🩺 Chapter 745 · Cutis Laxa

Nelson Textbook of Pediatrics 22nd Edition | Cutis laxa (CL): rare heterogeneous disorders characterized by loose, redundant, sagging skin (inelastic, hangs in folds) due to defects in elastic fibers. Autosomal dominant (ELN): mild, mainly skin, risk of aortic aneurysm/emphysema. Autosomal recessive (ARCL1-3): more severe, associated with emphysema, diverticula, developmental delay. X-linked (ATP7A): occipital horn syndrome (copper transport, Menkes spectrum). Acquired cutis laxa (post-inflammatory).

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📋 30 Clinical Scenarios — Cutis Laxa

📇 High‑Yield Review Cards

🩺 Clinical Recognition: Cutis Laxa

Select a presentation to review diagnostic clues and management per Nelson Ch 745.

📋 Stepwise Management of Cutis Laxa

🔑 Key Principles — Nelson Chapter 745
• Autosomal Dominant Cutis Laxa (ADCL, ELN): ELN mutations (elastin). Skin laxity (mainly cosmetic), risk of aortic root dilation, emphysema, diverticula. Onset infancy. Management: annual echocardiogram, pulmonary function tests.
• Autosomal Recessive Cutis Laxa Type 1 (ARCL1): FBLN5, LTBP4. Severe skin laxity, emphysema (progressive), gastrointestinal/genitourinary diverticula, hernias. Early mortality from respiratory failure.
• Autosomal Recessive Cutis Laxa Type 2 (ARCL2): ATP6V0A2 (glycosylation defect), PYCR1. Developmental delay, intrauterine growth restriction, skeletal anomalies, skin laxity (improves with age).
• Autosomal Recessive Cutis Laxa Type 3 (ARCL3, de Barsy syndrome): PYCR1, ALDH18A1 (proline synthesis). Progeroid features (aged appearance), athetoid movements, cataracts, severe developmental delay.
• X-Linked Cutis Laxa (Occipital Horn Syndrome): ATP7A (copper transport, same gene as Menkes). Occipital exostoses (horns), bladder diverticula, connective tissue laxity, mild intellectual disability.

    ⚡ Reflex Prompts — Clinical Decisions

    📖 Summary: Cutis Laxa (Nelson 745)