Schimmelpenning–Feuerstein–Mims syndrome: A case series and brief literature review of genetically ascertained cases

Nevus Sebaceous Syndrome: A Case Report and Literature Review of the Associated Neurological Complications

“…Importantly, the earlier in embryogenesis they occur, the more widespread the nevus and the greater the chance (and more extensive and severe) of extracutaneous anomalies. Among patients diagnosed with NSS (which we consider identical to LNSS), HRAS mutations were the most common, including G13R [34,35,[48][49][50][51], G12C [25], G12S [26], and G13V [23], as were KRAS mutations, specifically G12D [14,22,24,25,26,27,30], G12V [28], G12C [20,53], and A146T [31]. One NRAS mutation (Q61R) was found, marking the first causative NRAS mutation in NSS [5], as well as unique mutations such as in the PRKRIR gene (A1674T, R558S) for one patient, and a mutation in the RRP7A gene (C670T, R224W) in another [27].…”