|Other encyclopedia topics:||A-Ag Ah-Ap Aq-Az B-Bk Bl-Bz C-Cg Ch-Co Cp-Cz D-Di Dj-Dz E-Ep Eq-Ez F G H-Hf Hg-Hz I-In Io-Iz J K L-Ln Lo-Lz M-Mf Mg-Mz N O P-Pl Pm-Pz Q R S-Sh Si-Sp Sq-Sz T-Tn To-Tz U V W X Y Z 0-9|
|Contents of this page:|
Alternative Names Return to topAdenoma sebaceum
Definition Return to top
Tuberous sclerosis is a group of two genetic disorders that affect the skin, brain/nervous system, kidneys, and heart, and cause tumors to grow. The diseases are named after a tuber- or root-shaped growth in the brain.
Causes Return to top
Tuberous sclerosis is inherited. Changes (mutations) in two genes, TSC1 and TSC2, are responsible for the condition.
Only one parent needs to pass on the mutation for the child to get the disease. However, most cases are due to new mutations, so there usually is no family history of tuberous sclerosis.
This condition is one of a group of diseases called neuro-cutaneous syndromes. Both the skin and central nervous system (brain and spinal cord) are involved.
There are no known risk factors, other than having a parent with tuberous sclerosis. In that case, each child has a 50% chance of inheriting the disease.
Symptoms Return to top
Skin symptoms include:
Brain symptoms include:
The symptoms of tuberous sclerosis vary from person to person. Some people have normal intelligence and no seizures. Others have severe retardation, serious tumors, or difficult-to-control seizures.
Exams and Tests Return to top
Signs may include:
Tests may include:
DNA testing for either of the two genes that can cause this disease (TSC1 or TSC2) is available.
Regular ultrasound checks of the kidneys are an important screening tool, to make sure there is no tumor growth.
Treatment Return to top
There is no specific treatment for tuberous sclerosis. Because the disease can differ from person to person, treatment is based on the symptoms.
Medications are needed to control seizures, which is often difficult. Depending on the severity of the menal retardation, the child may need special education.
Small growths (adenoma sebaceum) on the face may be removed by laser treatment. These growths tend to come back, and repeat treatments will be necessary.
Rhabdomyomas commonly disappear after puberty, so surgery is usually not necessary.
Support Groups Return to top
For additional information and resources, contact the Tuberous Sclerosis Alliance at 800-225-6872.
Outlook (Prognosis) Return to top
Children with mild tuberous sclerosis usually do well. However, children with severe retardation or uncontrollable seizures usually do poorly. Occasionally when a severely affected child is born, the parents are examined, and one of them is found to have had a mild case of tuberous sclerosis that was not diagnosed.
The tumors in this disease tend to be non-cancerous (benign). However, some tumors (such as kidney or brain tumors) can become cancerous.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
Call your health care provider if:
Call a genetic specialist if your child is diagnosed with cardiac rhabdomyoma. Tuberous sclerosis is the leading cause of this tumor.
Prevention Return to top
Genetic counseling is recommended for prospective parents with a family history of tuberous sclerosis. Prenatal diagnosis is available for families with a known DNA mutation. However, tuberous sclerosis often appears as a new mutation, and these cases are not preventable.
References Return to top
Haslam RHA. Neurocutaneous Syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 596.Update Date: 8/7/2008 Updated by: Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.