It is also known as epiloia, transmitted by autosomal dominant gene with great variability of expression. Nearly half of the cases are due to new mutation.
Tuberous sclerosis is a genetic disorder caused by gene changes — sometimes called mutations — in either the TSC1 or the TSC2 gene. These genes are thought to prevent cells from growing too fast or in an out-of-control way. Changes in either of these genes can cause cells to grow and divide more than needed. This leads to multiple growths throughout the body. These growths are considered noncancerous tumors.
Tuberous sclerosis can be the result of either:
- A random cell division error.About two-thirds of people who have tuberous sclerosis have a new change in either the TSC1 or the TSC2 gene linked with tuberous sclerosis. Most people do not have a family history of tuberous sclerosis.
- A gene change passed down in families.About one-third of people who have tuberous sclerosis get a changed TSC1 or TSC2 gene from a parent who has the disorder.
Clinical features include
The characteristic skin lesions include:
(a) Adenoma sebaceum or angiofibroma: Angiofibromas usually appear between the age of 3 and 10 years, usually become more extensive at puberty and remain unchanged as later life. It presents as firm, discrete, yellowish or telangiectatic papules 1 10 mm in diameter on naso-labial furrows, cheeks, chin and occasionally on the cars.
(b) Periungual fibromata or Koenen's tumour: Periungual fibromata usually appear at or after puberty as smooth, firm and fleshy lesions under the They are usually multiple and 5-10 mm in length.
(c) Shagreen patch: Shagreen patch is an irregularly thickened, slightly raised, soft plaque usually present at lumbosacral region.
(d) Ovoid or linear leaf-shape white macules: The leaf-shape white macules vary from 1 to 3 cm in length and are usually present on the trunk or limbs, This is an important physical marker as it may be present at birth or in carly infancy much before any cutaneous lesions of the disease develop.
Mental retardation and epilepsy.
Mental retardation is seen in 60-70% of cases which is usually progressive. Epilepsy ultimately develops in most of mentally retarded patients. Eye involvement as retinal phacomata are seen in a few patients. Calcified nodules in the brain, especially in the region of basal ganglion is usually seen in the X-ray of the skull.
Depending on where the noncancerous tumors grow and their size, they can cause severe or life-threatening complications. Here are some examples:
- Too much fluid in and around the brain.One type of noncancerous brain growth, subependymal giant cell astrocytoma, can grow along the lining of the fluid-filled spaces in the brain, called ventricles. The tumor can block the flow of fluid that helps protect the brain, causing fluid to build up around the brain. This buildup is called hydrocephalus. Symptoms can include a head size that is larger than expected, nausea, headaches and behavior changes.
- Heart complications.Growths in the heart, usually in infants, can block blood flow or cause problems with heart rhythm.
- Kidney damage.Growths in the kidney can be large and cause potentially serious — even life-threatening — kidney problems. Growths in the kidney can cause high blood pressure or bleeding or lead to kidney failure. Rarely, kidney growths can become cancerous.
- Lung failure.Growths in the lungs damage the lung tissue and can lead to collapsed lungs. The growths interfere with how well the lungs can provide oxygen to the rest of the body.
- Increased risk of cancerous tumors.Tuberous sclerosis is linked with an increased risk of developing cancerous tumors in the kidneys and brain.
- Vision damage.Growths in the eye can interfere with vision if they block too much of the retina, though this is rare.
Homoeopathy today is a rapidly growing system and is being practiced all over the world. It strength lies in its evident effectiveness as it takes a holistic approach towards the sick individual through promotion of inner balance at mental, emotional, spiritual and physical levels. When tuberous sclerosis is concerned there are many effective medicines available in Homoeopathy, but the selection depends upon the individuality of the patient, considering mental and physical symptoms.
CICUTA VIROSA -Cicuta virosa is one of the excellent remedies for tuberous sclerosis. Cicuta is best for violent convulsions. There is sudden rigidity followed by jerks and violent distortions, oppression of breathing, lock jaw, face dark red, frothing at the mouth with opisthotonos and great prostration after the attack. Fearful distortion of eyes. The epileptic fits come with swelling of stomach. Fingers clenched. The head, neck and spine bend backwards like an arch. There is moaning and howling. The patient remembers nothing after the attack. The fit is worse by slightest touch or jar. Suppressed eruption causes brain disease. Elevated eruptions, as large as peas.
BUFO RANA - Bufo rana is best for tuberous sclerosis in feeble minded children or prematurely seniles. Seizures occur at night during sleep, more or less connected with the sexual sphere. Mouth wide open before an attack and dropping of the jaw after the attack. Urine passes involuntarily after the attack. It is best for epilepsy of females who have attacks of seizures during menses.Patches of skin lose sensation. Pustules, suppuration from every slight injury. Pemphigus. Bullæ which open and leave a raw surface, exuding and ichorous fluid. Blisters on palms and soles. Itching and burning.
NUX VOMICA -Nux vomica is best for tuberous sclerosis which is worse from anger, touch, emotion, moving, indigestion. There is convulsions with titanic rigidity, red face, opisthotonos, and closed eyes. Involuntary urination and defecation in fit. Deep sleep follows the attack. Worse in open air.