Neurocutaneous Diseases (Phakomatoses)

  • Horst Urbach
Part of the Medical Radiology book series (MEDRAD)


This chapter describes phakomatoses associated with epilepsy, namely, tuberous sclerosis complex, Sturge–Weber syndrome, neurofibromatosis type 1, meningioangiomatosis, hypomelanosis of Ito, epidermal nevus syndrome and variants, incontinentia pigmenti, lipoproteinosis, and linear scleroderma, which is also known as en coup de sabre syndrome.


Tuberous Sclerosis Complex Infantile Spasm Plexiform Neurofibroma Proteus Syndrome Subependymal Giant Cell Astrocytoma 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Bouwes Bavinck JN, van de Kamp JJP (1985) Organoid naevus phakomatosis: Schimmelpenning–Feuerstein–Mims syndrome. Br J Derm 113:491–492Google Scholar
  2. Carreño M, Donaire A, Barceló MI et al (2007) Parry–Romberg syndrome and linear scleroderma in coup de sabre mimicking Rasmussen encephalitis. Neurology 68(16):1308–1310PubMedCrossRefGoogle Scholar
  3. Chiang KL, Chang KP, Wong TT, Hsu TR (2009) Linear scleroderma “en coup de sabre”: initial presentation as intractable partial seizures in a child. Pediatr Neonatol 50(6):294–298PubMedCrossRefGoogle Scholar
  4. Claeys KG, Claes LR, Van Goethem JW et al (2007) Epilepsy and migraine in a patient with Urbach–Wiethe disease. Seizure 16:465–468PubMedCrossRefGoogle Scholar
  5. Cohen MM Jr, Hayden PW (1979) A newly recognized hamartomatous syndrome. Birth Defects Orig Artic Ser 15:291–296PubMedGoogle Scholar
  6. Dietrich RB, Glidden DE, Roth GM et al (1998) The Proteus syndrome: CNS manifestations. Am J Neuroradiol 19(5):987–990PubMedGoogle Scholar
  7. Enjoltas O, Riche MC, Merland JJ (1985) Facial port-wine stains and Sturge–Weber syndrome. Pediatrics 76:48–51Google Scholar
  8. Gill DS (2006) Age-related findings on MRI in neurofibromatosis type 1. Pediatr Radiol 36:1048–1056PubMedCrossRefGoogle Scholar
  9. Gonçalves FG, de Melo MB, de L Matos V et al (2010) Amygdalae and striatum calcification in lipoid proteinosis. Am J Neuroradiol 31(1):88–90Google Scholar
  10. Gorlin RJ, Cohen MM, Hennekam RCM (2001) Syndromes of the Head and Neck, 4th edn. Oxford University Press, New York, pp 484–488Google Scholar
  11. Greene AK, Rogers GF, Mulliken JB (2007) Schimmelpenning syndrome: an association with vascular anomalies. Cleft Palate Craniofac J 44:208–215PubMedCrossRefGoogle Scholar
  12. Happle R (2010) The group of epidermal nevus syndromes. Part I. Well defined phenotypes. J Am Acad Dermatol 63(1):1–22PubMedCrossRefGoogle Scholar
  13. Hennel SJ, Ekert PG, Volpe JJ, Inder TE (2003) Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol 29(2):148–150PubMedCrossRefGoogle Scholar
  14. Hornstein OP, Knickenberg M (1974) Zur Kenntnis des Schimmelpenning-Feuerstein-Mims-Syndroms (Organoide Naevus-Phakomatose) [in German]. Arch Derm Forsch 250:33–50Google Scholar
  15. Hsieh DT, Chang T (2011) Incontinentia pigmenti: skin and magnetic resonance imaging findings. Arch Neurol 68(8):1080PubMedCrossRefGoogle Scholar
  16. Hubert JN, Callen JP (2002) Incontinentia pigmenti presenting as seizures. Pediatr Dermatol 19(6):550–552PubMedCrossRefGoogle Scholar
  17. Ito M (1952) Studies of melanin: XI. Incontinentia pigmenti achromiens. Tohoku J Exp Med 55(suppl):55–57Google Scholar
  18. Jallo GI, Kothbauer K, Mehta V et al (2005) Meningioangiomatosis without neurofibromatosis: a clinical analysis. J Neurosurg 103(4 Suppl):319–324PubMedGoogle Scholar
  19. Krueger DA, Care MM, Holland K et al (2010) Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med 363(19):1801–1811PubMedCrossRefGoogle Scholar
  20. Longo D, Paonessa A, Specchio N et al (2011) Parry–Romberg syndrome and Rasmussen encephalitis: possible association. Clinical and neuroimaging features. J Neuroimaging 21(2):188–193PubMedCrossRefGoogle Scholar
  21. McCall S, Ramzy MI, Cure JK, Pai GS (1992) Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. Am J Med Genet 43:662–668PubMedCrossRefGoogle Scholar
  22. Meuwissen ME, Mancini GM (2012) Neurological findings in incontinentia pigmenti; a review. Eur J Med Genet 55(5):323–331PubMedCrossRefGoogle Scholar
  23. NIH Consensus Development Conference (1988) Neurofibromatosis: conference statement. Arch Neurol 45:575–578CrossRefGoogle Scholar
  24. Osborne JP, Fryer A, Webb D (1991) Epidemiology of tuberous sclerosis. Ann NY Acad Sci 615:125–127PubMedCrossRefGoogle Scholar
  25. Pascual-Castroviejo I, Roche MC, Martinez Fernández V et al (1994) Incontinentia pigmenti: MR demonstration of brain changes. Am J Neuroradiol 15(8):1521–1527Google Scholar
  26. Pavone L, Curatolo P, Rizzo R et al (1991) Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. Neurology 41:266–271PubMedCrossRefGoogle Scholar
  27. Roach ES, Gomez MR, Northrup H (1998) Tuberous Sclerosis Complex Consensus Conference: revised clinical diagnostic criteria. J Child Neurol 13:624–628PubMedCrossRefGoogle Scholar
  28. Sapp JC, Turner JT, van de Kamp JM et al (2007) Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet 143A:2944–2958PubMedCrossRefGoogle Scholar
  29. Seifert F, Bien CG, Schellinger PD et al (2011) Parry–Romberg syndrome with chronic focal encephalitis: two cases. Clin Neurol Neurosurg 113(2):170–172PubMedCrossRefGoogle Scholar
  30. Sugarman JL (2007) Epidermal nevus syndromes. Semin Cutan Med Surg 26(4):221–230PubMedCrossRefGoogle Scholar
  31. Turner JT, Cohen MM, Biesecker LG (2004) Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet 130A:111–122PubMedCrossRefGoogle Scholar
  32. Urbach E, Wiethe C (1929) Lipoidosis cutis et mucosae. Virch Arch Pathol Anat 273:285–319CrossRefGoogle Scholar
  33. Wiedemann HR, Burgio GR, Aldenhoff P et al (1983) The Proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 140(1):5–12PubMedCrossRefGoogle Scholar
  34. Wolf NI, Krämer N, Harting I et al (2005) Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentation. Am J Neuroradiol 26:1580–1582PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg  2013

Authors and Affiliations

  1. 1.Department of NeuroradiologyUniversity Hospital FreiburgFreiburgGermany

Personalised recommendations