The development of many noncancerous (benign) tumours in various bodily regions is a feature of the hereditary condition known as tuberous sclerosis complex. These tumours can develop in the kidneys, heart, skin, brain, and other organs, and in certain instances, they can significantly harm health. Developmental issues are also brought on by tuberous sclerosis complex, which manifests differently in each individual.
Tuberous sclerosis complex frequently affects the brain, and some affected individuals develop cortical tubers, which are benign growths on the cerebral cortex’s outer surface. Autism spectrum disorder (ASD), hyperactivity issues, anger problems, mental health problems, intellectual disabilities, and mental health problems are a few of these illnesses.
Causes
Tuberous sclerosis complex (TSC), an autosomal dominant disorder, is brought on by mutations in the gene that codes for either the TSC1 or TSC2 protein component.The primary symptom of TSC is the development of non-cancerous tumours in a variety of organs, including the brain, eye, heart, skin, and lungs. The development of seizures, intellectual incapacity, developmental delay, and behavioural issues are all possible side effects of these tumours.
The severity and frequency of these symptoms can vary significantly. In addition, subependymal giant cell astrocytomas, pulmonary lymphangioleiomyomatosis, and kidney cysts may occur. Although TSC does not have a recognised therapy, the symptoms can be managed with a number of medications. The list also includes surgery, physical therapy, nutritional and lifestyle modifications, and pharmacological therapy.
To create any functional hamartin, the TSC1 gene must be modified in both copies, and to make any functional tuberin, the TSC2 gene must also be mutated.The cell can multiply and expand out of control without any of these proteins, eventually becoming a tumour.Patients with tuberous sclerosis complex commonly get a second TSC1 or TSC2 gene mutation over their lifetime in a variety of cell types.
As demonstrated in tuberous sclerosis complex, tumours arise when hamartin or tuberin are absent from many cell types, which can affect many different organs and tissues.
Symptoms
The genetic disorder tuberous sclerosis complex (TSC) causes a large number of noncancerous (benign) tumours to grow in a variety of different parts of the body. These tumours can form in the kidneys, heart, skin, brain, and other organs, and under some conditions they can have a major detrimental effect on health. TSC is characterised by behavioural issues like aggressive behaviour, sudden rage, attention deficit hyperactivity disorder, acting out, obsessive-compulsive disorder, and autism spectrum disorder as well as skin lesions such as white patches on a baby’s body (hypomelanotic macules), developmental issues, and skin lesions. Seizures, cysts, angiomyolipomas, and intellectual impairment are some more symptoms. It is significant to emphasise that each person will experience TSC in a unique way, and that early detection and therapy can help manage the illness.
Skin changes- The most typical skin changes include. They consist of small regions of thicker, smooth, or bumpy skin as well as patches of skin that is paler in colour. Raised, discoloured regions of skin can occur on the forehead. Under the nails or surrounding them, there may be little, soft lumps. It is typical for facial growths to appear as acne and to begin in childhood.
Seizures- There may be a connection between seizures and brain growths. First signs of tuberous sclerosis frequently include seizures. Infantile spasms are a type of common seizure that affects young children and are distinguished by stiff arms and legs as well as an arched back and head.
Problems in thinking, reasoning and learning- Developmental delays can occur as a result of tuberous sclerosis. The capacity to reason, think, and learn is occasionally constrained. Infantile spasms are a type of common seizure that affects young children and are distinguished by stiff arms and legs as well as an arched back and head.
Behavior problems- Hyperactivity, self-harm or violence, as well as difficulties adjusting to new social or emotional situations, are examples of common behavioural problems.
Kidney problems- Kidney growths are frequent, and as people age, they may become larger.
Heart issues- If there are any cardiac growths, they are typically at their largest at birth and get smaller as a child gets older.
Lung problems- Growths that develop in the lungs may cause coughing or trouble breathing, especially with physical activity or exercise. These lung tumors occur more often in females than in males.
Eye problems- The light-sensitive tissue called the retina at the back of the eye can display growths as white patches. The majority of the time, these growths don’t affect vision.
Dental changes- Pits on the surface of teeth are possible. On the tongue, inside of the cheeks, and on the gums, little growths may manifest.
Diagnosis
Clinical criteria are used to diagnose TSC, including recognising symptoms, reviewing a person’s family history, and using diagnostic imaging, such as ultrasound of the heart, liver, and kidneys, as well as CT or MRI scans (especially in the brain). Possible early symptoms of TSC include seizures and delayed growth. The skin, fingernails, toenails, teeth, gums, and eyes can all be examined by a doctor in order to identify the disease.
TSC in children may be suspected if the child has cardiac rhabdomyomas at birth or seizures (particularly infantile spasms) within the first six months of life. It might be feasible to identify TSC in a very young infant with a detailed evaluation of the skin and brain. However, a lot of children do not get a diagnosis until later in life, when their seizures start and other symptoms start to appear.
Treatment
Tuberous sclerosis has no known treatment, but it is possible to manage some symptoms with some medications. Examples include:
Medicine: Anti-seizure drugs can be used to manage seizures. Certain symptoms, such as behavioural issues or irregular heartbeat, may be treated with additional medications. Some forms of kidney and brain growths that are not amenable to surgical removal may be treated with a drug called everolimus (Afinitor, Zortress). Using these medicines at the beginning of treatment may help reduce the chance of seizures. A drug called sirolimus (Hyftor) in the topical ointment form may be used to treat skin growths that resemble acne.
Surgery: If a tumour is interfering with the kidney, brain, or heart’s capacity to function, surgery may be required to remove it. When brain growths that cause seizures don’t respond to medication, surgery may be done to control them. The appearance of skin growths may be improved by surgical techniques including dermabrasion or laser therapy.
Therapy: Occupational, physical, or speech therapy provided as part of an early intervention programme may be beneficial. Tuberous sclerosis patients who require special care in certain areas can benefit from these therapies. Children’s capacity to handle daily activities and duties can be improved by the therapies.
Educational and vocational services: Children with behavioural challenges and developmental disabilities may find it easier to adjust to school with the aid of early intervention and special needs services. By doing this, they may achieve their maximum potential. Social, career, and rehabilitative assistance may be continued as needed throughout life.
Mental health and behavior issues: Some may find it easier to accept and cope with living with tuberous sclerosis after speaking with a mental health professional. A mental health professional can also offer resources and assistance with behavioural, social, or emotional problems.
Prognosis
TSC has a typically favourable prognosis. The majority of TSC sufferers can lead regular, healthy lives with early diagnosis and treatment. Some of the long-term challenges that some people could have include seizures, developmental delays, and behavioural problems.