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Abstract

This chapter reviews the clinical and imaging features of selected neurocutaneous diseases. The following conditions are included: Neurofibromatosis type 1, Neurofibromatosis type 2, Tuberous sclerosis complex, Sturge-Weber syndrome, Neurocutaneous melanosis, Basal cell nevus syndrome, Incontinentia pigmenti, Gardner syndrome, McCune Albright syndrome, Waardenburg syndrome, Oculocutaneous albinism, Marfan syndrome, Menkes disease, Sjogren-Larsson syndrome, and Ataxia-telangiectasia. Additional neurocutaneous syndromes are included in Chap. 7.

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References

  • Aboukais R, Zairi F, Baroncini M, Bonne NX, Schapira S, Vincent C, Lejeune JP. Intracranial meningiomas and neurofibromatosis type 2. Acta Neurochir. 2013;155(6):997–1001. discussion 1001

    Article  Google Scholar 

  • Aoki S, Barkovich AJ, Nishimura K, Kjos BO, Machida T, Cogen P, Edwards M, Norman D. Neurofibromatosis types 1 and 2: cranial MR findings. Radiology. 1989;172(2):527–34. PMID: 2501822

    Article  CAS  Google Scholar 

  • Barkovich AJ, Frieden IJ, Williams ML. MR of neurocutaneous melanosis. AJNR Am J Neuroradiol. 1994;15(5):859–67. PMID: 8059652

    CAS  PubMed  Google Scholar 

  • Benedikt RA, Brown DC, Walker R, Ghaed VN, Mitchell M, Geyer CA. Sturge-Weber syndrome: cranial MR imaging with Gd-DTPA. AJNR Am J Neuroradiol. 1993;14(2):409–15. PMID: 8456721

    CAS  PubMed  Google Scholar 

  • Bognanno JR, Edwards MK, Lee TA, Dunn DW, Roos KL, Klatte EC. Cranial MR imaging in neurofibromatosis. AJR Am J Roentgenol. 1988;151(2):381–8.

    Article  CAS  Google Scholar 

  • Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009;61(1):1–14.

    Article  Google Scholar 

  • Brillante B, Guthrie L, Van Ryzin C. McCune-Albright Syndrome: an overview of clinical features. J Pediatr Nurs. 2015;30(5):815–7. PMID: 26209174

    Article  Google Scholar 

  • Bronoosh P, Shakibafar AR, Houshyar M, Nafarzade S. Imaging findings in a case of Gorlin-Goltz syndrome: a survey using advanced modalities. Imaging Sci Dent. 2011;41(4):171–5. PMID: 22232727

    Article  Google Scholar 

  • Cassiman C, Legius E, Spileers W, Casteels I. Ophthalmological assessment of children with neurofibromatosis type 1. Eur J Pediatr. 2013 May.; PMID: 23708214

    Google Scholar 

  • De Paepe A, Devereux RB, Dietz HC, Hennekam RCM, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996;62:417–26.

    Article  Google Scholar 

  • DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000;105(3):608–14.

    Article  CAS  Google Scholar 

  • Di Rocco C, Tamburrini G. Sturge-Weber syndrome. Childs Nerv Syst. 2006;22(8):909–21. PMID: 16823586

    Article  Google Scholar 

  • Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352(6333):337–9.

    Article  CAS  Google Scholar 

  • Dirks MS, Butman JA, Kim HJ, Wu T, Morgan K, Tran AP, Lonser RR, Asthagiri AR. Long-term natural history of neurofibromatosis Type 2-associated intracranial tumors. J Neurosurg. 2012;117(1):109–17.

    Article  Google Scholar 

  • van Domburg PH, Willemsen MA, Rotteveel JJ, de Jong JG, Thijssen HO, Heerschap A, Cruysberg JR, Wanders RJ, Gabreëls FJ, Steijlen PM. Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients. Neurology 1999;52(7):1345–1352.

    Google Scholar 

  • Dumitrescu CE, Collins MT. McCune-Albright Syndrome. Orphanet J Rare Dis. 2008;3:11. PMID: PMC2459161

    Article  Google Scholar 

  • Elmaleh-Bergès M, Baumann C, Noël-Pétroff N, Sekkal A, Couloigner V, Devriendt K, Wilson M, Marlin S, Sebag G, Pingault V. Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations. AJNR Am J Neuroradiol. 2013;34(6):1257–63. PMID: 23237859

    Article  Google Scholar 

  • Evans DGR, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet. 1993;30:460–4.

    Article  CAS  Google Scholar 

  • Fini G, Belli E, Mici E, Virciglio P, Moricca LM, D'Itri L, Leonardi A, Malavenda MS, Krizzuk D, Merola R, Maturo A, Pasta V. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report. G Chir. 2013;34(5–6):176–9. PMID: 23837959

    CAS  PubMed  PubMed Central  Google Scholar 

  • Fortman BJ, Kuszyk BS, Urban BA, Fishman EK. Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 2001;21(3):601–12. PMID: 11353109

    Article  CAS  Google Scholar 

  • Franz DN, Leonard J, Tudor C, Chuck G, Care M, Sethuraman G, Dinopoulos A, Thomas G, Crone KR. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol. 2006;59(3):490–8. PMID: 16453317

    Article  CAS  Google Scholar 

  • Friedrich RE, Stelljes C, Hagel C, Giese M, Scheuer HA. Dysplasia of the orbit and adjacent bone associated with plexiform neurofibroma and ocular disease in 42 NF-1 patients. Anticancer Res. 2010;30(5):1751–64. PMID: 20592374

    PubMed  Google Scholar 

  • Greenberger S, Berkun Y, Ben-Zeev B, Levi YB, Barziliai A, Nissenkorn A. Dermatologic manifestations of ataxia-telangiectasia syndrome. J Am Acad Dermatol. 2013;68(6):932–6.

    Article  Google Scholar 

  • Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007;2(2):43. PMID: 17980020

    Article  Google Scholar 

  • Ha HI, Seo JB, Lee SH, Kang JW, Goo HW, Lim TH, Shin MJ. Imaging of Marfan syndrome: multisystemic manifestations. Radiographics. 2007;27(4):989–1004.

    Article  Google Scholar 

  • Hassell DS, Bancroft LW, Kransdorf MJ, Peterson JJ, Berquist TH, Murphey MD, Fanburg-Smith JC. Imaging appearance of diffuse neurofibroma. AJR Am J Roentgenol. 2008;190(3):582–8.

    Article  Google Scholar 

  • Jacobs DS, Smith AS, Finelli DA, Lanzieri CF, Wiznitzer M. Menkes kinky hair disease: characteristic MR angiographic findings. AJNR Am J Neuroradiol. 1993;14(5):1160–3.

    CAS  PubMed  Google Scholar 

  • Jelinek J, Smirniotopoulos JG, Parisi JE, Kanzer M. Lateral ventricular neoplasms of the brain: differential diagnosis based on clinical, CT, and MR findings. AJR Am J Roentgenol. 1990;155(2):365–72. PMID: 2115270

    Article  CAS  Google Scholar 

  • Kalantari BN, Salamon N. Neuroimaging of tuberous sclerosis: spectrum of pathologic findings and frontiers in imaging. AJR Am J Roentgenol. 2008;190(5):W304–9.

    Article  Google Scholar 

  • Karlsgodt KH, Rosser T, Lutkenhoff ES, Cannon TD, Silva A, Bearden CE. Alterations in white matter microstructure in neurofibromatosis-1. PLoS One. 2012;7(10):e47854. PMID: 23094098

    Article  CAS  Google Scholar 

  • Kim OH, Suh JH. Intracranial and extracranial MR angiography in Menkes disease. Pediatr Radiol. 1997;27(10):782–4.

    Article  CAS  Google Scholar 

  • Lekalakala PT, Khammissa RA, Kramer B, Ayo-Yusuf OA, Lemmer J, Feller L. Oculocutaneous albinism and squamous cell carcinoma of the skin of the head and neck in Sub-Saharan Africa. J Skin Cancer. 2015;2015:167847.

    Article  CAS  Google Scholar 

  • Lin DD, Barker PB, Lederman HM, Crawford TO. Cerebral abnormalities in adults with ataxia-telangiectasia. AJNR Am J Neuroradiol. 2014;35(1):119–23.

    Article  CAS  Google Scholar 

  • Livingstone E, Claviez A, Spengler D, Barth H, Stark AM, Hugo HH, Hauschild A. Neurocutaneous melanosis: a fatal disease in early childhood. J Clin Oncol. 2009;27(13):2290–1. PMID: 19349541

    Article  Google Scholar 

  • Lo W, Marchuk DA, Ball KL, Juhász C, Jordan LC, Ewen JB, Comi A, Comi A. Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement. Dev Med Child Neurol. 2012;54(3):214–23. PMID: 22191476

    Article  Google Scholar 

  • Manara R, D’Agata L, Rocco MC, Cusmai R, Freri E, Pinelli L, Darra F, Procopio E, Mardari R, Zanus C, Di Rosa G, Soddu C, Severino M, Ermani M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases Neuroimaging Changes in Menkes Disease, Part 2. AJNR Am J Neuroradiol 2017a 38 (10) 1858–1865.

    Google Scholar 

  • Manara R, D'Agata L, Rocco MC, Cusmai R, Freri E, Pinelli L, Darra F, Procopio E, Mardari R, Zanus C, Di Rosa G, Soddu C, Severino M, Ermani M, Longo D, Sartori S, Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases. Neuroimaging Changes in Menkes Disease, Part 1. AJNR Am J Neuroradiol. 2017b;38(10):1850–7.

    Article  CAS  Google Scholar 

  • Mano T, Ono J, Kaminaga T, Imai K, Sakurai K, Harada K, Nagai T, Rizzo WB, Okada S. Proton MR spectroscopy of Sjögren-Larsson’s syndrome. AJNR Am J Neuroradiol. 1999;20(9):1671–3.

    CAS  PubMed  Google Scholar 

  • Mcketton L, Kelly KR, Schneider KA. Abnormal lateral geniculate nucleus and optic chiasm in human albinism. J Comp Neurol. 2014;522(11):2680–7.

    Article  Google Scholar 

  • McMurdo SK Jr, Moore SG, Brant-Zawadzki M, Berg BO, Koch T, Newton TH, Edwards MS. MR imaging of intracranial tuberous sclerosis. AJR Am J Roentgenol. 1987;148(4):791–6. PMID: 3493666

    Article  Google Scholar 

  • Meuwissen ME, Mancini GM. Neurological findings in incontinentia pigmenti; a review. Eur J Med Genet. 2012;55(5):323–31.

    Article  Google Scholar 

  • Nozaki T, Nosaka S, Miyazaki O, Makidono A, Yamamoto A, Niwa T, Tsutsumi Y, Aida N, Masaki H, Saida Y. Syndromes associated with vascular tumors and malformations: a pictorial review. Radiographics. 2013;33(1):175–95. PMID: 23322836

    Article  Google Scholar 

  • Peleg R, Treister-Goltzman Y. Images in clinical medicine: McCune-Albright syndrome. J Clin Endocrinol Metab. 2014;99(4):1105–6. PMID: 24476078

    Article  CAS  Google Scholar 

  • Perrini P, Caniglia M, Pieroni M, Castagna M, Parenti GF. Malignant transformation of intramedullary melanocytoma: case report. Neurosurgery. 2010;67(3):E867–9. PMID: 20657325

    Article  Google Scholar 

  • Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 2010;31(4):391–406. PMID: 20127975

    Article  CAS  Google Scholar 

  • Plotkin SR, O'Donnell CC, Curry WT, Bove CM, MacCollin M, Nunes FP. Spinal ependymomas in neurofibromatosis Type 2: a retrospective analysis of 55 patients. J Neurosurg Spine. 2011;14(4):543–7.

    Article  Google Scholar 

  • Poziomczyk CS, Recuero JK, Bringhenti L, Maria FD, Campos CW, Travi GM, Freitas AM, Maahs MA, Zen PR, Fiegenbaum M, Almeida ST, Bonamigo RR, Bau AE. Incontinentia pigmenti. An Bras Dermatol. 2014;89(1):26–36. PMID: 24626645

    Article  Google Scholar 

  • Ramaswamy V, Delaney H, Haque S, Marghoob A, Khakoo Y. Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis. Dev Med Child Neurol. 2012;54(6):563–8. PMID: 22469364

    Article  Google Scholar 

  • Rea D, Brandsema JF, Armstrong D, Parkin PC, deVeber G, MacGregor D, Logan WJ, Askalan R. Cerebral arteriopathy in children with neurofibromatosis type 1. Pediatrics. 2009;124(3):e476–83.

    Article  Google Scholar 

  • Rehefeldt-Erne S, Nägeli MC, Winterton N, Felderer L, Weibel L, Hafner J, Dummer R. Nevoid basal cell carcinoma syndrome: report from the Zurich Nevoid Basal Cell Carcinoma Syndrome Cohort. Dermatology. 2016;232(3):285–92.

    Article  Google Scholar 

  • Sahama I, Sinclair K, Pannek K, Lavin M, Rose S. Radiological imaging in ataxia telangiectasia: a review. Cerebellum. 2014;13(4):521–30.

    Article  Google Scholar 

  • Sartip K, Kaplan A, Obeid G, Kadom N. Neuroimaging of nevoid basal cell carcinoma syndrome (NBCCS) in children. Pediatr Radiol. 2013;43(5):620–7. PMID: 23151728

    Article  Google Scholar 

  • Schroeder RD, Angelo LS, Kurzrock R. NF2/Merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. Oncotarget. 2013. [Epub ahead of print). PMID: 24393766.

    Google Scholar 

  • Sevick RJ, Barkovich AJ, Edwards MS, Koch T, Berg B, Lempert T. Evolution of white matter lesions in neurofibromatosis type 1: MR findings. AJR Am J Roentgenol. 1992;159(1):171–5. PMID: 1609692

    Article  CAS  Google Scholar 

  • Slattery WH. Neurofibromatosis type 2. Otolaryngol Clin N Am. 2015;48(3):443–60.

    Article  Google Scholar 

  • Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan Med Surg. 1997;16(1):15–23. PMID: 9125761

    Article  CAS  Google Scholar 

  • Tavani F, Zimmerman RA, Berry GT, Sullivan K, Gatti R, Bingham P. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Neuroradiology. 2003;45(5):315–9.

    Article  CAS  Google Scholar 

  • Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. Radiographics. 2008;28(7):e32. PMID: 18772274

    Article  Google Scholar 

  • Van Mieghem F, Van Goethem JW, Parizel PM, van den Hauwe L, Cras P, De Meirleire J, De Schepper AM. MR of the brain in Sjögren-Larsson syndrome. AJNR Am J Neuroradiol. 1997;18(8):1561–3.

    PubMed  Google Scholar 

  • Wasenko JJ, Rosenbloom SA, Duchesneau PM, Lanzieri CF, Weinstein MA. The Sturge-Weber syndrome: comparison of MR and CT characteristics. AJNR Am J Neuroradiol. 1990;11(1):131–4. PMID: 2105594

    CAS  PubMed  Google Scholar 

  • Willemsen MA, Van Der Graaf M, Van Der Knaap MS, Heerschap A, Van Domburg PH, Gabreëls FJ, Rotteveel JJ. MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy. AJNR Am J Neuroradiol. 2004;25(4):649–57.

    PubMed  Google Scholar 

  • Zafeiriou DI, Vargiami E, Hatzidimitriou V, Kyriazi M. Incontinentia pigmenti: a skin, brain, and eye matter. J Pediatr. 2013;163(5):1520. PMID: 23896188

    Article  Google Scholar 

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Tonsgard, J., Xiao, A., Ginat, D.T. (2019). Imaging of Neurocutaneous Diseases. In: Ginat, D. (eds) Neuroradiological Imaging of Skin Diseases and Related Conditions. Springer, Cham. https://doi.org/10.1007/978-3-319-90931-8_3

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