Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation
S Farschtschi, VF Mautner, S Hollants, C Hagel… - BMC Medical …, 2015 - Springer
S Farschtschi, VF Mautner, S Hollants, C Hagel, M Spaepen, C Schulte, E Legius, H Brems
BMC Medical Genetics, 2015•SpringerBackground 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. Case
presentation In this study we present a patient with hyper-and hypopigmented regions,
verrucous pigmented skin lesions and a paravertebral conglomerate tumour at the level of …
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. Case
presentation In this study we present a patient with hyper-and hypopigmented regions,
verrucous pigmented skin lesions and a paravertebral conglomerate tumour at the level of …
Background
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.
Case presentation
In this study we present a patient with hyper- and hypopigmented regions, verrucous pigmented skin lesions and a paravertebral conglomerate tumour at the level of the cervical and thoracic spine. A large lipomatous dumbbell tumour caused atrophy of the spinal cord with progressive paraparesis. We identified a mosaic c.35G > A (p.Gly12Asp) KRAS mutation in the pigmented verrucous epidermal nevus tissue, the intraneural schwann cells and the lipoma. The c.35G > A (p.Gly12Asp) KRAS mutation was absent in the peripheral blood leukocytes.
Conclusion
We conclude that KENS, the intraneural Schwann cell proliferation and the lipoma in this individual were caused by a postzygotic and mosaic activating c.35G > A (p.Gly12Asp) KRAS mutation.
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