Lady with seizure and skin lesions

Abstract

A 35-year-old Indian lady, born out of non-consanguineous parentage, presented with multiple asymptomatic bumps over face and fingers. The facial lesions had started appearing since 2 years of age and finger lesions were first noticed during her adolescence. She had been on anti-epileptic medication for recurrent episodes of seizures since last 15 years. Her family history was insignificant. Examination revealed multiple non-tender, discrete, yellowish-brown to skin-coloured, soft-to-firm papules (1 to 3 mm) distributed symmetrically over centrofacial region. Multiple firm, non-tender, skin-coloured nodules over proximal nail fold along with longitudinal nail grooving were noted (Panel A, red arrow). A small firm skin-coloured plaque (Panel B, red arrow) and a leaf-shaped hypopigmented macule (Panel B, black arrow) were observed over thigh. Oral examination revealed a non-tender soft-to-firm papule over upper gingival (Panel A, black arrow). Systemic examination was insignificant. Routine blood investigations, echocardiography, ultrasonography of abdomen and fundoscopy of eyes failed to reveal any abnormality. Magnetic resonance imaging of the brain revealed cortical tubers and calcified subependymal nodules.