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Lint: cafe-au-lait-spots

Acronyms
warning

"neurofibromatosis type 1 (NF1): spots with smooth borders which have been likened to the coast of California, a western state in the USA"

Line 9:148 · 'USA' has no definition. Spell it out if it's unfamiliar to the audience.

"McCune-Albright syndrome: typically irregular spots which have been likened to the coast of Maine, a far northeastern state in the USA"

Line 17:146 · 'USA' has no definition. Spell it out if it's unfamiliar to the audience.

"PTEN hamartoma tumour syndrome"

Line 21:11 · 'PTEN' has no definition. Spell it out if it's unfamiliar to the audience.
Semicolons
suggestion

"Café au lait spots, or café au lait macules, are a type of pigmented skin lesions which are classically described as being light brown in colour but may vary in colour from light brown to dark brown; this is reflected by the name of the lesions, which means “coffee with milk”."

Line 1:236 · Use semicolons judiciously.