This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The characteristic clinical features of tuberous sclerosis are:

  • mental retardation and epilepsy, particularly infantile spasms
  • numerous pink or red-brown papules on the face, mostly the nose and nasolabial folds - referred to as adenoma sebaceum but rigorously are hamartomas of connective tissue and small blood vessels with only passive involvement of sebaceous glands; usually appear at between 5 to 10 years

Other common features:

  • irregularly coarsened skin over the sacrum - shagreen patch - a connective tissue naevus
  • periungal - nail fold - fibromas; usually at puberty
  • oval hypopigmented macules - ash leaf macules - best seen with Wood's (UV) light; often present at birth and the earliest cutaneous indication; in 85% of cases
  • retinal phakomata - in 50% of cases
  • cardiac rhabdomyoma - in 50% of cases
  • pulmonary and renal hamartomas
  • cysts of pleura and lungs, bone cysts in digits
  • on CT scan, periventricular hamartomas and intracranial calcification

Less frequently seen are:

  • gingival fibromas
  • cafe au lait spots
  • port wine haemangiomas
  • malignant brain tumours

Related pages

Create an account to add page annotations

Create a free account

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.