Autosomal dominant syndrome with variable expressivity.
Manifested by hamartomatous tumors in multiple organs, including brain (causing seizures), eyes, heart, kidneys, lungs, and skin.
Skin lesions occur in nearly all individuals and are important for diagnosis.
Skin lesions include hypomelanotic macules, “confetti” lesions, facial angiofibromas, fibrous cephalic plaques, shagreen patches, and ungual fibromas.
Hypomelanotic macules appear at birth or shortly thereafter and are most useful in early diagnosis.
Although the skin lesions are benign, they may require treatment because of symptoms or disfigurement.
Skin lesions can be treated with surgery or topical sirolimus.
Tuberous sclerosis complex (TSC) is a genetic disease caused by mutations in a tumor-suppressor gene, either TSC1 or TSC2, which affects multiple organs, typically the brain, heart, kidneys, lungs, and skin.1 TSC commonly presents with seizures during infancy but some individuals remain undiagnosed until adulthood.2 Most individuals will experience difficulties related to a wide range of cognitive, behavioral, and psychiatric disorders encompassed by the umbrella term TSC-associated neuropsychiatric disorders (TAND).3 Skin lesions adversely affect quality of life4 and dermatologists are frequently called upon to diagnose or treat the skin manifestations of TSC.
The incidence of TSC is as high as 1 in 6000 live births with a prevalence of approximately 1 in 25,000.5,6 It occurs with equal frequency in males and females and in different races and ethnicities. Hereditary transmission is evident in approximately one-third of patients. Sporadic disease occurs in about two-thirds of patients, caused by de novo mutations.7
Individuals with TSC may develop multiple different types of skin findings, including hypomelanotic macules, facial angiofibromas, fibrous cephalic plaques, shagreen patches, and ungual fibromas.8 Some skin findings, such as hypomelanotic macules, may appear at birth, whereas others, such as ungual fibromas, may not appear until adulthood. Most individuals eventually manifest at least 1 skin finding, but there is variability in severity between individuals.9 The ability to recognize TSC-related skin findings is important for diagnosis as skin lesions constitute several of the major and minor features for clinical diagnosis (see section “Diagnosis”).10,11
Hypomelanotic macules (Fig. 136-1) are observed in more than 90% of children with TSC.12,13 The macules are often present at birth or appear within the first few years of life and may fade or disappear in adulthood.9 The ultraviolet light of a Wood lamp may improve detection, especially in lightly pigmented individuals (Fig. 136-2).8
Hypomelanotic ash-leaf macules on the lower leg of a child with tuberous sclerosis complex.
A, Hypomelanotic macules on the lateral chest of an ...