Genetics of Tuberous Sclerosis Differential Diagnoses

Updated: Sep 02, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Diagnostic Considerations

The following should be considered:

  • Autism

  • Cardiac arrhythmia

  • Epilepsy

  • Infantile spasms

  • Other causes of mental retardation

Hypomelanotic macules of tuberous sclerosis complex (TSC) must be distinguished from vitiligo, which may reflect a systemic process that includes other autoimmune diseases and ocular and neurological abnormalities. [39] In particular, Alezzandrini syndrome and Vogt-Koyanagi-Harada syndrome exemplify this relationship. In addition, the macules of tuberous sclerosis occasionally require distinction from progressive systemic sclerosis (scleroderma), and, in endemic regions, leprosy.

The multiple oral papules in tuberous sclerosis complex may be similar to those in Cowden syndrome, Birt-Hogg-Dube syndrome, and multiple endocrine neoplasia type 1. [7]

Neuroendocrine tumors of the pancreas have been described in only 9 TSC cases. [40] However, there may be a common molecular pathway between these 2 entities.

Differential Diagnoses