Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential

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 subs...

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Published in:Pediatric dermatology 2017, Vol.34 (3), p.352-355
Main Authors: Om, Amit, Cathey, Sara S, Gathings, Robert M, Hudspeth, Michelle, Lee, Jennifer A, Marzolf, Sean, Wine Lee, Lara
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container_issue 3
container_start_page 352
container_title Pediatric dermatology
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creator Om, Amit
Cathey, Sara S
Gathings, Robert M
Hudspeth, Michelle
Lee, Jennifer A
Marzolf, Sean
Wine Lee, Lara
description 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.
doi_str_mv 10.1111/pde.13119
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title Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential
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