Linear Scleroderma en coup de sabre With Associated Neurologic Abnormalities

Abstract

Linear scleroderma represents a unique form of localized scleroderma that primarily affects the pediatric population, with 67% of patients diagnosed before 18 years of age. When linear scleroderma occurs on the head, it is referred to as linear scleroderma en coup de sabre, given the resemblance of the skin lesions to the stroke of a sabre. Here we describe 3 pediatric patients with linear scleroderma en coup de sabre who presented with neurologic abnormalities before or concurrent with the diagnosis of their skin disease. Our patients' cases highlight the underrecognized relationship between neurologic complications and linear scleroderma en coup de sabre and illustrate the importance of a thorough skin examination in patients with unexplained neurologic disease. S CLERODERMA IS A rare disease of unknown etiology in which increased collagen deposition occurs and results in dermal thickening. Involvement may be diffuse (systemic sclerosis) or localized to the skin (localized scleroderma). Linear scleroderma represents a unique form of localized scleroderma that primarily affects the pediatric population, with 67% of patients diagnosed before 18 years of age. 1 Linear scleroderma frequently occurs on the limbs but also may develop in the frontoparietal area of the forehead and scalp. When linear scleroderma occurs on the head, it is referred to as linear scleroderma en coup de sabre, given the resemblance of the skin lesions to the stroke of a sabre. Neurologic abnormalities have been described in association with linear scleroderma en coup de sabre. Typically, characteristic skin involvement is recognized before the development of neurologic disease. We describe 3 pediatric patients with linear scleroderma en coup de sabre who presented with neurologic abnormalities before or concurrent with the diagnosis of their skin disease. Their cases illustrate the variability in neurologic manifestations of linear scleroderma en coup de sabre as well as the importance of a careful skin examination in patients with unexplained neurologic disease. CASE REPORTS CASE 1.A 5-year-old girl presented with new-onset partial complex seizures and skin lesions. An epileptiform pattern in the left posterotemporal area was detected by electroencephalogram (EEG), and she was started on anticonvulsants. Imaging by computed tomography (CT) and MRI was normal. Enlargement of the skin lesions prompted a referral to dermatology, and examination revealed a linear, indurated plaque with alopecia extending from her left eyebrow into the hair-bearing scalp. Gray-brown atrophic plaques were also present on the midline of her scalp and on her neck extending from her left mandible to the anterior shoulder. A diagnosis of linear scleroderma en coup de sabre was made based on the characteristic skin changes observed. Her anti-single-stranded DNA level was slightly elevated at 159 /ml; her antinuclear antibodies (ANA), rheumatoid factor, complete blood count, anti-extractable nuclear antigens, and anti-double-stranded DNA levels were all withi...

Linear scleroderma ‘en coup de sabre’ with ptosis and oculomotility disorders: case report and review of the literature

“…Several published articles have looked at the ocular impact of this disease [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] but no reviewed papers have documented the natural progression of LS and 'en coup de sabre' for as long as in this case.…”

“…3 In 2007 a large study of 750 patients with localised juvenile scleroderma was reported. 4 It identified 24 patients with significant ocular involvement, including eyelid and eyelash abnormalities, ectropion, anterior uveitis, episcleritis, refractive error, pupil mydriasis and enophthalmos.…”

“…Neurological abnormalities were the presenting feature of a few paediatric patients with 'en coup de sabre' 3,[8][9][10] and their cases illustrate the variability in the neurological manifestation of this condition. In one such case 8 a child presented with a dilated pupil and mild ptosis.…”

Immunotherapies for Neurological Manifestations in the Context of Systemic Autoimmunity

“…More complex manifestations, such as cognitive dysfunction, headaches, myokymias, dystonia, and CNS vasculitis can occur, but mainly in the context of Parry Romberg syndrome (or hemifacial atrophy), which is considered a Bcoup de sabrev ariant [2,109]. Treatment remains empirical, and immunotherapy with steroids, cyclophosphamide, MTX, ciclosporin, IFN-γ, and Dpenicillamine is proposed by some studies but mainly for the treatment of aggressive skin and bone destruction (grade 3D) [107,110,111]. The effect of the abovementioned treatments in neurological involvement remains to be clarified.…”

Diagnosis and treatment of systemic and localized scleroderma

“…However, unlike most forms of localized scleroderma, which lack extracutaneous manifestations, a subset of linear scleroderma referred to as en coup de sabre has been associated with several neurologic abnormalities [55]. It characteristically involves the frontoparietal scalp and forehead.…”