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Lipomatosis

Lipomatosis is a hereditary condition where a person develops benign tumors ranging from a few millimeters in size to a few centimeters. Lipomas or benign tumors composed of fatty tissue are soft to the touch and usually painless. This rare condition usually does not usually necessitate any treatment unless the lipomas restrict movement. Ultrasound is now used to destroy the lipomas unlike the traditional method of surgical removal involving scarring. Lipomatosis is not life-threatening. But if the lipomas grow within the internal organs, it can lead to internal bleeding and ulceration.

Tuberous Sclerosis

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.


Symptoms

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.


Symptoms include

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.


Causes

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.


Complications

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.


Diagnosis

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.


Treatment

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.



Osteochondroma

Osteochondroma or exostosis refers to benign tumors containing bone and cartilage - typically appearing at the end of a long bone. Osteochondroma manifests usually in the form of a bony outgrowth from the surface of the bone. Osteochondroma usually is noticed on the bones of the thigh, upper arm, hip and shin. Osteochondroma can manifest as a single tumor or multiple lesions. Osteochondroma tumors tend to irritate the surrounding tendons, muscles and tissues. There is pain and soreness in adjacent muscles. One arm or leg might be longer than the other. Osteochondroma is diagnosed through an x-ray. CAT scan and MRI is also done to examine the growth. Medicines are prescribed to control the pain. But if the Osteochondroma causes considerable pain and other problems, it is surgically removed.In rare cases, Osteochondroma can turn malignant in later years.

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Bibliography / Reference

Collection of Pages - Last revised Date: June 24, 2019