Which physical findings are characteristic of tuberous sclerosis complex (TSC)?

Updated: Aug 21, 2018
  • Author: David Neal Franz, MD; Chief Editor: Amy Kao, MD  more...
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Answer

Findings in TSC include the following:

  • Neurologic findings: Abnormal neurologic findings result from the location, size, and growth of tubers and the presence of subependymal nodules (SENs) and subependymal giant cell astrocytomas (SEGAs)

  • Cutaneous findings: The best-known cutaneous manifestation of TSC is adenoma sebaceum, which often does not appear until late childhood or early adolescence

  • Cardiac findings: Cardiac involvement is usually maximal at birth or early in life; it may be the presenting sign of TSC, particularly in early infancy; 50-60% of individuals with TSC have evidence of cardiac disease, mostly rhabdomyomas.

  • Ophthalmic findings: At least 50% of patients have ocular abnormalities; some studies have reported a prevalence as high as 80%; these lesions are actually retinal astrocytomas that tend to become calcified over time

  • Pulmonary findings: Prospective and retrospective studies have found cystic pulmonary abnormalities in as many as 40% of women with TSC

  • Renal findings: Renal manifestations of TSC are the second most common clinical feature; 4 types of lesions can occur: autosomal dominant polycystic kidney disease lesions, isolated renal cyst(s), angiomyolipomas (AMLs), and renal cell carcinomas

  • Dental findings: Pitting of the dental enamel is invariably present in the permanent teeth of patients with TSC [1] ; gingival fibromas occur in 70% of adults with TSC, in 50% of children with mixed dentition (primary and permanent teeth), and in 3% of children with only primary teeth

  • Gastrointestinal findings: Hamartomas and polyposis of the stomach, intestine, and colon may occur

  • Hepatic findings: Hepatic cysts and hepatic AMLs, typically asymptomatic and nonprogressive, have been reported in as many as 24% of patients with TSC, with a marked female predominance (female-to-male ratio 5:1)

  • Skeletal findings: Sclerotic and hypertrophic lesions of bone may be found incidentally on radiography performed for other indications

See Clinical Presentation for more detail.


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