A biopsy taken this patient's chin lesion revealed large vascular spaces with fibrous-stroma consistent with
adenoma sebaceum. A CT scan revealed cortical calcifications consistent with calcified tubers.
Adenoma sebaceum, pathognomonic lesions, begin to be visible from age 2 to 6 years and occur in more than 50% of patients.
In family history, father had seizure episodes and
Adenoma Sebaceum (Fig.
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.
(2) Sherlock (3) coined the name 'epiloia', the diagnostic triad composed of epilepsy, low intelligence and
adenoma sebaceum.
In addition to this,
adenoma sebaceum, hypomelanoticpatches("ash leaf spots") and shagreen patches [Fig.1] were detected on her physical examination.
Clinical diagnosis is easy when the patient presents with classical triad of seizures, mental retardation and
adenoma sebaceum. However, in a patient presenting with an incomplete form of tuberous sclerosis, mistakes in the diagnosis are possible.