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Overlap between linear scleroderma, progressive facial hemiatrophy and immune-inflammatory encephalitis in a paediatric cohort

European Journal of Pediatrics volume 174, pages 1247–1254 (2015)Cite this article

Abstract

Linear scleroderma en coup the sabre (LSCS), progressive facial hemiatrophy (PFH) and autoimmune encephalitis are distinct clinical entities, although patients with overlapping features have been reported. We performed a multicenter retrospective review of a series of children with LSCS and/or PFH to explore the relation between these entities. The files of 16 children were reviewed, 11 presented with LSCS, 5 with PFH, with time overlapping cutaneous features were seen. Extracutaneous signs were found in both groups. ANA were present in more than 50 % of patients. Almost half of our patients presented with CNS manifestations comprising unilateral headache, migraine and epilepsy with or without abnormalities on MRI. Brain biopsy in one patient was consistent with Rasmussen encephalitis. In two other children, associated autoimmune manifestations were present.

Conclusion: Our patient cohort brings more arguments to consider LSCS and PFH as a single disease entity with LSCS and superficial skin involvement at one end of the spectrum and PFH with involvement of subcutaneous deep tissue at the other end. In both entities, encephalitis can be observed. Our findings of circulating ANA, intradermal lymphocytes and IgG, intrathecal IgG production and clinical improvement with immunosuppressive therapy endorse the concept of a possible common immune-inflammatory pathogenesis.

What is known:
• LSCS, PFH and immune-inflammatory encephalitis are distinct clinical entities, but patients with overlapping features have been reported.
What is new:
• We present a unique paediatric cohort with LSCS, PFH and/or encephalitis.
• We endorse the concept of a common immune-inflammatory disease process.

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Fig. 1
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Abbreviations

ANA:

Antinuclear antibodies

CSF:

Cerebrospinal fluid

CNS:

Central nervous system

EEG:

Electroencephalography

MRI:

Magnetic resonance imaging

LSCS:

Linear scleroderma en coup the sabre

PFH:

Progressive facial hemiatrophy

SPECT:

Single photon emission computed tomography

References

  1. Armangue T, Petit-Pedrol M, Dalmau J (2012) Autoimmune encephalitis in children. J Child Neurol 27:1460–1469

    PubMed Central  Article  PubMed  Google Scholar 

  2. Bien CG, Granata T, Antozzi C, Cross JH, Dulac O, Kurthen M, Lassmann H, Mantegazza R, Villemure JG, Spreafico R, Elger CE (2005) Pathogenesis, diagnosis and treatment of Rasmussen encephalitis: a European consensus statement. Brain 128:454–471

    CAS  Article  PubMed  Google Scholar 

  3. Bien CG, Urbach H, Deckert M, Schramm J, Wiestler OD, Lassmann H, Elger CE (2002) Diagnosis and staging of Rasmussen’s encephalitis by serial MRI and histopathology. Neurology 58:250–257

    CAS  Article  PubMed  Google Scholar 

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

    PubMed Central  Article  PubMed  Google Scholar 

  5. El-Kehdy J, Abbas O, Rubeiz N (2012) A review of Parry-Romberg syndrome. J Am Acad Dermatol 67:769–784

    Article  PubMed  Google Scholar 

  6. Holland KE, Steffes B, Nocton JJ, Schwabe MJ, Jacobson RD, Drolet BA (2006) Linear scleroderma en coup de sabre with associated neurologic abnormalities. Pediatrics 117:e132–e136

    Article  PubMed  Google Scholar 

  7. Kim SJ, Park YD, Hessler R, Lee MR, Smith JR (2010) Correlation between magnetic resonance imaging and histopathologic grades in Rasmussen syndrome. Pediatr Neurol 42:172–176

    Article  PubMed  Google Scholar 

  8. Korkmaz C, Adapinar B, Uysal S (2005) Beneficial effect of immunosuppressive drugs on Parry-Romberg syndrome: a case report and review of the literature. South Med J 98:940–942

    Article  PubMed  Google Scholar 

  9. Kurzinski K, Torok KS (2011) Cytokine profiles in localized scleroderma and relationship to clinical features. Cytokine 55:157–164

    PubMed Central  CAS  Article  PubMed  Google Scholar 

  10. 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 

  11. Li SC et al (2012) Development of consensus treatment plans for juvenile localized scleroderma: a roadmap toward comparative effectiveness studies in juvenile localized scleroderma. Arthritis Care Res (Hoboken) 64:1175–1185

    CAS  Google Scholar 

  12. Mazzeo N, Fisher JG, Mayer MH, Mathieu GP (1995) Progressive hemifacial atrophy (Parry-Romberg syndrome). Case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 79:30–35

    CAS  Article  PubMed  Google Scholar 

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

    Article  PubMed  Google Scholar 

  14. Shah JR, Juhasz C, Kupsky WJ, Asano E, Sood S, Fain D, Chugani HT (2003) Rasmussen encephalitis associated with Parry-Romberg syndrome. Neurology 61:395–397

    CAS  Article  PubMed  Google Scholar 

  15. Sommer A, Gambichler T, Bacharach-Buhles M, von Rothenburg T, Altmeyer P, Kreuter A (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 

  16. Stone J (2003) Parry-Romberg syndrome: a global survey of 205 patients using the Internet. Neurology 61:674–676

    Article  PubMed  Google Scholar 

  17. Terstegge K, Kunath B, Felber S, Speciali JG, Henkes H, Hosten N (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 

  18. 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 

  19. Zannin ME, Martini G, Athreya BH, Russo R, Higgins G, Vittadello F, Alpigiani MG, Alessio M, Paradisi M, Woo P, Zulian F (2007) Ocular involvement in children with localised scleroderma: a multi-centre study. Br J Ophthalmol 91:1311–1314

    PubMed Central  Article  PubMed  Google Scholar 

  20. Zulian F, Martini G, Vallongo C, Vittadello F, Falcini F, Patrizi A, Alessio M, La TF, Podda RA, Gerloni V, Cutrone M, Belloni-Fortina A, Paradisi M, Martino S, Perilongo G (2011) Methotrexate treatment in juvenile localized scleroderma: a randomized, double-blind, placebo-controlled trial. Arthritis Rheum 63:1998–2006

    CAS  Article  PubMed  Google Scholar 

  21. Zulian F et al (2005) Localized scleroderma in childhood is not just a skin disease. Arthritis Rheum 52:2873–2881

    Article  PubMed  Google Scholar 

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

    CAS  Article  Google Scholar 

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Funding source

No funding was received for this study.

Financial disclosure

The authors have no financial relationships that could be relevant to the work.

Conflict of interest

None of the authors have a conflict of interest.

Author’s contributions

Lien De Somer was responsible for the data collection and analysis from the three different hospitals, drafted the initial manuscript and approved the final manuscript as submitted. Marie-Anne Morren conceptualized and designed the study, supervised the data collection and approved the final manuscript as submitted. Petra CE Hissink Muller and Karine Despontin critically collected data from the Dutch and Luxemburgh patients, respectively, reviewed the manuscript and approved the final manuscript as submitted. Lagae Lieven and Katrien Jansen supervised the data analysis for the paediatric neurology patients, reviewed the manuscript and approved the final manuscript as submitted. Wouters Carine designed the study, coordinated and supervised data collection, critically reviewed the manuscript and approved the final manuscript as submitted.

Author information

Affiliations

  1. Department of Pediatric Rheumatology, University Hospital Leuven, Herestraat 49, 3000, Leuven, Belgium

    Lien De Somer & Carine Wouters

  2. Department of Pediatric Dermatology, University Hospital Leuven, Leuven, Belgium

    Marie-Anne Morren

  3. Department of Pediatric Rheumatology, Leiden University Center, Leiden, The Netherlands

    P. C. E. Hissink Muller

  4. Department of Pediatric Dermatology, Centre Hospitalier du Luxembourg, Luxembourg, Luxembourg

    Karine Despontin

  5. Department of Pediatric Neurology, University Hospital Leuven, Leuven, Belgium

    Katrien Jansen & Lieven Lagae

Authors
  1. Lien De Somer
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  2. Marie-Anne Morren
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  3. P. C. E. Hissink Muller
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  4. Karine Despontin
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  5. Katrien Jansen
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  6. Lieven Lagae
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  7. Carine Wouters
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Corresponding author

Correspondence to Lien De Somer.

Additional information

Revisions received: 24 October 2014/20 December 2014/09 March 2015

Communicated by David Nadal

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De Somer, L., Morren, MA., Muller, P.C.E.H. et al. Overlap between linear scleroderma, progressive facial hemiatrophy and immune-inflammatory encephalitis in a paediatric cohort. Eur J Pediatr 174, 1247–1254 (2015). https://doi.org/10.1007/s00431-015-2532-6

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  • DOI: https://doi.org/10.1007/s00431-015-2532-6

Keywords

  • Autoimmune encephalitis
  • Linear scleroderma en coup de sabre
  • Parry-Romberg syndrome
  • Progressive facial hemiatrophy