From Aldrovandi’s “<i>Homuncio</i>” (1592) to Buffon’s girl (1749) and the “Wart Man” of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis?

Abstract excerpt

Neurofibromatosis type 1 (NF1) and type 2 both occur in mosaic (segmental) forms.1 When NF1 (and other autosomal dominant skin disorders)1,2 occurs in a linear, patchy, quadrant, or otherwise localised form, two different types of mosaicism can be distinguished.2 Type 1 segmental involvement reflects heterozygosity for a postzygotic mutation occurring in an otherwise healthy embryo. The segmental lesions are...

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