Presentation
Presentation and diagnosis of tuberous sclerosis complex in infants. Pediatrics. 2017;140:e20164040. doi: 10.1542/peds.2016-4040. [ Links ] 26. [scielo.org.mx]
Entire Body System
Skin
- Freckles
In most cases, the skin is affected, causing symptoms such as: birthmarks known as café au lait spots, which are light or dark brown patches that can be anywhere on the body soft, non-cancerous tumours on or under the skin (neurofibromas) clusters of freckles [nhs.uk]
An update on neurofibromatosis type 1: Not just café-au-lait spots, freckling, and neurofibromas. An up-date. part I. Dermatological clinical criteria diagnostic of the disease. Actas Dermosifiliogr. 2016;107:454-64. [ Links ] 21. [scielo.org.mx]
Treatment
Treatment involves regular monitoring and treating any problems as they occur. [nhs.uk]
Diagnosis and treatment of tuberous sclerosis manifestations in children: A multicenter study. Neuropediatrics. 2018;49:193-9. [ Links ] 25. Davis PE, Filip-Dhima R, Sideridis G, Peters JM, Au KS, Northrup H, et al. [scielo.org.mx]
Epidemiology
Ignacio; Broeke, Sanne ten; Nielsen, Maartje; Ljungmann, Ken; Nakken, Sigve; Lindor, Noralane; Frayling, Ian; Hovig, Eivind; Sunde, Lone; Kloor, Matthias; Mecklin, Jukka-Pekka; Kalager, Mette; Møller, Pål (BioMed Central Ltd., 2019) Background Recent epidemiological [jyx.jyu.fi]
Prevention
This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time. Find out more about the NCARDRS Page last reviewed: 11 August 2021 Next review due: 11 August 2024 [nhs.uk]