[Long-term observation of a case of organoid naevus phakomatosis (Schimmelpenning-Feuerstein-Mims syndrome)].
The course of an organoid naevus phakomatosis (Schimmelpenning-Feuerstein-Mims syndrome) was observed in one patient over 25 years. Although the syndrome was fully developed, it has so far remained relatively benign, without limiting the patient's ability to work. During the course of the disease various investigations were carried out (CT, brain scintigrams, chromosome analysis). These confirm that the outstanding feature consisting of fibrous bone dysplasia of the skull continues to progress into adult life. In addition, the presence of intracerebral calcification could be demonstrated. Examination of the chromosomes suggests that further similar cases should also be examined, since the aetiology and pathogenesis of this phakomatosis are still unknown.
D000328:Adult; D001932:Brain Neoplasms / Q000000981:diagnostic imaging*; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000473:pathology; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005357:Fibrous Dysplasia of Bone / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D009506:Nevus / Q000000981:diagnostic imaging / Q000235:genetics*; D012640:Seizures / Q000209:etiology; D012886:Skull / Q000000981:diagnostic imaging* / Q000473:pathology; D012888:Skull Neoplasms / Q000000981:diagnostic imaging*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
Langjährige Verlaufsuntersuchung einer organoiden Nävusphakomatose (Schimmelpenning-Feuerstein-Mims-Syndrom).