II. Definition

  1. CNS syndromes associated with dermatologic findings

III. Pathophysiology

  1. Familial disorders of ectoderm differentiation

IV. Neurocutaneous conditions

  1. Neurofibromatosis
  2. Tuberous Sclerosis
  3. Sturge-Weber Disease
  4. Von Hippel-Lindau Disease
  5. Ataxia telangiectasia
  6. Linear Nevus Syndrome
  7. Hypomelanosis of Ito
  8. Incontinentia pigmenti

V. References

  1. Behrman (2000) Nelson Textbook of Pediatrics, p. 1835
  2. Kandt (2002) Neurol Clin 20(4):941-64 [PubMed]

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Ontology: Neurocutaneous Syndromes (C0265316)

Definition (NCI) A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome.
Definition (MSH) A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
Concepts Congenital Abnormality (T019)
MSH D020752
ICD10 Q85.9
SnomedCT 78572006
English Phacomatosis, Phakomatosis, Phakomatoses, Phakomatosis, unspecified, NEUROCUTANEOUS DIS, neurocutaneous disorders (diagnosis), neurocutaneous disorders, Neurocutaneous Disorder, Neurocutaneous Disorders, Neuroectodermal Dysplasia Syndrome, Neuroectodermal Dysplasia Syndromes, Syndrome, Neuroectodermal Dysplasia, Syndromes, Neuroectodermal Dysplasia, Neurocutaneous Syndromes, Syndrome, Neurocutaneous, Syndromes, Neurocutaneous, Phacomatoses, Neurocutaneous Syndrome, Neurocutaneous Syndromes [Disease/Finding], neurocutaneous syndromes, phacomatosis, phacomatoses, phakomatoses, neurocutaneous syndrome, anomalies of skin phakomatoses, Phakomatoses (diagnosis), Neurocutaneous disorders, Neurocutaneous syndrome, Neuroectodermal dysplasia, Neurocutaneous syndrome (disorder), phakomatosis, Neuroectodermal dysplasia, NOS, Phakomatosis, NOS
French Dysplasies neuro-ectodermiques, Syndrome neurocutané, Neuro-ectodermoses congénitales, Dysplasie neuroectodermique, Neuroectodermose congénitale, Neuroectodermoses congénitales, Phacomatose, Syndromes neurocutanés, Phacomatoses, Dysplasies neuroectodermiques, Syndromes neuroectodermiques
Swedish Neurokutana syndrom
Japanese ボハンショウ, 神経皮膚症候群, 神経外胚葉性異形成症候群, 母斑症
Czech neurokutánní syndromy, fakomatózy, neuroektodermální dysplastické syndromy, Fakomatózy
Finnish Neurokutaaniset oireyhtymät
Russian FAKOMATOZ, NEIROEKTODERMAL'NAIA DISPLAZIIA, NEIROKOZHNYE SINDROMY, НЕЙРОКОЖНЫЕ СИНДРОМЫ, НЕЙРОЭКТОДЕРМАЛЬНАЯ ДИСПЛАЗИЯ, ФАКОМАТОЗ
German Phakomatose, nicht naeher bezeichnet, Neuroektodermale Dysplasie-Syndrome, Neurokutane Syndrome, Phakomatosen, Phakomatose
Italian Sindromi da displasia neuroectodermale, Facomatosi, Disordini neurocutanei, Sindromi neurocutanee
Korean 상세불명의 모반증
Croatian Not Translated[Neurocutaneous Syndromes]
Polish Fakomatozy, Zespoły nerwowo-skórne, Zespoły dysplazji neurodermalnej
Hungarian Phakomatosis
Norwegian Nevrokutane syndromer, Fakomatose
Dutch facomatose, Facomatose, niet gespecificeerd, Facomatose, Neuro-ectodermaal dysplasiesyndroom, Neurocutaan syndroom, Neurocutane syndromen, Phacomatose, Syndromen, neurocutane, Syndroom, neurocutaan
Spanish displasia neuroectodérmica (trastorno), displasia neuroectodérmica, facomatosis, síndrome neurocutáneo, Facomatosis, Síndromes de Displasia Neuroectodérmica, Síndromes Neurocutáneos
Portuguese Facomatose, Facomatoses, Síndromes de Displasias Neuroectodérmicas, Síndromes Neurocutâneas