Abstract：
Schimmelpenning-Feuerstein-Mims syndrome (SFMS), an epidermal nevus disease, features skin lesions including craniofacial nevus sebaceous and extracutaneous anomalies (e.g. brain, eye, and bone). Recent genetic studies implicate HRAS, KRAS, and NRAS genes in somatic mutations. Our case, a 48-year-old man, presented with nevus sebaceous on the scalp; pigmented skin lesions on the right side of his neck, back, and chest along the Blaschko lines; a history of epilepsy; and mild intellectual disability. Accordingly, SFMS was suspected. DNA analysis of nevus sebaceous skin and peripheral blood leukocytes showed a pathogenic HRAS variant NM_005343.4:c.34G > A p.(Gly12Ser) in biopsy specimens from different skin layers but not blood, indicating somatic mosaic mutation. Until now, the HRAS p.(Gly12Ser) mutation has been reported in somatic RASopathies but not SFMS. The authors report this mutation in a case of SFMS, review another 15 cases of SFMS, and discuss HRAS c.34G > A p.(Gly12Ser) somatic mutations. RAS mutations of somatic RASopathies share activating hotspot mutations found in cancers, and produce different phenotypes depending on the developmental stage at which the somatic mutations occur.
摘要：
Schimmelpenning-Feuerstein-Mims综合征（SFMS），表皮痣病,特征皮肤病变，包括颅面痣皮脂腺和皮肤外异常(例如，眼睛,和骨头）。最近的遗传研究暗示了HRAS，KRAS,和体细胞突变中的NRAS基因。我们的案子,一个48岁的男人,头皮上有皮脂腺痣；颈部右侧有色素皮肤损伤，回来,沿着Blaschko线的胸部；癫痫病史；和轻度智力残疾。因此，SFMS被怀疑。皮脂腺痣皮肤和外周血白细胞的DNA分析显示致病性HRAS变体NM_005343.4：c.34G>Ap。（Gly12Ser）在来自不同皮肤层但不是血液的活检标本中，表明体细胞镶嵌突变。直到现在,HRASp。（Gly12Ser）突变已在体细胞放射病中报道，但未在SFMS中报道。作者在一例SFMS病例中报告了这种突变，审查另外15例SFMS，并讨论HRASc.34G>Ap。（Gly12Ser）体细胞突变。体细胞放射病的RAS突变共享在癌症中发现的激活热点突变，并根据体细胞突变发生的发育阶段产生不同的表型。
