Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential

Pediatric Dermatology
Amit OmLara Wine Lee

Abstract

Phacomatosis pigmentokeratotica (PPK) is a rare epidermal nevus syndrome characterized by the co-occurrence of a nevus sebaceous arranged along the lines of Blaschko with a speckled lentiginous nevus (SLN). We report a novel KRAS mutation in a patient with a large nevus sebaceous and an SLN who subsequently developed a vaginal botryoid rhabdomyosarcoma, an association not previously reported in the literature. This case expands our knowledge of the genetic basis for phacomatosis, in which mutations in HRAS have been previously described, although this report provides evidence that activating mutations in KRAS or HRAS may cause PPK. This report confirms that PPK is a mosaic RASopathy with malignant potential and raises the question of whether screening for other RAS-associated malignancies should be performed for all children with PPK.

References

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Citations

Feb 13, 2018·The British Journal of Dermatology·M Prieto-BarriosJ L Rodriguez-Peralto
Nov 6, 2018·The British Journal of Dermatology·D H SiegelB A Drolet
Nov 8, 2019·American Journal of Medical Genetics. Part a·Benjamin GarrenJacob S Hogue
Feb 16, 2019·The Australasian Journal of Dermatology·William C CranwellIngrid Winship
Feb 5, 2021·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Jonathan C SlackKyle C Kurek
Feb 16, 2021·Journal of the American Academy of Dermatology·Daniele Torchia, Rudolf Happle
Jun 1, 2021·American Journal of Medical Genetics. Part a·Caitlin A ChangKim M Keppler-Noreuil
Jun 12, 2021·American Journal of Medical Genetics. Part a·Vanessa Franziska SchmidtMartin Zenker

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