🧬 Section 517 · Dyskeratosis Congenita (DC)

Nelson Textbook of Pediatrics 22nd Edition | Dyskeratosis congenita: telomere biology disorder. Classic mucocutaneous triad: nail dystrophy, lacy reticular pigmentation, oral leukoplakia. Very short telomeres (<1st percentile). Bone marrow failure (90%), pulmonary fibrosis, hepatic veno-occlusive disease, MDS/AML, solid tumors (SCC). Treatment: androgens (danazol), HSCT (high risk of complications due to telomere defect).

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📋 30 Clinical Scenarios — Dyskeratosis Congenita

📇 High‑Yield Review Cards (Dyskeratosis Congenita)

🩺 Clinical Recognition: Dyskeratosis Congenita

Select a presentation for diagnostic clues and management.

📋 Stepwise Management of Dyskeratosis Congenita

🔑 Key Principles — Nelson Chapter 517 (DC)
• Diagnosis: Very short telomeres (<1st percentile) by flow-FISH. Genetic testing (DKC1, TINF2, TERC, TERT, RTEL1, PARN, etc.).
• Bone marrow failure: Androgens (danazol) may improve counts. G-CSF for neutropenia.
• HSCT: Only curative, but high morbidity (pulmonary fibrosis, hepatic VOD, graft failure). Reduced-intensity conditioning.
• Cancer screening: Annual oral exam, skin exam, gynecologic exam (SCC risk). Pulmonary function tests (fibrosis).
• Avoid: Tobacco, radiation, hepatotoxic drugs.

    ⚡ Reflex Prompts — Clinical Decisions in Dyskeratosis Congenita

    📖 Summary: Dyskeratosis Congenita — Nelson Section 517