Acne

Acne is a common woe with most adolescents. Sometimes people continue to get acne even in their 20s and 30s. Acne normally surfaces on the face, neck, chest and back. Overactive sebaceous glands on the skin and blocked follicles lead to the formation of acne. This happens when the sebum plugs the follicles and the bacteria therein lead to acne. Acne is not caused by dirt or improper cleansing of the skin. The overactive oil glands tend to form whiteheads, blackheads and pimples.

Hormonal changes are the most common cause for acne. Hereditary and certain medications can also make a person prone to acne. Stress can trigger an attack of acne due to overactive adrenal glands. It is essential not to touch, pinch or squeeze the pimples. It can lead to scarring and formation of pits.

A dermatologist can help in healing the pimples and prevention of scarring. A person suffering from acne must follow a meticulous cleansing routine. Topical creams may be prescribed to help mild cases of acne. These may include products containing retinol-A, benzoyl peroxide and vitamin A acid-like drugs. Corticosteroids are used in the treatment of severe acne. Antibiotics such as tetracycline, doxycycline, minocycline or erythromycin are often prescribed for acne. Birth control pills have been seen to be effective in controlling acne. Skin treatments such as microdermabrasion and glycolic acid peels are used to treat scars and pitting caused due to prolonged and severe acne.

Precocious Puberty

Precocious puberty is an uncommon condition that occurs when puberty begins before the age of eight in girls and before age nine in boys. The signs and symptoms of precocious puberty:

In Girls:

• Development of breasts
  
• Hair development underarm or in public parts
  
• Rapid height growth
  
• Onset of menstruation
  
• Acne
  
• Adult body odor

In Boys:

• Enlargement of testicles
  
• Hair growth in face (usually grows first on the upper lip), public parts /underarm
  
• Rapid height gain
  
• Deepening of voice
  
• Acne
  
• Adult body odor

In some children 'partial' precocious puberty could be seen. Girls may show breast development that later disappears or may persist without any other physical changes of puberty. Such children with partial precocious puberty should be evaluated by a medical professional to rule out any other health problems. By and large such instances do not require any treatment and usually will show the other expected signs of puberty at the right age.

Causes for Precocious Puberty

Abnormalities in ovary and testicles may contribute to precocious puberty. Problems in the ovaries, thyroid gland disorders can also cause the onset of puberty ahead of schedule. Sometimes precocious puberty is the result of a structural problem in the brain such as a tumor, brain injury due to head trauma, infection such as meningitis that triggers puberty to begin early. In a majority of girls there is no underlying medical problem but they simply start puberty too early for no known reason. Certain types of environmental contamination like environmental toxins could play a role in causing precocious puberty.

Central precocious puberty

• Tumor in the brain or spinal cord
  
• Infection such as encephalitis or meningitis
  
• A birth defect in the brain such as hydrocephalus or hamartoma (tumor)
  
• Radiation to brain or spinal cord
  
• Injury to brain or spinal cord
  
• Ischemia
  
• McCune Albright Syndrome - a genetic disease that affects the bones and skin color and causes hormonal problems
  
• A group of inherited disorders known as Congenital adrenal hyperplasia which involves abnormal hormone production by the adrenal glands.
  
• Hypothyroidism

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.