Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential
| Autor: | Sara S. Cathey, Jennifer A. Lee, Sean Marzolf, Lara Wine Lee, Robert M. Gathings, Michelle Hudspeth, Amit Om |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Mutation business.industry Dermatology RASopathy medicine.disease_cause medicine.disease Epidermal nevus syndrome 030207 dermatology & venereal diseases 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Nevus sebaceous Pediatrics Perinatology and Child Health medicine Nevus KRAS HRAS skin and connective tissue diseases Rhabdomyosarcoma business |
| Zdroj: | Pediatric Dermatology. 34:352-355 |
| ISSN: | 0736-8046 |
| DOI: | 10.1111/pde.13119 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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