A 20-Year-Old Woman With Nail Abnormalities and Vomiting

Sumaira Nabi, MBBS; Shahzad Ahmed, MBBS; Mazhar Badshah, MBBS


June 06, 2019

The diagnosis of TS is based on clinical evaluation, laboratory findings, and genetic test results. A thorough history of symptoms associated with TS should be elicited. A detailed family history is important. Obtaining a three-generation family history is recommended by international guidelines.[13] A detailed and careful physical examination should be performed, with skin and neurologic systems thoroughly examined. Characteristic dermatologic manifestations of TS should be assessed, including ash-leaf macules, facial fibroadenomas, shagreen patches, and periungual fibromas.

Meticulous neurologic examination and ophthalmic evaluation should be done. MRI of the brain should be performed to detect cortical tubers, subependymal nodules, SEGAs, or cerebral white-matter changes. EEG should be obtained in patients with TS who have epilepsy. Ultrasonography and CT of the abdomen are recommended to screen for renal angiomyolipomas or cysts. Echocardiography, CT of the chest, and bone radiography may be performed, depending on the history and physical examination findings.

In 2012, criteria for the diagnosis of TS were published by the International Tuberous Sclerosis Complex Consensus Conference.[13] These include 11 major and six minor features.

Major features include the following:

  • Hypomelanotic macules (three or more, at least 5 mm in diameter)

  • Angiofibromas (three or more) or fibrous cephalic plaque

  • Ungual fibromas (two or more)

  • Shagreen patches

  • Multiple retinal hamartomas

  • Cortical dysplasias

  • Subependymal nodules

  • SEGA

  • Cardiac rhabdomyoma

  • LAM

  • Angiomyolipomas (two)

Minor features include the following:

  • "Confetti" skin lesions

  • Dental enamel pits (more than three)

  • Intraoral fibromas (two or more)

  • Retinal achromic patches

  • Multiple renal cysts

  • Nonrenal hamartomas

The presence of two major features, or one major feature with two minor features, is considered a definitive diagnosis. Possible diagnosis includes either one major feature or two minor features.

The classic Vogt triad of seizures, mental retardation, and adenoma sebaceum has become obsolete. Many patients have normal intellect. Molecular genetic testing for gene mutations may be required, although the clinical signature is generally vivid enough for confirmation of the diagnosis. In some patients with TS, no mutation is present on molecular genetic testing.


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