📊 Table 693.2: Conditions Featuring Café au Lait Macules (CALMs)

Nelson Textbook of Pediatrics 22nd Edition | Differential diagnosis of multiple café-au-lait macules: Neurofibromatosis type 1 (NF1), Legius syndrome, McCune-Albright, Noonan syndrome, LEOPARD (Noonan with lentigines), constitutional mismatch repair deficiency (CMMRD), tuberous sclerosis, ataxia-telangiectasia, Fanconi anemia, and other RASopathies. Genetic testing approach.

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📋 30 MCQs — CALM Conditions (Table 693.2)

📇 Review Cards | CALM-Associated Syndromes

🩺 CALM Features → Differential Diagnosis

Select a CALM presentation to identify the syndrome, gene, and diagnostic workup.

📋 Diagnostic Algorithm: Child with Multiple CALMs

🔑 Key Points — Table 693.2
• NF1: ≥6 CALMs + axillary/inguinal freckling + neurofibromas + Lisch nodules + optic glioma + skeletal dysplasia. NF1 gene.
• Legius (SPRED1): CALMs + axillary freckling + macrocephaly + learning disabilities. NO neurofibromas, Lisch nodules, or tumors.
• McCune-Albright: Irregular 'coast of Maine' CALMs + polyostotic fibrous dysplasia + precocious puberty. GNAS mosaic.
• Noonan/LEOPARD: CALMs + short stature + webbed neck + pulmonic stenosis + lentigines (LEOPARD). PTPN11, SOS1, RAF1.
• CMMRD: CALMs + early-onset cancers (brain, colon, hematologic) + family history of Lynch syndrome. MLH1, MSH2, MSH6, PMS2.
• Tuberous sclerosis: Ash leaf spots (hypopigmented) + CALMs possible. TSC1/TSC2.

    ⚡ Reflex Prompts — CALM Syndromes

    📖 Summary: Conditions with Café au Lait Macules (Nelson Table 693.2)