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

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.

Localized scleroderma: clinical and epidemiological features with emphasis on adulthood‐ versus childhood‐onset disease differences

“…seizures, headaches/migraines, stroke) up to 56%, ophthalmologic (e.g. uveitis, enophthalmos/exophthalmos) up to 14% and dental disorders up to 41% – in ECDS and/or PFH, mostly described . According to Zulian et al ., orthopedic complications occurred in 12.1% of entire group of children and 69.2% of those with linear JLS, neurologic findings were observed in 4.4% of entire group of children and in 23.4% of those with face–head subtype.…”

Immunopathogenesis of Pediatric Localized Scleroderma

“…These brain lesions seem to be more epileptogenic than other autoimmune diseases, such as multiple sclerosis (20). Furthermore, analysis of CSF obtained via lumbar puncture reveals findings consistent with an inflammatory process in some LSh patients demonstrating oligoclonal bands, elevated IgG levels, and autoantibodies (22–24). Further evidence supporting CNS inflammation includes histologic findings of LSh brain biopsies, which demonstrate the same changes as seen in skin: chronic perivascular lymphocytic inflammation with some vessels showing intimal thickening and hyalinization (25).…”

Pediatric morphea state‐of‐the‐art literature review: Reframing morphea as a systemic disease

“…103,104,108 Rare case reports have described vascular ectasia 109 or a chronic inflammatory process on neuropathology. 106,[110][111][112] Still others suggest a disruption of neural crest migration as the underlying cause. 113 Notably, neuroimaging abnormalities do not seem to correlate with cutaneous disease activity or neurologic symptoms.…”

“…Angiographic studies have demonstrated abnormalities in intracranial blood vessels in some cases, suggesting the possibility of a vasculitis or vasculopathy 103,104,108 . Rare case reports have described vascular ectasia 109 or a chronic inflammatory process on neuropathology 106,110‐112 . Still others suggest a disruption of neural crest migration as the underlying cause 113 .…”