Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation

Farschtschi, Said; Mautner, Victor-Felix; Hollants, Silke; Hagel, Christian; Spaepen, Marijke; Schulte, Christoph; Legius, Eric; Brems, Hilde

doi:10.1186/s12881-015-0146-5

Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation

Author:

Farschtschi, Said

Mautner, Victor-Felix ; Hollants, Silke ; Hagel, Christian ; Spaepen, Marijke ; Schulte, Christoph ; Legius, Eric ; Brems, Hilde

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Keratinocytic epidermal nevus syndrome, KRAS, Mosaicism, RASopathy, Somatic mutation, FGFR3 MUTATION, POSTZYGOTIC HRAS, INVOLVEMENT, CANCER, RAS, Adolescent, Cell Proliferation, Child, Child, Preschool, Female, Humans, Infant, Lipoma, Male, Mutation, Nevus, Proto-Oncogene Proteins, Proto-Oncogene Proteins p21(ras), Schwann Cells, Skin Diseases, Young Adult, ras Proteins, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics, 3202 Clinical sciences

Abstract:

Keratinocytic epidermal nevus syndrome (KENS) is a complex disorder not only characterized by the presence of epidermal nevi but also by abnormalities in the internal organ systems. A small number of cases with KENS are molecularly characterized and reported in the literature with somatic activating RAS, FGFR3 and PIK3CA mutations.