Das Schimmelpenning-Feuerstein-Mims-Syndrom und seine neurologische Symptomatik

Abstract

The Schimmelpenning-Feuerstein-Mims-syndrome includes deformities and dysplasias of the skin, eyes, brain, skeleton, and heart. It may result from a malformation of the ectodermal and mesodermal blastoderm in the third week of gestation. We here report on 6 patients who presented between 1977 and 1993 in comparison with those cases in the literature. All children presented neurologic symptoms. The major symptom was a linear epidermal nevus. In addition we found mental retardation, convulsions, asymmetries of the cranial structures or dilated cerebral ventricles ipsilateral to the nevus. One child had a defect of the skull and scalp, a symptom not previously mentioned in the literature. Our patients exhibited a wide phenotypice spectrum ranging from mild to severe forms. Severe neurological symptoms were also found in patients despite minimal dermal involvement.

Schimmelpenning-Feuerstein-Mims Syndrome with Hypophosphatemic Rickets

“…This supports the concept of one or several postzygotic somatic mutations causing this syndrome [8]. This mutation occurs most likely prior to or during the third week of gestation, when the neural tube is formed [9]. …”

“…These secondary tumors develop after puberty, sometimes earlier. The most frequent tumor of benign dignity is a syringocystadenoma papilliferum (8–19%), the most frequent malignant tumor is basal cell carcinoma [9]. Some authors postulate that trichoblastoma, and not basal cell carcinoma, is the most frequent tumor associated with nevus sebaceus [10].…”

“…stenosis of the aortic isthmus, angiomas, varicosis), neurological abnormalities (e.g. mental retardation, lateral ventricle enlargement, complete or partial hemimegalencephaly, cranial nerve palsies, epilepsy) [9]. Precocious puberty was described in a few cases [11].…”

Systematisierter Naevus sebaceus mit multiplen sekund�ren Neubildungen als Leitsymptom des Schimmelpenning-Feuerstein-Mims-Syndroms

“…B. zerebrale Störungen, nicht diagnostiziert werden konnten [3]. Einige Autoren beschreiben bei den von ihnen als Schimmelpenning-Feuerstein-Mims-Syndrom diagnostizierten Patienten auffällige Pigmentmale [4,6,19], da die Angaben hierzu jedoch oft nicht eindeutig sind, bleibt die Zuordnung dieses Befunds zum Komplex des Schimmelpenning-Feuerstein-Mims-Syndroms fraglich. Die nahezu die gesamte linke Rückenhälfte einnehmende blaugraue Pigmentierung lässt sich am ehesten einem atypisch lokalisierten Naevus fuscocoeruleus zuordnen.…”

Intraoral lesions associated with sebaceous nevus syndrome

“…Such a mode of inheritance could explain the apparent absence of a non‐mosaic skin disorder corresponding to sebaceus nevi. An early postzygotic mutation would also account for the pronounced phenotypic variability of the sebaceous nevus syndrome 19–21 …”