A study on clinical manifestations of tuberous sclerosis

Objective: To document clinical features in patients of tuberous sclerosis. Patients and methods: Twenty clinically diagnosed cases of tuberous sclerosis were assessed clinically for features of tuberous sclerosis. Results: Males outnumbered females and male: female ratio was 2.3:1. Adenoma sebaceum was the commonest (95%) cutaneous feature of tuberous sclerosis followed by ash leaf macule and shagreen patch each seen in 90% patients followed by Koenen’s tumour seen in 75% patients. Positive family history was seen in 25% patients. Regarding the clinical spectrum of tuberous sclerosis it was seen that epileptic fits and cardiac complications were seen in 50% patients each, eye abnormalities including retinal astrocytomas were seen in 40% patients, mental retardation was seen in 25% patients followed by astrocytomas and pulmonary disease seen in 20% patients each. Conclusion: Tuberous sclerosis can present with diverse cutaneous and systemic manifestations. Dermatologist may assist in early diagnosis of this multisystem genodermatosis.