Abstract
Tuberous sclerosis complex is a common neurocutaneous disorder that predominantly affects the brain, skin, eyes, heart and kidneys. The management of tuberous sclerosis complex has been revolutionised with vigabatrin for spasms and everolimus for angiomyolipomas and seizures. We describe a 10-year-old girl with generalised tonic-clonic seizures whose diagnosis of tuberous sclerosis complex was made in view of the presence of a forehead plaque. Certain clinical pointers such as ashleaf macules, café-au-lait spots, shagreen patches and forehead plaques must therefore be looked for in a child with unprovoked seizures.
Case
A 10-year-old girl presented with mild intellectual disability and infrequent unprovoked generalised tonic-clonic seizures noted for the last three years. They were relatively well controlled with a single anti-epileptic drug. The family history was unremarkable. Examination revealed a normal head size for age (52 cm), and a reddish-brown firm plaque with a few hypopigmented macules surrounding the plaque (ash leaf macules) on her forehead (Figure 1). Systemic examination was unremarkable. A brain MRI scan was suggestive of cortical tubers and multiple subependymal nodules (Figure 2). Echocardiography and renal ultrasound were unremarkable. A definitive diagnosis of tuberous sclerosis (TS) was established on the basis of these major diagnostic criteria.
Skin findings in the index child. Note the fibrous cephalic plaque (black arrow) and ash leaf macules (arrowhead) on forehead. Brain MRI of the index child. Axial T2-weighted (a) and T2 FLAIR (b) images section showing subependymal nodules (black arrow) and hyperintense cortical tubers (white arrows).
Careful dermatological examination is essential in children with epilepsy owing to its diagnostic and prognostic significance. 1 TS is an autosomal dominant, neuro-cutaneous disorder involving TSC1 (hamartin) and TSC2 (tuberin) genes. The diagnosis can be established either genetically or by using recommended diagnostic criteria. 1 Dermatological manifestations are seen in >96% of cases, with hypomelanotic “ash leaf” macules being the commonest, followed by facial angiofibromas (adenoma sebaceum), shagreen patches and ungual fibromas. 2 Over the last few decades, a few other cutaneous manifestations such as fibrous plaques, and folliculocystic collagenous hamartoma have been described.2,3 Fibrous plaques are seen in 25% of cases, and represent a larger variant of angiofibroma, both histologically and morphologically. They are raised, tan to yellow-brown in colour, and usually located in forehead or scalp. Although the majority are <5 cm in size, they can grow substantially larger creating diagnostic dilemmas especially in the absence of other characteristic skin abnormalities. 4 Therapy for disfiguring plaques includes surgical excision, laser ablation and application of topical mTOR inhibitors.
Supplemental Material
sj-pdf-1-tdo-10.1177_0049475520972523 - Supplemental material for Forehead plaque in a child with epilepsy: A clue for tuberous sclerosis
Supplemental material, sj-pdf-1-tdo-10.1177_0049475520972523 for Forehead plaque in a child with epilepsy: A clue for tuberous sclerosis by Bhanudeep Singanamalla, Chandana Bhagwat, Priyanka Madaan, Lokesh Saini and Dipankar De in Tropical Doctor
Footnotes
Author Contributions
BS, CB and PM prepared the initial draft of manuscript and reviewed the literature. LS and DD: critical review of the manuscript and reviewed the literature, edited the final version of manuscript. All the authors approved the final version of manuscript.
Declaration of conflicting interests
The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding
The author(s) received no financial support for the research, authorship, and/or publication of this article.
References
Supplementary Material
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