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Linear sebaceous nevus sequence

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Description

Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001).

OMIM

  • Mode of Inheritance

  • Sporadic
  • Somatic mosaicism

VARIANTS

12

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Genes

External Links

  • OMIM

    163200

  • Orphanet
  • HPO

    7278

  • Medgen

    C4552097

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