TSC and facial angiofibromas
Contents TSC and facial angiofibromas P3 What are facial angiofibromas (skin lesions/growths)? P4 Treatment Laser treatment Treatment using creams and ointments P8 Information and support P10 Contact us P2
What are facial angiofibromas (skin lesions / growths)? Angiofibromas are overgrowths of skin. They are usually scattered on the nose and cheeks. Sometimes they can be present on the forehead, eyelids, and chin. They can be the same colour as the person s natural skin colour, but can also appear as a different colour (such as pink, red or brown). In childhood, angiofibromas may appear as a redness of the cheeks. The redness is due to an increase in the blood vessels of the skin. Angiofibromas may appear as early as the first year of life, but usually begin to appear when the child is about five years old. Angiofibromas may increase in number and become more noticeable at puberty. As a person gets older, angiofibromas may become raised. This is due to the growth of fibrous tissue (similar to that found in a scar) in the affected area of the skin. They are associated with flushing of the face, which is worse when the affected person is hot or emotional. P3
Treatment Angiofibromas have nothing to do with acne and do not respond to treatments for acne. Prevention: The most important first step is prevention. Exposure to UV light causes at least half the new spots to appear and using sun sceen will prevent this. It is important to use sun screen even on cloudy days. There are several treatment options to remove facial angiofibromas. Removal may be considered if the angiofibromas are causing problems (cosmetic, psychological or physical) or in order to prevent problems arising. Such problems include: Bleeding: Angiofibromas contain lots of tiny blood vessels. Because of this it is may be difficult to prevent bleeding and to stop bleeding once it has started. This can be a particular problem for young men when they start to shave. If damaged, angiofibromas and the affected skin area are more likely become infected. Vision: Angiofibromas on the eyelids may become so large that they obstruct a person s vision. They may bleed into the eye if rubbed or damaged. Angiofibromas on the nose may become enlarged and cause problems for those wearing glasses. Psychological: Living with facial angiofibromas can affect a person s emotional and social wellbeing. It can be difficult to cope with the reactions and comments that may come from other people. P4
Even if they are successfully removed, angiofibromas may grow back with time. The rate at which they return differs from one person to another. For some people, one procedure to remove or reduce angiofibromas is sufficient and they do not return. However, many affected individuals will need to have them removed several times over the course of their life. Protecting the skin from the sun These actions may help to reduce the frequency and severity of facial angiofibromas: Avoid exposure to direct sunlight and stay in the shade, particularly between 10am and 2pm. Wear clothing that blocks sunlight and covers skin, including a wide-brim hat. Apply generous amounts of a broad-spectrum (protecting against UVA and UVB rays), water-resistant sunscreen with SPF 30 or higher to sun-exposed areas. Do not use tanning beds Treatment options to remove facial angiofibromas Surgical excision (removal): removal of the angiofibromas using a local anaesthetic and a scalpel. Dermabrasion: A type of surgery that involves the abrasion (wearing away) of the upper layers of the skin. Cryosurgery: An extremely cold substance, such as liquid nitrogen, applied to the angiofibromas in order to freeze and get rid of them. P5
These methods have been in use for many years. Removal is quick, but the scarring and changes in pigmentation that may result can be permanent. Laser treatment One of the advantages of laser surgery is that it can be used even at the early stages of their growth. It has been shown that facial angiofibromas removed early in life grow back more slowly, do not become as fibrous and are easier and less expensive to remove. There are two types of laser surgery: Laser treatment for red spots. A vascular (blood vessel) laser is used to treat the red spots. This type of laser is designed to destroy blood vessels. The treatment takes about 15 minutes. It can be carried out under a local anaesthetic, but may cause some discomfort. It is pain free when carried out under general anaesthetic. Following treatment there is rarely any discomfort after the procedure and usually no wound to care for if the treated area is relatively small. The full effect of a treatment may take eight weeks to assess. Laser treatment for raised angiofibromas. For angiofibromas that are raised above skin level, a different kind of laser is used. This is called an ablative laser. This type of treatment is usually performed under a general anaesthetic. After the surgery, the wounds will need to be taken care of carefully, including the use of ointments to help promote healing. Lasers are now widely accepted to treat facial angiofibromas. These treatments are proving to be more effective, less painful, and less likely to leave scars than older treatments (surgical removal, dermal abrasion or cryosurgery). A general anaesthetic may be necessary for an individual to cope with the procedure, especially for those with severe developmental disabilities. P6
The results of laser treatment are usually short-lived and reoccurrence is common. As a result, laser surgery may need to be repeated with or without general anaesthesia over the course of a person s life. Treatment using cream or ointments The introduction of mammalian target of rapamycin (mtor) inhibitors, such as sirolimus, for the treatment of TSC has led to the investigation of creams or ointments for facial angiofibromas in a number of case studies and clinical trials. This treatment appears to be relatively side-effect free. Their use has been associated with dramatic improvement of skin lesions. Topical preparations (which are applied to the skin) may also be a cost-effective option for the management of facial angiofibromas when compared to surgical options that may require general anaesthesic. Unfortunately, topical cream is not routinely available and doctors have to make a special request to obtain it. Similarly, laser treatment may need a special funding request to health authorities. P7
Information and support The TSA is here to help and support you. The first thing to understand is that TSC is a very complex disease. TSC affects all individuals differently, so what you might read about one person and how TSC impacts his or her life may be quite different from how it impacts your life. Speak to your clinician or GP about any concerns or questions you have. Living with TSC can raise a number of challenges and uncertainties but much has been learnt about TSC over the last decade and research into the condition has never been so active. The TSA can help you access the accurate and reliable information that you need, as and when you need it. The TSA can liaise with, and signpost you to, specialist services and help raise awareness and understanding of TSC among professionals. Please get it touch with the TSA at www.tuberous-sclerosis.org or by calling 0207 922 7731. P8
TSA Advisers We have a team of TSA Advisers across the UK. Examples of the ways in which we can help: Supporting people attending meetings with professionals, school review meetings, health care meetings, complaints processes and specialist hospital visits Helping individuals liaising with social services and health care professionals Liaising on your behalf with our professional medical advisers regarding complex TSC queries Providing TSC awareness sessions to staff in residential homes, supported living accommodation, schools and to professional staff such as nurses, where appropriate Helping to set up local regional support groups Holding events and gatherings to exchange information, share experiences and meet others in similar situations For more information please contact: support@tuberous-sclerosis.org Find your regional TSA Adviser here: www.tuberous-sclerosis.org/tsa_advisers The Tuberous Sclerosis Association To provide hope for today and a cure for tomorrow P9
References A list of TSC scientific references, TSC clinics and TSC professional advisers is available on request. We value your feedback Please help us improve the information we offer by sharing your comments on this publication. Please email information@tuberous-sclerosis.org or write to us at the address below. Supporting the TSA The TSA provides this information free of charge but if you would like to help cover the cost please visit the fundraising section of our website to make a donation: www.tuberous-sclerosis.org/fundraising.html Or send a cheque or postal order to: Tuberous Sclerosis Association, CAN Mezzanine, 32-36 Loman Street, Southwark, London SE1 0EH. Contact Us If you would like support or further information about any aspect of TSC, please contact us at: Tuberous Sclerosis Association, CAN Mezzanine, 32-36 Loman Street, Southwark, London SE1 0EH By email: admin@tuberous-sclerosis.org On our website: www.tuberous-sclerosis.org By telephone: 0207 922 7731 Join the TSC community online: www.facebook.com/thetsauk www.twitter.com/uktsa www.youtube.com/tsassociationuk P10
Notes Produced May 2017 - Review date May 2019 P11
About the TSA We re the only UK charity dedicated to supporting people affected by TSC. Our aim is to ensure that everyone affected by TSC has the care and support they need. TSCampaign: Our commitment to raising awareness and driving forward positive change TSCare: Our commitment to enhancing quality of life for all people affected by TSC TSCure: Our commitment to research www.tuberous-sclerosis.org admin@tuberous-sclerosis.org Tel: 0207 922 7731 Tuberous Sclerosis Association is a Company Limited by Guarantee Registered in England and Wales No. 2900107 English Registered Charity Number. 1039549 Scottish Registered Charity No. SC042780 Registered Office: CAN Mezzanine, 32-36 Loman Street London SE1 0EH Disclaimer: We have made every effort to ensure that information in this publication is correct at the time of going to print. We do not accept liability for any errors or omissions, and policy and practice may change.