragility with poor wound healing and atrophic scarring, and easy bruising. Oral findings include TMJ subluxation and dislocation, a hypermobile tongue that can touch the nose (Gorlin sign), fragile mucosa that tears easily under retraction, early-onset periodontitis and pulp stones.

Note: Practical implications: handle tissues gently, support the mandible carefully to avoid TMJ dislocation during long appointments, keep appointments short, and screen for the vascular type, in which arterial and bowel rupture make it genuinely life-threatening.

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