Table 4

Skin manifestations in tuberous sclerosis*

ManifestationDescription
Embedded Image Hypomelanocytic macules (ash-leaf macules): The most common skin sign, found in up to 90% of patients. They are usually present at birth but are often difficult to see in newborns. No specific therapy needed, except sun block.
Embedded Image Facial angiofibromas (‘adenoma sebaceum’): Found in 75% of patients. Usually appear between 3 and 10 years of age. They appear in adolescence as small red papules in the malar area with a butterfly distribution. They can bleed and cause anxiety over cosmetic appearance. Amenable to laser therapy in children who can lie still.
Embedded ImageShagreen patches: Irregularly shaped and thickened, slightly elevated, soft, skin-coloured plaque, usually on the lower back. Found in approximately 50% of patients, but may be unapparent in young children. May cause anxiety, but they do not cause any problems other than cosmetic concerns.
Embedded Image Ungual fibromas: Outgrowths that arise adjacent to or from underneath the nails. Seen in 15%–20% of patients with TSC and appear at or after puberty. More common in toes than fingers. They can bleed and cause anxiety over cosmetic appearance.
  • We would like to thank the Massachusetts General Hospital and Access Medicine, California for the pictures in table 4.

  • TSC, tuberous sclerosis complex.