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Tuberous sclerosis is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. Common signs and symptoms include patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Tumors may cause developmental problems (e.g., seizures, hyperactivity, aggression, learning problems, autistic-like behaviors). Some tumors can cause serious complications (e.g., those affecting the brain, heart, or kidney). Tuberous sclerosis complex has an autosomal dominant pattern of inheritance and can be caused by mutations in the TSC1 or TSC2 gene. Treatment depends on the symptoms in each individual case and may include medications or surgery.
Source: GARD Last updated on 05-01-20
Lagophthalmos is the medical term for "incomplete closure of the eyelid." Lagophthalmos can cause drying, infection, corneal ulceration, corneal perforation, and loss of vision.
Lagophthalmos is often caused by facial palsy. Facial palsy may be due to a variety of conditions and factors, including Bell's palsy, trauma, infection, or tumors. Lagophthalmos can occur as a result of bulging eyes (e.g., as in Graves disease), or in individuals whose face has suffered scarring. Other causes, include ocular cicatrical pemphigoid, erythema multiforme, leprosy, chronic alcoholism, dementia, parkinsonism, general anesthesia, and coma. Temporary lagophthalmos can occur in infants or in people during sleep.
Treatment may include artificial tears, eye ointment, moisture chambers, or surgery.
It is possible that a tuberous sclerosis related tumor or complication could cause lagophthalmos. If you or a loved one has tuberous sclerosis and is experiencing lagophthalmos we strongly recommend that you speak with a geneticist or other healthcare professional who can help you determine the underlying cause of the condition.
Genetic professionals are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.
The following online resources can also help you find a genetics professional in your community:
GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
The American Society of Human Genetics (ASHG) is a professional organization of research and clinical geneticists. The ASHG maintains a database of these geneticists, some of which live outside of the United States. If you are interested in obtaining a list of the geneticists in your area, some of which may only be researchers and may not offer medical care, please visit the following hyperlink, to search.
Last updated on 05-01-20
The Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations Consortium is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research on Tuberous Sclerosis Complex (TSC1 and TSC2 genes), PTEN ASD/ID syndrome and Phelan-McDermid syndrome (PMS; SHANK3 gene). The Consortium has a contact registry for patients who wish to be contacted about clinical research opportunities and updates on the progress of the research projects.
For more information on the registry see: https://www.rarediseasesnetwork.org/registry/index.htm
Last updated on 04-27-20
The Tuberous Sclerosis Alliance provides information about a new diagnostic test for lymphangioleiomyomatosis (LAM). This test measures vascular endothelial growth factor D (VEGF-D), which is known to be elevated in the blood of people with LAM, including those with tuberous sclerosis.
Last updated on 04-27-20
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