Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell.

@article{Groesser2013PhacomatosisPI,
  title={Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell.},
  author={Leopold Groesser and Eva Herschberger and Ana Sagrera and Tor A Shwayder and Katharina Flux and Laura Maximiliane Ehmann and Andreas Wollenberg and Antonio Torrelo and Lorea Bagazgoitia and Blanca D{\'i}az-Ley and Sigrid Tinschert and I Oschlies and Sebastian Singer and Marion Mickler and Agust{\'i} Toll and M{\'i}chael Landthaler and Francisco X Real and Christian Hafner},
  journal={The Journal of investigative dermatology},
  year={2013},
  volume={133 8},
  pages={1998-2003}
}
Phacomatosis pigmentokeratotica (PPK) is a rare epidermal nevus syndrome characterized by the co-occurrence of a sebaceous nevus and a speckled lentiginous nevus. The coexistence of an epidermal and a melanocytic nevus has been explained by two homozygous recessive mutations, according to the twin spot hypothesis, of which PPK has become a putative paradigm in humans. However, the underlying gene mutations remained unknown. Multiple tissues of six patients with PPK were analyzed for the… CONTINUE READING
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