Article Text
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Description
A 63-year-old woman presented with two smooth, firm, flesh-coloured lumps protruding from the nail folds of her left third and fifth toes (figures 1 and 2). She had a background of epilepsy but had never previously undergone neuroimaging. Periungual fibromas are an important sign of tuberous sclerosis complex, an autosomal dominant multisystem disorder characterised by hamartomas in multiple organs, including skin, brain, eyes, kidney and heart. Skin lesions are found in approximately two-thirds of cases, and also include facial angiofibromas (‘adenoma sebaceum’), the shagreen patch and ash leaf-shaped white macules. This patient had a definitive diagnosis of tuberous sclerosis made after a CT brain scan demonstrated subependymal nodules. Despite advances in neuroimaging, it is still important to perform a general examination of the skin, particularly the feet and hands, in any patient presenting with seizures.
Learning points
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Periungual fibromas are more commonly found on the feet than the hands.
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Think of tuberous sclerosis in a patient with epilepsy and cutaneous lesions.
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Always perform a general examination of the skin, particularly the hands and feet, of any patient presenting with seizures.
Footnotes
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Contributors AT wrote the majority of the text component of the case, with supervision from RJ. RJ liased with the patient, organised consent, clinical photographs and edited the final text for submission. SAH highlighted this patient as an interesting case.
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Competing interests None.
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Patient consent Obtained.
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Provenance and peer review Not commissioned; externally peer reviewed.