Linear scleroderma en coup the sabre, progressive facial hemiatrophy and Rasmussen encephalitis : a single disease spectrum?
KeywordsMigraine Celiac Disease Vitiligo Anterior Uveitis Rasmussen Encephalitis
Progressive hemifacial atrophy (PFH) and linear scleroderma en coup de sabre (LSCS) may be accompanied by neurologic symptoms and other extra-cutaneous manifestations.
To investigate and compare clinical/immune characteristics of patients with LSCS and PFH.
Retrospective study of 12 patients presenting at 2 pediatric dermatology clinics with linear scleroderma and/or hemifacial atrophy
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.
In patients with severe skin +- neurological lesions, treatment with steroids/high-dose MTX resulted in improvement/stabilization of clinical and MRI abnormalities
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