Linear scleroderma en coup de sabre – two case reports with inflammatory CNS lesions

Linear scleroderma is an autoimmune disease characterized by fibrosis of the skin. En coup de sabre denotes linear involvement of the facial skin. We describe the cases of two of these patients with intracerebral inflammatory lesions.

Patient 1 is a 4-year-old girl presenting with fever, unusual tiredness, and progressive gait disturbance. The MRI of her brain revealed bilateral multifocal T2/FLAIR lesions with gadolinium enhancement, liquor examination showed oligoclonal bands, and a mild pleocytosis (5 cells/µL). She was diagnosed with acute disseminated encephalomyelitis (ADEM). A small skin lesion at the right corner of her mouth was rated as an atopic eczema. Six month later, a second MRI of her brain revealed new T2/FLAIR lesions without gadolinium enhancement, whereas the facial skin lesion had extended and was rated as en coup de sabre. Therefore, the diagnosis was changed into linear scleroderma. Today, at the age of 6 years, her course of disease has been stable without neurologic symptoms and no further MRI-lesions. An immunomodulatory therapy has not been started yet.

Patient 2 is a 7-year-old boy presenting with a complex focal seizure. The MRI showed several T2/FLAIR lesions with gadolinium enhancement in the left hemisphere of his brain, liquor examination showed oligoclonal bands and a pleocytosis (20 cells/µL). Careful examination of his head revealed a typical en coup de sabre lesion at the left parietal skin. His course of disease exacerbated (right-sided hemiparesis, impairment of intelligence, and increase in the number of lesions in the MRI) and a methylprednisolone pulse therapy was started. Today, the patient is 15 years old and his medical condition is stable with a mycophenolate mofetil-therapy.

Conclusion: Linear scleroderma en coup de sabre with CNS-involvement is an important differential diagnosis of ADEM and multiple sclerosis in childhood, especially since prognosis and therapy are different. The 2 cases also demonstrate, that a careful skin-examination of children with inflammatory diseases of the CNS in necessary.