Neerja Puri.
A study on clinical manifestations of tuberous sclerosis.
J Pak Assoc Derma Jan ;23(4):365-70.

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.

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