Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants

CA Chang, R Perrier, KC Kurek… - American Journal of …, 2021 - Wiley Online Library
Mosaic KRAS variants and other RASopathy genes cause oculoectodermal, encephalo‐
cranio‐cutaneous lipomatosis, and Schimmelpenning‐Feuerstein‐Mims syndromes, and a …

Epidermal nevus syndrome

FS Laura - Handbook of Clinical Neurology, 2013 - Elsevier
Epidermal nevus syndrome (ENS) is an inclusive term for a heterogeneous group of
congenital disorders characterized by the presence of epidermal nevi associated with …

Autopsy case of linear nevus sebaceous syndrome with KRAS (G12D) mutation

A Ohishi, Y Enomoto, H Iwafuchi… - Pathology …, 2024 - Wiley Online Library
Linear nevus sebaceous syndrome (LNSS) is a neurocutaneous syndrome associated with
systemic complications that involve multiple organs, including the skin, central nervous …

Renal Involvement in Linear Nevus Sebaceous Syndrome—An Underrecognized Feature

C Kuok, K Chan - Pediatric Reports, 2021 - mdpi.com
Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous disorder. It is
characterized by the presence of nevus sebaceous, ocular anomalies, neurological deficits …

[HTML][HTML] Epidermal nevus syndromes: neurologic phenotypes

L Flores-Sarnat - medlink.com
The term “epidermal nevus syndromes” defines a group of conditions characterized by the
association of epidermal nevi with systemic manifestations. The two syndromes associated …