The facial findings over the malar area were angiofibromas (adenoma sebaceum
) in a typical butterfly pattern (Figure 1), periungual fibroma (Koenen's tumor) on the left big toe (Figure 2) and hypomelanocytic macules around the neck (ash leaf spot) which is typical of tuberous sclerosis.4
In the past, it was believed that the typical presentation included seizure, mental retardation, and facial angiofibroma (adenoma sebaceum
) (Vogt's Triad).
The lesions with characteristics of angiofibroma as pink-red papules, which were previously named adenoma sebaceum
, are localized on the face and observed in 75% of patients (8-10).
These include facial angiofibromas (Adenoma sebaceum
), subungual fibromas, Shagreen patches and cafe-au-lait spots.
One common cutaneous manifestation of TSC is adenoma sebaceum
, which usually develops at an age of 4-6 years and is located over the nose, cheeks, chin, and can include the forehead.
Dermatologically, patients may display hypopigmentation, cafe au lait macules, periungual fibromas, and adenoma sebaceum
. This patient had only adenoma se baceum, said Dr.
However the genes responsible for tuberous sclerosis may also lead to facial lesions (adenoma sebaceum
), white spots (hypopigmented macules) on the skin, lesions of the brain (cortical tubers and subependymal nodules), kidney and eye disease, and mental retardation.
The incidence of TS is variously reported as from 1 to 15 cases per 300,000.[1-7] Tuberous sclerosis was first described in 1862 by von Recklinghausen. In 1911, Sherlock coined the term epinoia (epi stemming from "epilepsy" and anoia from "mindless"). Bourneville, whose name is associated with the disease, coined the term tuberous sclerosis. Vogt is associated with the diagnostic triad of mental retardation, adenoma sebaceum
, and epilepsy. Tuberous sclerosis has traditionally been described as one of the phakomatoses or neurocutaneous syndromes.[4,8] The hallmark lesions are fibroangiomas, or tubers, that vary in size and location.
On examination, child had Adenoma Sebaceum
, Ash leaf macule (Fig.