Klinischer Beitrag zur Symptomatologie der Phakomatosen

The group of epidermal nevus syndromes

“…22 The phenotype was comprehensively described in 1957 by Gustav Schimmelpenning. 23 It is the best known ENS, and some authors still prefer to categorize it as ''the ENS.'' [24][25][26][27][28][29][30] The terminology of this birth defect is rather confusing and includes, in addition to Schimmelpenning syndrome, 5,21,31 many other names, such as Feurstein, FeuersteinFeurstein, Feuerstein Mims syndrome, [32][33][34] Schimmelpenning-Feuerstein-Mims syndrome, 35-37 Solomon syndrome, [38][39][40] ENS, 12,38,[41][42][43][44][45][46] Jadassohn nevus phacomatosis, [47][48][49] Jadassohn-Schimmelpenning-Feuerstein-Mims syndrome, 50 organoid nevus phacomatosis, 35,51 organoid nevus syndrome, 52,53 sebaceous nevus syndrome, [54][55][56][57][58] linear sebaceous nevus syndrome, 50,[59][60][61][62][63][64] and Jadassohn sebaceous nevus syndrome.…”

Discordance for Schimmelpenning–Feuerstein–Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation

“…The characteristically yellowish, waxy, and hairless lesion is typically found on the scalp and face. Schimmelpenning [1957] reported a large nevus sebaceus in a 17-year-old girl with seizures, ocular and skeletal anomalies. Five years later, Feuerstein and Mims [1962] described two patients presenting with a craniofacial linear nevus sebaceous, seizures, and mental retardation.…”

Linear nevus sebaceous syndrome with lissencephaly

“…2,3 Numerous subsequent reports have confirmed that linear nevus sebaceous syndrome is frequently associated with ocular, hearing, cardiovascular, skeletal, hepatic, and urinary tract anomalies. 4 No definite genetic or chromosomal abnormality has been found for this syndrome, except one mosaic dominant lethal gene mutation.…”