This cancer was a manifestation of scrotal squamous cell carcinoma which had first been noted in 1775 by Sir Percival Pott in climbing boys or chimney sweepers.
SCCs usually occur on portions of the body commonly exposed to the Sun; the face, ears, neck, hands, or arm.
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The cause of the syndrome is a mutation in the PTCH1 tumor-suppressor gene at chromosome 9q22.3, which inhibits the hedgehog signaling pathway.
The first such disease to be recognised, squamous-cell carcinoma of the scrotum was identified in chimney sweep boys by Sir Percival Pott in 1775.