Devastating neurologic consequences of localized scleroderma en coup de sabre of the scalp—2 case studies

Background: En coup de sabre (ECDS) is a rare variant of localized scleroderma which can be associated with neurologic symptoms including seizures, focal neurologic deficit, and movement disorders. Little is known about the disease course in ECDS. We describe two patients with a history of localized scleroderma ECDS of the scalp who developed worsening neurologic symptoms coincidental in timing with extension of preexisting skin and skull lesions and evidence of inflammatory pathology on brain biopsy. Case Report: Our first patient was diagnosed with localized scleroderma ECDS at the age of 12. He re-presented at age 34 with progression of his skin lesions, new indentation of the occipital bones, and new neurologic symptoms of ataxia, cranial nerve IV palsy, and cognitive decline. MRI brain revealed multiple lesions that were hyperintense on T2-weighted images, the largest of which was in the left temporal lobe. Brain biopsy pathology was consistent with a lymphocytic inflammatory process. He was treated with pulse steroids and mycophenolate with stabilization of his symptoms and brain lesions on imaging. Our second patient was initially diagnosed with localized scleroderma ECDS at age 46. Concurrently, neuroimaging showed right frontal and temporal lesions that were hyperintense on T2-weighted images in the context of neurologic symptoms of vertigo and headache. At age 50, he developed worsening of existing skin lesions followed by new generalized tonic-clonic seizures and behavioral changes. MRI brain revealed worsening of his brain lesions, and ultimately brain biopsy confirmed focal perivascular lymphocytic reaction consistent with immune-mediated vasculitis. He was treated with pulse steroids and cyclophosphamide with improvement in his symptoms. Conclusion: Neurologic symptoms associated with localized scleroderma are a rare but well-documented association. These cases highlight the need to consider diffuse intracranial inflammatory pathology, rather than simply localized brain lesions, in ECDS, particularly in instances where skin lesions are progressive.