Tuberous sclerosis is also known as epiloia. Epiloia is a term coined to encompass the diagnositic triad of tuberous sclerosis which includes epilepsy, low intelligence, and adenoma sebaceum.

Tuberous sclerosis initially presents with seizures.

Diagnostic criteria:

The major features of tuberous sclerosis include:

• facial angiofibromas or forehead plaque
• nontraumatic ungual or periungual fibromas
• 3 or more ash-leaf spots
• Shagreen patch
• multiple retinal nodular hamartomas
• cortical tubers
• subependymal giant-cell astrocytoma
• cardiac rhabdomyoma
• lymphoangiomatosis
• renal angiomyolipoma.

Minor features include:

• multiple randomly distributed pits in dental enamel
• hamartomatous rectal polyps
• bone cysts
• cerebral white matter radial migration lines
• gingival fibromas
• nonrenal hamartoma
• retinal achromic patch
• "confetti" hypopigmented macules
• multiple renal cysts

Tuberous sclerosis is diagnosed definitely with 2 major features, or 1 major feature and 2 minor features. If there is 1 major feature and 1 minor feature, it is probable tuberous sclerosis; and if there is only 1 major feature or >2 minor features, it is possible tuberous sclerosis

The common skin signs of tuberous sclerosis include ash-leaf spots, angiofibromas, Koenen's tumors, Shagreen patches, and fibromatous plaques on the forehead. The earliest skin signs are ash-leaf spots, which are hypomelanotic macules best seen with Wood's lamp examination. They are generally polygonal or ash-leaf in shape, range in size from 1-3 cm and number between 1-100. Occasionally, ash-leaf spots are accompanied by 1-3 mm hypopigmented, confetti-like macules scattered over the trunk and limbs.

Adenoma sebaceum is a misnomer for facial angiofibromas which appear at four to nine years of age and increase in size and number during puberty. They are 1-10 mm firm, discrete, reddish papules that initially present in the nasolabial folds and progress to the malar region, forehead and chin.

Koenen's tumors are subungual and periungual fibromas that develop after puberty and are firm, flesh-colored growths 5-10 mm long projecting from the nailfolds and beneath the nail plate.

A Shagreen patch is another feature that develops in later childhood or adolescence and presents as an irregularly thickened, slightly elevated, flesh-colored plaque consisting of collagen usually located over the lumbosacral area. Finally, firm, fibromatous plaques may develop over the forehead and can plague the gums and palate as well.

Differential diagnosis

Facial angiofibromas can be misdiagnosed as acne.

Treatment

The prognosis is variable and depends on the severity of the clinical manifestations. Children with tuberous sclerosis should be followed in multispecialty clinic, and infants with one or two hypopigmented macules should be evaluated on a yearly basis.