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Schimmelpenning-Feuerstein-Mims syndrome

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A congenital syndrome of anomalies affecting multiple body systems, especially the skin, skeleton, eyes, and central nervous system. The naevi are generally present at birth and subsequently undergo pigmentary and verrucuous changes, having special predilection for the face and scalp. Associated features may be mental retardation, focal epilepsy, spastic hemiparesis, defects of the aorta, lesions of the ribs, cleft palate; ocular lesions, including coloboma of the iris and retina and pipodermoids of the conjunctiva and cornea, and corneal opacity. Etiology unknown. In some cases, Dandy-Walker malformation. Usually sporadic. Few instances of inheritance, autosomal dominant.

Schimmelpenning described the syndrome in 1957 when he worked as an assistant in the department of neurology and psychiatry at Münster. His patient was a 17 year-old woman with a "phacomatosis" that was difficult to categorize.

Feuerstein and Mims from California described the condition in 1962, without knowing of Schimmelpenning's publication. The term "epidermal nevus syndrome" was introduced in 1968 by Solomon et al.

Jadassohn nevus phakomatosis is entered as Jadassohn's disease II, under Josef Jadassohn, German dermatologist, 1863-1936.


  • J. Jadassohn:
    Bemerkungen zur Histologie der systematisierten Naevi und über "Talgdrüse-Naevi".
    Archiv für Dermatologie und Syphilis, Berlin, 1895, 88: 355-394
  • G. W. Schimmelpenning:
    Klinischer Beitrag zur Symptomatologie der Phakomatosen.
    Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin, Stuttgart, 1957, 87 (6): 716-720. Langjährige Verlaufsbeobachtung einer organoiden Nävusphakomatose (Schimmelpenning-Feuerstein-Mims-Syndrom).
    Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin, Hamburg, 1983, 139: 63-67.
  • R. C. Feuerstein, L. C. Mims:
    Linear nevus sebaceous with convulsion and mental retardation.
    American Journal of Diseases of Children, Chicago, 1962, 104: 675-679.
  • P. M. Marden, H. D. Venters:
    A new neurocutaneous syndrome.
    American Journal of Diseases of Children, Chicago, 1966, 112: 79-81.
  • L. B. Meyerson:
    Nevus unius lateralis, brain tumor, and diencephalic syndrome.
    Archives of Dermatology, Chicago, 1967, 96: 501-504.
  • R. H. Monahan et al:
    Multiple choristomas, convulsions and mental retardation as a new neurocutaneous syndrome.
    American Journal of Ophthalmology, Chicago, 1967, 64:529-532.
  • E. J. Moynahan, O. H. Wolff:
    A new neurocutaneous syndrome (skin, eye, brain) consisting of linear nevus, bilateral lipodermoids of the conjunctiva, cranial thickening, cerebral cortical atrophy, and mental retardation.
    The British Journal of Dermatology, 1967, 79: 651-652.
  • L. L. Solomon, D. F. Fretzin, R. L. Dewald:
    The epidermal nevus syndrome.
    Archives of Dermatology, Chicago, 1968, 97: 273-285.

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