Dermatology MCQ - Inflammatory Dermatoses - Chronic graft-versus-host disease

A 38-year-old woman is 14 months post allogeneic hematopoietic stem cell transplant. She presents with tight, sclerotic skin on her arms and trunk, difficulty fully opening her mouth, and persistent dryness of her eyes and mouth. Physical examination reveals poikilodermatous patches on her trunk and prominent lichen planus-like papules on her wrists. Which of the following is the most characteristic finding for the diagnosis of chronic graft-versus-host disease (GVHD)?

A. Gottron's papules and a heliotrope rash
B. Generalized erythroderma with exfoliation
C. Wickham's striae on the buccal mucosa
D. Violaceous, polygonal papules on the ankles
E. Sclerotic skin with fasciitis and joint contractures

Correct Answer: E. Sclerotic skin with fasciitis and joint contractures

Explanation:

• Chronic GVHD typically occurs after day +100 post-transplant and is characterized by features resembling autoimmune connective tissue diseases, such as scleroderma and lichen planus. The presentation described—sclerotic skin, oral stiffness (microstomia), and sicca symptoms—is classic for the sclerotic form of chronic GVHD.

• Why option E is correct: Sclerotic skin changes are a hallmark of severe chronic GVHD. When this sclerosis extends to the underlying fascia, it causes fasciitis, leading to profound joint contractures and significant functional impairment. This finding is highly characteristic and distinguishes chronic GVHD from its acute counterpart and many other conditions.

• Why the other options are incorrect:

  • A. Gottron's papules and a heliotrope rash: These are pathognomonic findings for Dermatomyositis, not GVHD.

  • B. Generalized erythroderma with exfoliation: This is a feature of severe acute GVHD (or other conditions like drug reaction with eosinophilia and systemic symptoms [DRESS] or Sézary syndrome), not the chronic sclerotic form.

  • C. Wickham's striae on the buccal mucosa: While oral lichenoid lesions are common in chronic GVHD, Wickham's striae are the classic finding for idiopathic Lichen Planus. The diagnosis of chronic GVHD relies on the broader clinical context post-transplant, not this single feature.

  • D. Violaceous, polygonal papules on the ankles: This describes the classic lesions of Lichen Planus. Chronic GVHD can present with lichen planus-like eruptions, but the question asks for the most characteristic finding, which in the context of the full vignette (sclerosis, contractures) is the sclerotic change.

Key Points for Exams

• Clinical Spectrum: Chronic GVHD is a multiorgan syndrome. Cutaneous manifestations are diverse and include lichen planus-like eruptions, sclerotic features, poikiloderma (atrophy, telangiectasia, dyspigmentation), and morphea-like plaques.

• Diagnostic Features: Key features beyond the skin include:

  • Oral: Lichen planus-like changes, xerostomia, mucosal atrophy, microstomia.

  • Ocular: Sicca syndrome (severe dry eyes).

  • Other: Esophageal strictures, bronchiolitis obliterans, vaginal stenosis, and hepatic involvement.

• Prognosis: Prognosis is variable. Milder forms can be managed chronically, while severe sclerotic disease with joint contractures and internal organ involvement carries a poor prognosis and significantly impacts quality of life. It is a major cause of late non-relapse mortality after transplant.

• Management:

  1. First-line systemic therapy: Systemic corticosteroids (e.g., prednisone) often in combination with a calcineurin inhibitor (e.g., cyclosporine, tacrolimus).

  2. Second-line therapy: For steroid-refractory disease, options include extracorporeal photopheresis (ECP), mycophenolate mofetil, ibrutinib (approved for this specific indication), rituximab, and low-dose interleukin-2.

  3. Supportive care: Aggressive management of sicca symptoms, physical therapy to prevent contractures, and infection prophylaxis are crucial.