This is a rare multi system genetic disease where benign tumors grow in the brain and other vital organs of the body such as kidneys, heart, eyes, lungs and skin. Tuberous Sclerosis is derived from the Latin word, tuber means swelling and the Greek Skleros means hard - a pathological finding of thick, firm and pale tubers in the patients. As these tubers were first described by Bourneville in 1880, it is sometimes known by the name Bourneville's disease.
A combination of symptoms including non-cancerous tumors or lesions in many parts of the body; in the brain, kidneys, heart, lungs and skin and also seizures, intellectual disability, developmental delay, skin abnormalities, lung and kidney disease.
Skin abnormalities: Patches of light colored skin or small harmless areas of thickened skin or growth under or around the nails. Facial lesions resembling acne are common.
Seizures: due to lesions in the brain which can be the first symptoms of tuberous sclerosis. Infantile spasms in small children may occur.
Developmental delays: Intellectual disability and learning and developmental delays.
Behavior problems: Hyperactivity, raging outbursts, aggression, repetitive behaviors, social and emotional withdrawal.
Communication and social interaction problems: Children especially exhibit trouble with communication and social interaction and some may have autism spectrum disorder.
Kidney problems: develop lesions in kidneys which may damage kidney function.
Heart problems: Lesions may develop in the lungs and may cause coughing or shortness of breath, especially with physical activity or exercise.
Eye abnormalities: White patches develop on the light sensitive tissue at the back of the eye (retina). But these do not interfere with vision most of the times.
Tuberous sclerosis is caused by a mutation of either of two genes - TSC1 and TSC2 which code for proteins hamartin and tuberin respectively. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation. The effect of these on the brain leads to neurological symptoms.
It is a rare genetic disease and is often detected during infancy or childhood. About one-third of the people with tuberous sclerosis inherit an altered TSC1 and TSC2 gene from a parent who has the disease. There is a 50% chance of passing the condition to the biological children although severity of the condition may vary. A parent with tuberous sclerosis may have a child with milder or severe form of the disorder.
Severe life-threatening complications can be caused depending upon where the tumors are developed and their size. Some complications that could develop are:
Lesions in the brain can block the flow of cerebral spinal fluid within the brain. This blockage can cause the buildup of fluid in the cavities, ventricles and within the brain leading to symptoms such as nausea, headaches and behavioral changes.
Lesions in the heart, especially in infants can block blood flow and cause problems in heart rhythm.
Lesions in the kidney can be large and life threatening - can cause bleeding or lead to kidney failure and sometimes become cancerous too.
Lesions in the lung can lead to lung failure. Lesions in the eye can interfere with vision.
Patients are evaluated by different specialists including a geneticist, and those trained to treat problems of brain, heart, eyes, skin and kidneys. The doctors typically look for tumors who conduct tests to diagnose tuberous sclerosis. A child with seizures will undergo EEG as this can test the brain activity and help pinpoint what causes the child's seizures. Diagnostic testing to detect abnormal growths in kidneys and brain include MRI and CT and ECG to test electrical activity of the heart. In tuberous sclerosis, follow up monitoring is important and essential.
Although there is no cure for tuberous sclerosis, treatment can help manage specific signs and symptoms. Education therapy can help children adapt to developmental delays and meet the classroom requirements. Medication may help manage behavioral problems. Everolimus is used to treat certain types of brain growths and kidney tumors that cannot be surgically removed. The topical ointment form of the drug called sirolimus can help treat acne-like skin lesions that can occur with tuberous sclerosis. Psychological therapy can help the child accept and adjust to living with this disorder. Physical therapy can improve his/her ability to handle daily tasks.
If the lesion affects the ability of a specific organ function, then surgery may be resorted to. Sometimes, surgery can control seizures caused by brain lesion in case medication fails. Dermabrasion or laser treatment may improve the appearance of skin lesions.
Family and support
Parents may consider genetic testing to confirm the diagnosis of tuberous sclerosis in their child, if the family history is not known. In case of a child diagnosed with tuberous sclerosis, there will be a number of challenges. It is essential to track the child closely with his/her peers in terms of academic, social and physical abilities. It is important to work closely with the child's doctor to establish an ongoing screening and monitoring schedule for health and developmental problems. Discovering and treating problems early will maximize the child's chances of a good outcome.
In case of early behavioral problems, it is essential to talk to the child's doctor and work with the child's school. Providing love and support is vital to help the child reach his/her full potential. It would also be helpful to connect with other families who are coping with tuberous sclerosis.
Leukoderma or vitiligo as it is sometimes called, is a chronic skin condition that causes loss of pigment leading to pale spots of skin. Leukoderma can be described as an autoimmune skin disease where the body destroys its own pigment cells, melanocytes. After the pigment disappears, small or even larger areas of skin become white with sharp margins where they join unaffected parts of skin. The hair in these areas also grow white rather than pigmented. Leukoderma is more noticeable during summer when the normal skin darkens. The causes for leukoderma could be a combination of genetic and environmental factors. Inheritance seems to be a dominant trait for this condition.
Leukoderma may also occur at sites of injury to the skin and may show itself as scars or burns. Recent studies suggest that leukoderma could be caused by the development of an antibody to an enzyme in the pigment cell. Leukoderma may be caused due to several other factors as well - congenital as in tuberous sclerosis, partial albinism and Piebaldism and Waardenburg's syndrome. The immunological causes of leukoderma are Vitiligo and Halo mole. Thermal burns, Dermatitis or eczema and Psoriasis may also result in leukoderma. Infectious conditions such as Pityriasis versicolor, leprosy, lichen planus and syphilis could also result in leukoderma. Some occupational hazards that could cause leukoderma are exposure to depigmentation agents such as tertiary butyl phenol and exposure to chemicals.
The spots can spread, shrink or remain the same. It is often noticed that patches occur in symmetrical fashion across both sides of the body. Some times mild trauma to an area of skin can cause new spots as around ankles caused by friction due to shoes or sneakers. Corticosteroid ointment or cream of appropriate strength is used depending on the site involved. Normally a mild steroid is used on the face and a stronger one for the trunk and limbs. A specialized form of light treatment PUVA is also of value to some patients.
Wood's Lamp Examination
A wood's lamp examination helps the doctor confirm a fungal infection or bacterial infection. The doctor is able to determine the cause of any light or dark colored spot on the skin using this examination. This is a test using Ultraviolet or UV light to look more closely at the skin.
In case of fair skinned individuals, Wood's lamp can detect Vitiligo or any other depigmentation even when it is not visible to the eye under normal conditions. In case of detection, Vitiligo can be treated at an early stage even before it is visible to the normal eye, thereby minimizing treatment and preventing further expansion of the disorder.
What is Wood's lamp?
Also known as Black Light Test, or Ultraviolet Light Test, this is based on the use of ultraviolet light which is shined on the area being examined, when performed in a dark room. It emits ultraviolet light in the 365 nanometer range and when the light is shined directly on the area in darkness, the dermatologist looks for any change in color or fluorescence. While normal skin does not fluoresce under the light of the Wood's lamp, affected skin 'glows' in dark. if any fungal or bacterial infection or pigment is present, the Wood's lamp can strengthen or lessen the suspicion of a particular diagnosis based on the color of florescence of the affected skin being illuminated. Even subtle color changes can be detected very well using Wood's lamp.
You will be seated in a dark room usually in the dermatologist's office. The doctor turns on the Wood's lamp and holds it approximately 5 inches from the skin to look for color changes. It will reveal skin color changes not visible to the mere eye examination. The patient is advised not to look directly into the light when being examined. This portion of the examination usually lasts for less than a minute and the patient feels no discomfort from the examination.
Pre and post procedure
Before the Wood's lamp examination do not wash the area or apply any cream to the skin to avoid inaccurate results. Following the procedure, the dermatologist may decide to treat the skin condition based on the results of the Wood's lamp examination. Additional tests are sometimes done to arrive at the correct diagnosis. No aftercare is recommended specific to the examination and depending on the result of the examination the physician may recommend treatment of a skin disorder.
Why is Wood's lamp examination done?
Certain skin problems including bacterial and fungal infections, Porphyria, skin coloring changes in Vitiligo, head lice and nits, Erythrasma and other pigmentary disorders can be performed using this test.
The test also reveals different colors according to the type of the skin disease which includes:
Exposure to Ultra violet Light for prolonged duration can result in skin damage and cancer of the skin. But this test hardly lasts for a minute and the intensity of the light is minimal. Patients should avoid looking directly into the UV light and since the time for the procedure is very minimal - less than a minute - the procedure is well tolerated as there is no associated pain and no side effects as a result. Beware that the presence of other materials like certain kind of makeup, deodorants, perfume, body lotion or soap can also fluoresce leading to difficulty in arriving at a conclusive diagnosis. Equally if the room is not dark enough, it may present difficulty for proper examination. Not all bacteria or fungi show up under the UV light.
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Bibliography / Reference
Collection of Pages - Last revised Date: December 8, 2023