Clinical Features Of Linear Scleroderma Of The Face And Head With Epilepsy And Literature Review

BackgroundScleroderma is an chronic connective tissue disease tissue characterized by collagen fibrillation degeneration and it may have multiple organs and multiple organ involvement.The pathogenesis of scleroderma is not yet fully clear,the mainstream theory are immunology theory,collagen abnormal generation theory and vascular injury theory.Scleroderma is divided into System Scleroderma(SSc)and Localized Scleroderma(LoS).SSc often occurs in female with the ratio of about 3:1 to male,the pathogenesis based on the production of autoantibodies,microvascular disease,fibroblastic dysfunction caused by increased collagen synthesis.When the digestive system,circulatory system,urinary system,bone and joints are involved,it can cause clinical manifestations such as dysphagia,pulmonary hypertension,kidney disease and joint deformity.If the peripheral nerve and autonomic nerve were involved,it may cause peripheral circulation bad,abnormal feeling and other clinical symptoms or signs,such as Renault phenomenon,but the central nervous system damage is rare.Localized Scleroderma(LoS),also known as morphea,is characterized by involvement of the skin or subcutaneous tissue without invading the internal organs and the incidence rate is about 0.3-3/105.The course of disease is benign and self-limited.LoS is the most common type of scleroderma in children.Linear Scleroderma(LS)is a subtype of LoS,occurring in children and adolescents,and 40%-70% of children LoS is LS.It is characterized by unilateral linear or band-like skin and subcutaneous tissue atrophy and sclerosis.It is common in limbs,the muscles,bones or joints under the lesions can be involved,and the cross-joint damage can effect it's function.Linear scleroderma en coup de sabre(LSCS)is a special subtype of LS,lesions from the eyebrows extended to the scalp,generally do not cross the forehead midline,involving the hair area can occur scarring alopecia.It was considered that LoS has no other tissue involvement except skin.However,recent domestic and foreign scholars found that although it's rare in clinic,LoS patients may have other clinical symptoms except skin involvement,including the most common involvement of joints,followed by the nervous system injury.Epilepsy is the most common symptom of nervous system damage,especially in patients with LSCS.LSCS patients associated with epilepsy have worse disease improvement and prognosis than patients only with skin symptoms,and have difficulty in treatment,and they always have a lower quality of life.ObjectiveTo explore the clinical features,pathogenesis and prognosis of patients with epilepsy associated with craniocerebral scleroderma,it may be helpful to judge the presence or absence of nerve damage in order to improve the prognosis.MethodsClinical data,laboratory tests,imaging studies,neurological manifestations and treatment programs of cases treated in our hospital and published both in domestic and abroad were induced and analyzed.Results1.Basic informationA total of 14 cases were included in the case,10 males and 4 females,of which 1 case from our hospital,13 cases of literature cases.12 cases of head and face LS associated with epilepsy patients are with epilepsy after scleroderma,only 2 patients are with epilepsy before the occurrence of scleroderma.4 years old-45 years old can be affected,the average age of the patients is 24.5 year-old,which have 7 minor(age <18 years)patients and 7 adult(age ?18 years)patients.Sclerosis course ranges from 6 months to 42 years,while epilepsy course ranges from 2 days to 36 years.2.Clinical manifestations of LS12 cases of skin lesions mainly involving the forehead,of which 9 cases(9/14)distributed in the forehead on the left,3 cases(3/14)in the forehead on the right.One patient is(1/14)unilateral facial involved and another patient has the ipsilateral lower limb involved except the forehead lesion.In this study,4 cases(4/14)lesions occur from the forehead across the eyebrows down to the back of the nose or even the upper lip,5cases(5/14)are accompanied by patchy alopecia,7 cases(7/14)have significant pigmentation on the lesion,3 cases(3/14)are accompanied by varying degrees of contralateral facial contraction,2 cases' lesions developed after a trauma.14 patients all have no Reynolds phenomenon and internal organs involved.3.Manifestations of epilepsy8 patients(8/14)are with epilepsy complicated partial seizures,5cases are changed from epilepsia mitior into epilepsia gravior,and another one case occur systemic tonic spasm after frequent recurrent migraine headache.4.Imaging,electrophysiology and laboratory examinationA total of 9 patients underwent head CT examination,of which 5 cases(5/9)showed lesions of the same side of the brain parenchymal calcification,3 cases(3/9)appeared skull thinning and atrophy below the skin,another one has no abnormal signs.12 patients underwent head MRI,of which 6 cases(6/12)showed intracranial high signal injury,5 cases showed cerebral atrophy(5/12),3 cases(3/12)showed ventricular enlargement,4 cases(4 / 12)showed gray-white matter boundaries blurred in brain parenchymal involvement area.7 patients underwent EEG examination,mostly showed spike waves or slow waves.Only 1 patient with autoantibodies and RF positive.5.TreatmentEpilepsy was mainly treated with antiepileptic drugs,2 cases(2/14)were given hormone combined with methotrexate,2 patients cut off epilepsy lesion,the other patients were given antiepileptic drug treatment with more than two kinds of antiepileptic drugs joint application.Conclusion1.Head and face linear scleroderma patients with epilepsy are often occur skin lesions before epilepsy,suggesting that inflammatory mechanism of scleroderma play a role in the process of epilepsy.2.Head and face linear scleroderma patients associated with epilepsy may have no positive signs of radiological examination,but they should be followed-up.