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Subjects/Dermatology/Pigmentary Disorders
Pigmentary Disorders
medium
hand Dermatology

A 4-year-old child is brought to the clinic for evaluation of multiple light brown, flat macules on the trunk and extremities. On examination, six such macules, each greater than 0.5 cm in diameter, are noted. This finding, in conjunction with other potential signs, should prompt further investigation for which of the following conditions?

A. A. Tuberous Sclerosis Complex
B. B. Neurofibromatosis Type 1
C. C. McCune-Albright Syndrome
D. D. Peutz-Jeghers Syndrome

Explanation

The presence of six or more café-au-lait macules (CALMs) greater than 0.5 cm in diameter in prepubertal children (or >1.5 cm in postpubertal individuals) is a major diagnostic criterion for Neurofibromatosis Type 1 (NF1). While other conditions can have CALMs, the number and size criteria are highly suggestive of NF1. Tuberous Sclerosis Complex is associated with hypopigmented macules (ash-leaf spots). McCune-Albright syndrome typically presents with large, unilateral CALMs with irregular 'coast of Maine' borders, often associated with polyostotic fibrous dysplasia and endocrinopathies. Peutz-Jeghers syndrome presents with mucocutaneous pigmentation, typically perioral, and gastrointestinal polyps.

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