INFORMATION ON TS THE SKIN

MANIFESTATIONS

The skin manifestations of Tuberous Sclerosis Complex play a major role in establishing the correct diagnosis. Skin lesions include hypomelanotic macules, the shagreen patch, periungual or subungual fibromas, and facial angiofibromas. Fibrous plaques are a less common finding in patients with TSC, but they are probably in themselves diagnostic and may be seen in newborns as a solitary flat, slightly elevated, reddish-orange patch on the forehead, the upper eyelid or the face. There may also be fibrous, hairless scalp plaques often surrounded by thin, white tufts of hair.

DIAGNOSTIC SCREENING AND FOLLOW-UP

At the initial testing, a Wood's lamp should be used to better visualize the hypomelanotic macules. These white patches are often difficult to see in infants and individuals with pale skin, so the Wood's lamp enhances the chances of seeing these lesions. The entire body should be examined since the macules can occur anywhere. The skin should be carefully examined for the other skin manifestations of TSC. Some of the skin signs may not be present at birth; the facial angiofibromas do not usually occur until pre-school. The physician should examine the patient carefully, and ask the patients and their families to note later skin signs to be aware of so that their appearance can be properly noted in the medical records.

TREATMENT

Treatments are available for facial angiofibromas and the peri- and subungual fibromas.   Cases of facial angiofibromas range from mild discomfort to sometimes severely disfiguring, may become infected, and may bleed spontaneously or when irritated by reading glasses, or when a male reaches puberty and he has difficulty shaving.  Combined C02 and vascular laser treatments are effective techniques that are less likely to leave scars and less painful than previous techniques such as dermabrasion or surgical removal.  The physician should discuss the pros and cons of each method, and then the most appropriate treatment should be selected for that particular patient.