Epilepsy and skin anomalies in tuberous sclerosis complex: Report of five cases and review of the sub-Saharan African literature

Abstract

Tuberous sclerosis complex (TSC) is a multi-organ disease characterized by hamartomatous involvement of several organs notably the brain, skin, eye, kidneys, heart and lungs. This rare disorder (incidence is estimated between 1/5,800 and 1/10,000 births) results from mutation of the TSC1 gene on chromosome 9q34 or from mutation of the TSC2 gene on chromosome 16q13. In 80% of cases, it is a consequence of a de novo mutation while in the remaining cases its transmission follows an autosomal dominant pattern. Epilepsy is the main neurological complication associated with TSC, with 80 to 90% of patients having epilepsy in their lifetime while skin anomalies are seen in 60 to 70% of cases. There have been few reports on TSC from sub-Saharan Africa and to the best of our knowledge none has focused specifically on neurological complications mainly epilepsy and specificities of skin abnormalities in the sub-Saharan black Africans. Five cases of TSC with characteristics skin lesions and drug resistant epilepsy are reported. Children presenting with epilepsy, especially focal epilepsy should have a careful dermatological examination. Similarly, all suspected cutaneous lesions must be evaluated with imaging study for the detection of signs of TSC. An earlier management of epilepsy may prevent cognitive impairment associated with frequent epileptic seizures.