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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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
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The authors have no financial relationships that could be relevant to the work.
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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.
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Communicated by David Nadal
Revisions received: 24 October 2014/20 December 2014/09 March 2015
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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