Linear scleroderma en coup the sabre, progressive facial hemiatrophy and Rasmussen encephalitis : a single disease spectrum?

Results 9 patients presented with LSCS, followed in 5 of them by progressive hemifacial atrophy (PFH) within 2 years. 3 patients presented with PFH, all 3 had additional scleroderma lesions. Their median(range) age at presentation was 8(4-17)yrs. Extracutaneous manifestations were equally found in LSCS and PFH+LSCS patients. They comprised asymmetry of tooth arches/missing teeth(1), ophthalmologic problems (eyelid ptosis, enophtalmia, bilateral anterior uveitis and renal papillary asymmetry)(4), epileptic seizures with hyperintense signals on MRI and hypoperfusion on SPECT in 1 LSCS (fig) and 1 PFH patient, severe migraine attacks(2), polyarthritis(2), vitiligo(1), celiac disease(1). ANA were found in 3 LSCS, 2 PFH+LSCS patients. Distinct oligoclonal IgG bands were found in CSF (not in blood) in patients with PFH and seizures. A skin biopsy in a PFH lesion showed fibrosis associated with a lymphocytic infiltrate, IgM and IgG deposits. A brain biopsy in one PFH patient with epilepsy was consistent with Rasmussen encephalitis.