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Legius syndrome

Presents with multiple café-au-lait macules and axillary freckling but is distinguished by the absence of neurofibromas or Lisch nodules seen in NF1.

McCune Albright syndrome

Characterized by large, unilateral café-au-lait macules with distinctive irregular, jagged "coast of Maine" borders.

Neurofibromatosis

The classic presentation of multiple café-au-lait macules with smooth "coast of California" borders, axillary freckling, and the eventual development of neurofibromas.

Noonan syndrome

Cafe-au-lait macules are present but the syndrome is distinguished by characteristic facial features like hypertelorism, low-set ears, and a webbed neck.

Piebaldism

A disorder of depigmentation, presenting with a congenital white forelock and stable white patches, sometimes with hyperpigmented borders that can be mistaken for CALMs.

Tay syndrome

A rare syndrome where cafe-au-lait spots are associated with ichthyosis (scaly skin) and brittle hair (trichothiodystrophy).

Tuberous sclerosis

Primarily characterized by hypopigmented "ash-leaf" spots, not true café-au-lait macules, along with facial angiofibromas and shagreen patches.

Watson syndrome

An allelic variant of NF1 with cafe-au-lait macules, distinguished clinically by the presence of pulmonary stenosis and short stature.

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