Pediatric Radiology

, Volume 33, Issue 9, pp 637–640 | Cite as

Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims)

  • Luitgard M. Neumann
  • Ianina Scheer
  • Jürgen Kunze
  • Brigitte Stöver
Case Report


The report focuses on a rare variant form of epidermal nevus syndrome (ENS) (Schimmelpenning-Feuerstein-Mims syndrome) describing lesions involving the skin, eyes, skeleton, heart and brain in an 11-year-old boy. Despite his evident brain pathology, the boy lacks neurological symptoms and mental retardation. We describe his unusual MRI appearances and radiographic skeletal findings. To our knowledge this is the first report of ENS with lymphoedema occurring together in the same individual.


Epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims) Fibrous dysplasia Hemihypertrophy Lymphoedema MRI 


  1. 1.
    Lever WF, Schaumburg-Lever G (1983) Tumors of the dermal appendages. In: Lever WF, Schaumburg-Lever G (eds) Histopathology of the skin, 6th edn. Lippincott, Philadelphia, pp 578–650Google Scholar
  2. 2.
    Jones EW, Heyl T (1970) Naevus sebaceous. A report of 140 cases with special regard to the development of malignant tumours. Br J Dermatol 82:99–103PubMedGoogle Scholar
  3. 3.
    Happle R (1995) Epidermal nevus syndromes. Semin Dermatol 14:111–121PubMedGoogle Scholar
  4. 4.
    Schimmelpenning GW (1983) Langjährige verlaufskontrolle einer organoiden nävusphakomatose (Schimmelpenning-Feuerstein-Mims). Fortschr Röntgenstr 139:63–67Google Scholar
  5. 5.
    Sato K, Kubota T, Kitai R (1994) Linear sebaceous nevus syndrome (sebaceous nevus of Jadassohn) associated with abnormal neuronal migration and optic glioma: case report. Neurosurgery 35:318–320PubMedGoogle Scholar
  6. 6.
    Gurecki P, Holden KR, Sahn EE, et al (1996) Developmental neural abnormalities and seizures in epidermal nevus syndrome. Dev Med Child Neurol 38:716–723PubMedGoogle Scholar
  7. 7.
    Vles JS, Degraeuwe P, DeCock P, et al (1985) Neuroradiological findings in Jadassohn nevus phakomatosis: a report of four cases. Eur J Pediatr 144:290–294PubMedGoogle Scholar
  8. 8.
    Leonidas JC, Wolpert SM, Feingold M, et al (1979) Radiographic features of the linear nevus sebaceous syndrome. AJR 132:277–279Google Scholar
  9. 9.
    Fretzin DF, Lawrence MS (1968) The epidermal nevus syndrome. Cutis 4:1336–338Google Scholar
  10. 10.
    Sakuta R, Aikawa H, Takashima S, et al (1991) Epidermal nevus syndrome with hemimegalencephaly: neuropathological study. Brain Dev 13:260–265PubMedGoogle Scholar
  11. 11.
    Solomon LM, Fretzin DF, Dewald RL (1968) The epidermal nevus syndrome. Arch Dermatol 97:275–285Google Scholar
  12. 12.
    Happle R (1993) Mosaicism in human skin. Arch Dermatol 129:1460–1470CrossRefPubMedGoogle Scholar
  13. 13.
    Chalhub EG, Volpe JJ, Gado MH (1975) Linear nevus sebaceous syndrome associated with porencephaly and nonfunctioning major cerebral sinuses. Neurology 25:857–860PubMedGoogle Scholar
  14. 14.
    Holden KR, Dekaban AS (1972) Neurological involvement in nevus unis lateralis and nevus linearis sebaceus. Neurology 22:879–887PubMedGoogle Scholar
  15. 15.
    Solomon LM, Esterley NB (1968) Epidermal and other congenital organoid nevi. Curr Probl Pediatr 6:3-56Google Scholar
  16. 16.
    Spranger J, Langer LO, Wiedemann HR (1974) Bone dysplasias. Fischer, Stuttgart, p 203Google Scholar

Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • Luitgard M. Neumann
    • 1
  • Ianina Scheer
    • 2
  • Jürgen Kunze
    • 1
  • Brigitte Stöver
    • 2
  1. 1.Institute of Human GeneticsCharité13353 Berlin
  2. 2.Pediatric Radiology Strahlenklinik und PoliklinikCharitéGermany

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