[PDF][PDF] Novel postzygotic KRAS mutation in a Japanese case of epidermal nevus syndrome presenting with two distinct clinical features, keratinocytic epidermal nevi …
井川哲子， イガワサトミ， 本間大… - The Journal of …, 2016 - asahikawa-med.repo.nii.ac.jp
Epidermal nevus syndrome (ENS) is a heterogeneous congenital disorder 2 characterized
by the presence of epidermal nevi associated with systemic involvement. 3 Keratinocytic
epidermal nevus (KEN) syndrome and sebaceous nevus (SN) syndrome 4 are included in
ENS which share the same postzygotic HRAS and KRAS gene mutations 5 that is relevant
for cell proliferation. 1, 2 A HRAS mutation can induce nevus marginatus, 6 a combined
nevus of KEN and SN, 3 and this suggests an identical genetic background 7 of KEN and …
by the presence of epidermal nevi associated with systemic involvement. 3 Keratinocytic
epidermal nevus (KEN) syndrome and sebaceous nevus (SN) syndrome 4 are included in
ENS which share the same postzygotic HRAS and KRAS gene mutations 5 that is relevant
for cell proliferation. 1, 2 A HRAS mutation can induce nevus marginatus, 6 a combined
nevus of KEN and SN, 3 and this suggests an identical genetic background 7 of KEN and …