Extracutaneous Lesions in Patients with Focal Scleroderma of Craniofacial Localization: a Retrospective Cross-Sectional Study

Background. Focal scleroderma is rare, acquired disease characterized by inflammation, sclerosis, skin and underlying tissues atrophy, with no lesions to internal organs. However, craniofacial localized scleroderma (CLS) can lead to neurological, ophthalmic, and maxillofacial changes. Extracutaneous lesions at limited scleroderma remain poorly studied despite its high prevalence. Objective. The aim of the study is to characterize brain anomalies revealed at neuroimaging and to analyze their incidence in pediatric patients with focal scleroderma, as well as to describe comorbid neurological and ophthalmic disorders. Methods. Descriptive retrospective cross-sectional study included 33 pediatric patients who underwent hospital treatment at dermatology and allergology department of National Medical Research Center of Children’s Health with diagnosis of focal scleroderma from 2016 to 2024. All patients were examined by neurologist and ophthalmologist during hospitalization, as well as magnetic resonance imaging (MRI) was performed. The incidence of neurological, ophthalmic, and radiological signs was evaluated in the studied patients as well as their correlations within the data analysis. Results. 33 pediatric patients from 3 to 17 years old were studied. The number of boys and girls was not significantly different (p=0.46). MRI neuroimaging changes were revealed in 17 of 33 patients (51.5%). 12 patients (36.4%) had isolated disorders, 5 (15.1%) — multiple (two or more types) according to MRI data. Neurological disorders were reported in 8 out of 33 patients (24%). Ophthalmic disorders — in 10 out of 33 (30.3%). The study has revealed correlation indicating that the presence of epilepsy in CLS is associated with changes in the brain structure according to MRI (hyperintensive signal at T2-weighted image and FLAIR) (p=0,022). Also, such changes as hypointense signal during T2-VI are correlated with tension headache (p=0.03). No correlation between ophthalmic changes and neuroimaging changes was revealed. Conclusion. Significant number of pediatric patients with CLS have wide range of ophthalmic and neurological manifestations, including neuroimaging abnormalities. Precise and timely diagnosis of these symptoms is crucial for determining treatment intervention.

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