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The central nervous system manifestations of localized craniofacial scleroderma: a study of 10 cases and literature review

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Abstract

Background

Localized craniofacial scleroderma is a rare pediatric disease that involves a spectrum of discoloration, fibrosis and hemiatrophy of the face and scalp. Children with localized craniofacial scleroderma may have neurological symptoms, and in this context often undergo diagnostic imaging of the brain.

Objective

To catalogue neuroimaging abnormalities in patients with localized craniofacial scleroderma treated at our institution, review their clinical courses and compare this data with prior studies.

Materials and methods

Following Institutional Review Board approval, an imaging database search identified 10 patients with localized craniofacial scleroderma and neuroimaging abnormalities treated at our institution. Neuroimaging exams and the electronic medical record were reviewed for each case.

Results

The most common indications for neuroimaging were headache or seizure (80% of cases). The most common neuroimaging abnormalities were T2-hyperintense, subcortical white matter lesions ipsilateral to the cutaneous lesion (90% of cases) on magnetic resonance imaging (MRI). Calcifications or blood products (50%), cysts (40%) and abnormal enhancement (20%) were also observed. A positron emission tomography (PET) scan obtained for a single case demonstrated diminished 18F-fluorodeoxyglucose (FDG) avidity corresponding to the dominant focus of signal abnormality on MRI. Progressive neuroimaging abnormalities were present in 30% of cases. There was no consistent relationship between changes in neurological symptoms following treatment and neuroimaging findings.

Conclusion

Our results are similar to previously published data. In the absence of new or worsening neurological symptoms, the role of neuroimaging for follow-up of localized craniofacial scleroderma is unclear. Knowledge of intracranial neuroimaging abnormalities that are commonly associated with localized craniofacial scleroderma helps to distinguish these lesions from others that have similar appearance.

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References

  1. Holland KE, Steffes B, Nocton JJ et al (2006) Linear scleroderma en coup de sabre with associated neurologic abnormalities. Pediatrics 117:e132–e136

    Article  PubMed  Google Scholar 

  2. Holl-Wieden A, Klink T, Klink J et al (2006) Linear scleroderma 'en coup de sabre' associated with cerebral and ocular vasculitis. Scand J Rheumatol 35:402–404

    Article  CAS  PubMed  Google Scholar 

  3. Kister I, Inglese M, Laxer RM et al (2008) Neurologic manifestations of localized scleroderma: a case report and literature review. Neurology 71:1538–1545

    Article  PubMed  Google Scholar 

  4. Appenzeller S, Montenegro MA, Dertkigil SS et al (2004) Neuroimaging findings in scleroderma en coup de sabre. Neurology 62:1585–1589

    Article  CAS  PubMed  Google Scholar 

  5. Zannin ME, Martini G, Athreya BH et al (2007) Ocular involvement in children with localised scleroderma: a multi-centre study. Br J Ophthalmol 91:1311–1314

    Article  PubMed  PubMed Central  Google Scholar 

  6. Takehara K, Sato S (2005) Localized scleroderma is an autoimmune disorder. Rheumatology (Oxford) 44:274–279

    Article  CAS  Google Scholar 

  7. Fett N, Werth VP (2011) Update on morphea: part I. Epidemiology, clinical presentation, and pathogenesis. J Am Acad Dermatol 64:217–228

    Article  PubMed  Google Scholar 

  8. Fett N, Werth VP (2011) Update on morphea: part II. Outcome measures and treatment. J Am Acad Dermatol 64:231–242

    Article  PubMed  Google Scholar 

  9. Herrick AL, Ennis H, Bhushan M et al (2010) Incidence of childhood linear scleroderma and systemic sclerosis in the UK and Ireland. Arthritis Care Res (Hoboken) 62:213–218

    Article  Google Scholar 

  10. Zulian F, Athreya BH, Laxer R et al (2006) Juvenile localized scleroderma: clinical and epidemiological features in 750 children. An international study. Rheumatology (Oxford) 45:614–620

    Article  CAS  Google Scholar 

  11. Peterson LS, Nelson AM, Su WP (1995) Classification of morphea (localized scleroderma). Mayo Clin Proc 70:1068–1076

    Article  CAS  PubMed  Google Scholar 

  12. Blaszczyk M, Krolicki L, Krasu M et al (2003) Progressive facial hemiatrophy: central nervous system involvement and relationship with scleroderma en coup de sabre. J Rheumatol 30:1997–2004

    PubMed  Google Scholar 

  13. Lehman TJ (1992) The parry Romberg syndrome of progressive facial hemiatrophy and linear scleroderma en coup de sabre. Mistaken diagnosis or overlapping conditions? J Rheumatol 19:844–845

    CAS  PubMed  Google Scholar 

  14. Tolkachjov SN, Patel NG, Tollefson MM (2015) Progressive hemifacial atrophy: a review. Orphanet J Rare Dis 10:39

    Article  PubMed  PubMed Central  Google Scholar 

  15. Tollefson MM, Witman PM (2007) En coup de sabre morphea and parry-Romberg syndrome: a retrospective review of 54 patients. J Am Acad Dermatol 56:257–263

    Article  PubMed  Google Scholar 

  16. Chiu YE, Vora S, Kwon EK et al (2012) A significant proportion of children with morphea en coup de sabre and parry-Romberg syndrome have neuroimaging findings. Pediatr Dermatol 29:738–748

    Article  PubMed  PubMed Central  Google Scholar 

  17. Peterson LS, Nelson AM, Su WP (1997) The epidemiology of morphea (localized scleroderma) in Olmsted County 1960–1993. J Rheumatol 24:73–80

    CAS  PubMed  Google Scholar 

  18. Jablonska S, Blaszczyk M (2005) Long-lasting follow-up favours a close relationship between progressive facial hemiatrophy and scleroderma en coup de sabre. J Eur Acad Dermatol Venereol 19:403–404

    Article  CAS  PubMed  Google Scholar 

  19. Duymaz A, Karabekmez FE, Keskin M et al (2009) Parry-Romberg syndrome: facial atrophy and its relationship with other regions of the body. Ann Plast Surg 63:457–461

    Article  CAS  PubMed  Google Scholar 

  20. Orozco-Covarrubias L, Guzman-Meza A, Ridaura-Sanz C et al (2002) Scleroderma 'en coup de sabre' and progressive facial hemiatrophy. Is it possible to differentiate them? J Eur Acad Dermatol Venereol 16:361–366

    Article  CAS  PubMed  Google Scholar 

  21. Kraus V, Lawson EF, von Scheven E et al (2014) Atypical cases of scleroderma en coup de sabre. J Child Neurol 29:698–703

    Article  PubMed  Google Scholar 

  22. Lis-Swiety A, Brzezinska-Wcislo L, Arasiewicz H (2017) Neurological abnormalities in localized scleroderma of the face and head: a case series study for evaluation of imaging findings and clinical course. Int J Neurosci 127:835–839

    Article  CAS  PubMed  Google Scholar 

  23. Amaral TN, Peres FA, Lapa AT et al (2013) Neurologic involvement in scleroderma: a systematic review. Semin Arthritis Rheum 43:335–347

    Article  PubMed  Google Scholar 

  24. Bucher F, Fricke J, Neugebauer A et al (2016) Ophthalmological manifestations of Parry-Romberg syndrome. Surv Ophthalmol 61:693–701

    Article  PubMed  Google Scholar 

  25. Careta MF, Leite Cda C, Cresta F et al (2013) Prospective study to evaluate the clinical and radiological outcome of patients with scleroderma of the face. Autoimmun Rev 12:1064–1069

    Article  PubMed  Google Scholar 

  26. Stone J, Franks AJ, Guthrie JA et al (2001) Scleroderma "en coup de sabre": pathological evidence of intracerebral inflammation. J Neurol Neurosurg Psychiatry 70:382–385

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  27. Goldberg-Stern H, deGrauw T, Passo M et al (1997) Parry-Romberg syndrome: follow-up imaging during suppressive therapy. Neuroradiology 39:873–876

    Article  CAS  PubMed  Google Scholar 

  28. Luer W, Jockel D, Henze T et al (1990) Progressive inflammatory lesions of the brain parenchyma in localized scleroderma of the head. J Neurol 237:379–381

    Article  CAS  PubMed  Google Scholar 

  29. Paprocka J, Jamroz E, Adamek D et al (2006) Difficulties in differentiation of Parry-Romberg syndrome, unilateral facial sclerodermia, and Rasmussen syndrome. Childs Nerv Syst 22:409–415

    Article  PubMed  Google Scholar 

  30. Sathornsumetee S, Schanberg L, Rabinovich E et al (2005) Parry-Romberg syndrome with fatal brain stem involvement. J Pediatr 146:429–431

    Article  PubMed  Google Scholar 

  31. Unterberger I, Trinka E, Engelhardt K et al (2003) Linear scleroderma "en coup de sabre" coexisting with plaque-morphea: neuroradiological manifestation and response to corticosteroids. J Neurol Neurosurg Psychiatry 74:661–664

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Fain ET, Mannion M, Pope E et al (2011) Brain cavernomas associated with en coup de sabre linear scleroderma: two case reports. Pediatr Rheumatol Online J 9(18)

    Article  PubMed  Google Scholar 

  33. Longo D, Paonessa A, Specchio N et al (2011) Parry-Romberg syndrome and Rasmussen encephalitis: possible association. Clinical and neuroimaging features. J Neuroimaging 21:188–193

    Article  PubMed  Google Scholar 

  34. Menascu S, Padeh S, Hoffman C et al (2009) Parry-Romberg syndrome presenting as status migrainosus. Pediatr Neurol 40:321–323

    Article  PubMed  Google Scholar 

  35. Sakai M, Aoki S, al IY (2008) Silent white matter lesion in linear scleroderma en coup de sabre. J Comput Assist Tomogr 32:822–824

    Article  PubMed  Google Scholar 

  36. Terstegge K, Kunath B, Felber S et al (1994) MR of brain involvement in progressive facial hemiatrophy (Romberg disease): reconsideration of a syndrome. AJNR Am J Neuroradiol 15:145–150

    CAS  PubMed  Google Scholar 

  37. Bergler-Czop B, Lis-Swiety A, Brzezinska-Wcislo L (2009) Scleroderma linearis: hemiatrophia faciei progressiva (Parry-Romberg syndrom) without any changes in CNS and linear scleroderma "en coup de sabre" with CNS tumor. BMC Neurol 9:39

  38. Asher SW, Berg BO (1982) Progressive hemifacial atrophy: report of three cases, including one observed over 43 years, and computed tomographic findings. Arch Neurol 39:44–46

    Article  CAS  PubMed  Google Scholar 

  39. Cory RC, Clayman DA, Faillace WJ et al (1997) Clinical and radiologic findings in progressive facial hemiatrophy (Parry-Romberg syndrome). AJNR Am J Neuroradiol 18:751–757

    CAS  PubMed  Google Scholar 

  40. David J, Wilson J, Woo P (1991) Scleroderma 'en coup de sabre'. Ann Rheum Dis 50:260–262

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  41. Derex L, Isnard H, Revol M (1995) Progressive facial hemiatrophy with multiple benign tumors and hamartomas. Neuropediatrics 26:306–309

    Article  CAS  PubMed  Google Scholar 

  42. Fry JA, Alvarellos A, Fink CW et al (1992) Intracranial findings in progressive facial hemiatrophy. J Rheumatol 19:956–958

    CAS  PubMed  Google Scholar 

  43. Higashi Y, Kanekura T, Fukumaru K et al (2000) Scleroderma en coup de sabre with central nervous system involvement. J Dermatol 27:486–488

    CAS  PubMed  Google Scholar 

  44. Liu P, Uziel Y, Chuang S et al (1994) Localized scleroderma: imaging features. Pediatr Radiol 24:207–209

    Article  CAS  PubMed  Google Scholar 

  45. Menni S, Marzano AV, Passoni E (1997) Neurologic abnormalities in two patients with facial hemiatrophy and sclerosis coexisting with morphea. Pediatr Dermatol 14:113–116

    Article  CAS  PubMed  Google Scholar 

  46. Schievink WI, Mellinger JF, Atkinson JL (1996) Progressive intracranial aneurysmal disease in a child with progressive hemifacial atrophy (Parry-Romberg disease): case report. Neurosurgery 38:1237–1241

    CAS  PubMed  Google Scholar 

  47. Taylor HM, Robinson R, Cox T (1997) Progressive facial hemiatrophy: MRI appearances. Dev Med Child Neurol 39:484–486

    Article  CAS  PubMed  Google Scholar 

  48. Aynaci FM, Sen Y, Erdol H et al (2001) Parry-Romberg syndrome associated with Adie's pupil and radiologic findings. Pediatr Neurol 25:416–418

    Article  CAS  PubMed  Google Scholar 

  49. Carreno M, Donaire A, Barcelo MI et al (2007) Parry Romberg syndrome and linear scleroderma in coup de sabre mimicking Rasmussen encephalitis. Neurology 68:1308–1310

    Article  CAS  PubMed  Google Scholar 

  50. Finley TA, Siatkowski RM (2004) Progressive visual loss in a child with Parry-Romberg syndrome. Semin Ophthalmol 19:91–94

    Article  PubMed  Google Scholar 

  51. Hulzebos CV, de Vries TW, Armbrust W et al (2004) Progressive facial hemiatrophy: a complex disorder not only affecting the face. A report in a monozygotic male twin pair. Acta Paediatr 93:1665–1669

    Article  CAS  PubMed  Google Scholar 

  52. Moko SB, Mistry Y, Blandin de Chalain TM (2003) Parry-Romberg syndrome: intracranial MRI appearances. J Craniomaxillofac Surg 31:321–324

    Article  PubMed  Google Scholar 

  53. Okumura A, Ikuta T, Tsuji T et al (2006) Parry-Romberg syndrome with a clinically silent white matter lesion. AJNR Am J Neuroradiol 27:1729–1731

  54. Sandhu K, Handa S (2004) Subdural hygroma in a patient with Parry-Romberg syndrome. Pediatr Dermatol 21:48–50

    Article  PubMed  Google Scholar 

  55. Shah JR, Juhasz C, Kupsky WJ et al (2003) Rasmussen encephalitis associated with Parry-Romberg syndrome. Neurology 61:395–397

    Article  CAS  PubMed  Google Scholar 

  56. Sommer A, Gambichler T, all B-BM e (2006) Clinical and serological characteristics of progressive facial hemiatrophy: a case series of 12 patients. J Am Acad Dermatol 54:227–233

    Article  PubMed  Google Scholar 

  57. Verhelst HE, Beele H, Joos R et al (2008) Hippocampal atrophy and developmental regression as first sign of linear scleroderma "en coup de sabre". Eur J Paediatr Neurol 12:508–511

    Article  PubMed  Google Scholar 

  58. Yano T, Sawaishi Y, Toyono M et al (2000) Progressive facial hemiatrophy after epileptic seizures. Pediatr Neurol 23:164–166

    Article  CAS  PubMed  Google Scholar 

  59. Chiang KL, Chang KP, Wong TT et al (2009) Linear scleroderma "en coup de sabre": initial presentation as intractable partial seizures in a child. Pediatr Neonatol 50:294–298

    Article  PubMed  Google Scholar 

  60. Qureshi UA, Wani NA, Altaf U (2010) Parry-Romberg syndrome associated with unusual intracranial vascular malformations and phthisis bulbi. J Neurol Sci 291:107–109

    Article  PubMed  Google Scholar 

  61. Sartori S, Martini G, Calderone M et al (2009) Severe epilepsy preceding by four months the onset of scleroderma en coup de sabre. Clin Exp Rheumatol 27(3 Suppl 54):64–67

    CAS  PubMed  Google Scholar 

  62. Takenouchi T, Solomon GE (2010) Alien hand syndrome in Parry-Romberg syndrome. Pediatr Neurol 42:280–282

    Article  PubMed  Google Scholar 

  63. Doolittle DA, Lehman VT, Schwartz KM et al (2015) CNS imaging findings associated with Parry-Romberg syndrome and en coup de sabre: correlation to dermatologic and neurologic abnormalities. Neuroradiology 57:21–34

    Article  PubMed  Google Scholar 

  64. Abdel Razek AA, Alvarez H, Bagg S (2014) Imaging spectrum of CNS vasculitis. Radiographics 34:873–894

    Article  PubMed  Google Scholar 

  65. Chung MH, Sum J, Morrell MJ et al (1995) Intracerebral involvement in scleroderma en coup de sabre: report of a case with neuropathologic findings. Ann Neurol 37:679–681

    Article  CAS  PubMed  Google Scholar 

  66. Danve A, O'Dell J (2015) The role of 18F fluorodeoxyglucose positron emission tomography scanning in the diagnosis and management of systemic vasculitis. Int J Rheum Dis 18:714–724

    Article  CAS  PubMed  Google Scholar 

  67. Zerizer I, Tan K, Khan S et al (2010) Role of FDG-PET and PET/CT in the diagnosis and management of vasculitis. Eur J Radiol 73:504–509

    Article  PubMed  Google Scholar 

  68. Sarikaya I (2015) PET studies in epilepsy. Am J Nucl Med Mol Imaging 5:416–430

    CAS  PubMed  PubMed Central  Google Scholar 

  69. Ding K, Gupta PK, Diaz-Arrastia R (2016) Epilepsy after traumatic brain injury. In: Laskowitz D, Grant G (eds). Translational research in traumatic brain injury. Front Neurosci, Boca Raton

  70. Rostasy K, Bajer-Kornek B, Venkateswaran S et al (2016) Differential diagnosis and evaluation in pediatric inflammatory demyelinating disorders. Neurology 87(9 Suppl 2):S28–S37

    Article  PubMed  Google Scholar 

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Acknowledgements

Dr. Maloney is supported, in part, through a National Institutes of Health, National Research Service Award training grant held by the University of Washington Gastroenterology Division (grant number 5 T32 DK0072). The authors would like to thank Catherine Amlie-Lefond, M.D., and Heather Brandling-Bennett, M.D., who were instrumental in the early formulations of this project.

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Authors and Affiliations

  1. Department of Radiology, University of Washington, Seattle,, WA, USA

    Ezekiel Maloney, Amit K. Chakraborty & Gisele E. Ishak

  2. Department of Radiology, Seattle Children’s Hospital, 4800 Sand Point Way NE, R-5417, Seattle, WA, 98105-3071, USA

    Ezekiel Maloney, Sarah J. Menashe, Ramesh S. Iyer & Gisele E. Ishak

  3. Division of Rheumatology, Seattle Children’s Hospital, Seattle,, WA, USA

    Sarah Ringold

  4. Vantage Radiology, Seattle, WA, USA

    Amit K. Chakraborty

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  1. Ezekiel Maloney
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  2. Sarah J. Menashe
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Correspondence to Gisele E. Ishak.

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Maloney, E., Menashe, S.J., Iyer, R.S. et al. The central nervous system manifestations of localized craniofacial scleroderma: a study of 10 cases and literature review. Pediatr Radiol 48, 1642–1654 (2018). https://doi.org/10.1007/s00247-018-4177-x

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  • DOI: https://doi.org/10.1007/s00247-018-4177-x

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