by Symptom Advice on October 19, 2011

October 12, 2011, 7:14 pm

Dr. B.J.C.Perera MBBS(Ceylon), DCH(Ceylon), DCH(England), MD(Paediatrics), FRCP(Edinburgh), FRCP(London), FRCPCH(United Kingdom), FSLCPaed, FCCP, FCGP(Sri Lanka) Consultant Paediatrician

* These are a group of conditions that children are born with.

*  there are manifestations in several organs and systems but the main involvements are in the skin and the nervous system.

*  all changes may not be apparent from birth and could develop later.

* DNA and genetic testing is useful in evaluation.

*  many other allied specialities may need to get involved in the management of these cases.

There are some rare disorders in children that they are born with that have marked effects on their life later on. One group of such these conditions are collectively known as neurocutaneous disorders. Neuro means the nervous system and cutaneous means the skin. These belong to a very broad group encompassing several different diseases. In effect these are a heterogeneous group of conditions that have manifestations in the skin as well as in the nervous system. These disorders are generally associated with the growth of tumours in various parts of the body. they are caused by the abnormal development of cells in an embryo and characterized by the presence of tumours in various parts of the body, including the nervous system and by certain differences or changes in the skin. while some of these conditions can be diagnosed at birth, others do not produce symptoms until later on in life. although most manifestations of neurocutaneous syndromes cannot be cured, treatment can help manage symptoms and any health problems that may occur.

Common neurocutaneous syndromes that affect children include neurofibromatosis types 1 and 2 (NF1 and NF2), Sturge-Weber syndrome (SWS), tuberous sclerosis (TS), ataxia-telangiectasia (AT) and von Hippel-Lindau disease (VHLD). Symptoms vary widely from condition to condition and they could affect different children in different ways. Often, the full effects of these diseases, even if detected at birth, do not emerge until a child grows up. the educational, social, and physical problems that the conditions cause may need many types of management strategies to be followed throughout a child’s life.

Neurofibromatosis is one of the more common of the neurocutaneous syndromes. it can cause tumours to grow on nerve cells, producing skin changes, bone deformities, eye problems, and other complications, particularly in the brain. Neurofibromatosis is usually inherited but up to half of the cases occur because of spontaneous changes or mutations within a person’s genes. Once a mutation occurs, the changed or mutant gene can then be passed on to succeeding generations. the child of a parent with neurofibromatosis has a 50 per cent chance of inheriting the disorder. the two different forms of this disorder are neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 accounts for approximately 90% of all cases. Neurofibromatosis Type 1or NF1, also known as von Recklinghausen disease, occurs in about 1 in 4,000 babies born. to diagnose NF1, doctors take a thorough medical and family history because children with NF1 often have a parent with the disease.

The classic sign of NF1 are skin pigment findings known as "café-au-lait" spots. These light brown or coffee-coloured patches may be present at birth and can look like freckles at first. they often increase in size and number during the first few years of life. A child diagnosed with NF1 will usually have at least six café-au-lait spots that are larger than freckles. the spots are flat, do not itch or hurt, and do not turn into anything more serious. another common sign is the presence of Lisch nodules which are tiny, benign (non-cancerous) tumours found on the iris of the eye. In some cases, tumours can develop along the optic nerves and affect vision. during puberty, benign tumours called neurofibromas develop on or under the skin or along the nerves of the body. Bone deformities may also develop.

NF1 treatment focuses on managing the symptoms. A child with complications involving the eye, nervous system, spine, or bones will need to be referred to an appropriate specialist for treatment. In cases where these neurofibromas are causing chronic pain, growing into vital body organs or causing infections, the growths can be removed through surgery. Children with NF1 also have a high prevalence of seizures, learning disabilities, attention deficit disorder (ADHD), and speech problems. Therapy and specialists can help manage those symptoms.

Neurofibromatosis type 2 is less common, occurring in about 1 in 40,000 births. Children who have it usually develop tumours on the auditory nerves which are the nerves leading to the ear but these do not develop until adolescence or young adult life. NF2 symptoms, which appear in the teenage years or early twenties, can include hearing loss, ringing of the ears and problems with balance. Different treatment options can help manage these problems.

Tuberous sclerosis or TS, causes benign growths called tubers to form on different body organs, including the brain, eyes, kidneys, heart, skin and lungs. it occurs in approximately 1 in 6,000 births, and the child of a parent with TS has a 50% chance of having it. TS is often first recognized when a child has seizures or shows developmental delays. the severity of TS symptoms varies greatly among affected children, ranging from mild skin abnormalities to cognitive delay or disability, mental retardation or kidney failure. Treatment usually includes medication to prevent seizures, treatments to address skin problems, surgery to remove tumours and the management of high blood pressure caused by kidney disease.

Sturge-Weber syndrome is a rare condition caused by a spontaneous genetic mutation that affects the skin and the brain. what prompts the mutation is unknown and so far no genetic factors have been found. it is not passed down by parents who carry the disease. Because it frequently goes undiagnosed, it is quite difficult to estimate how many people are affected. Each case of Sturge-Weber is unique and symptoms vary widely. the most visible marker is a facial birthmark or "port-wine stain" that is present at birth and usually covers at least one upper eyelid and the forehead. Sturge-Weber syndrome can lead to neurological problems including unusual blood vessel growths on the brain. These often cause seizures that begin before the first birthday and can worsen with age. A child also may experience convulsions on the side of the body that is opposite from the port-wine stain. About 30 per cent of patients also develop glaucoma which is an increase in the pressure inside the eye. this can impair vision, typically in the eye that is affected by the port-wine stain. That eye also might be enlarged, a condition called buphthalmos. Some affected children could also develop strokes. Treatments, medications, and surgery can help a child cope with the health problems associated with the disease. Children as young as 1 month old who have Sturge-Weber can undergo laser treatment to reduce or remove port-wine stains. Anticonvulsant medication may be used to control seizures, and surgery can control glaucoma and vision problems.

Ataxia telangiectasia (A-T) is a progressive degenerative disease involving many major body systems. it is a recessive genetic disease, meaning that both parents carry the gene that could combine to cause A-T in their children but the parents do not have the manifestations of the disease themselves. Two parents who carry the mutated gene have a 25 per cent chance of having a child affected by A-T. this condition is usually noticed in the second year of life as a child develops problems with balance and slurred speech caused by ataxia or lack of muscle control. the ataxia occurs because the cerebellum, the part of the brain that controls muscle movement, is degenerating. Eventually, the lack of muscle control becomes severe enough for the child to require a wheelchair. another symptom of A-T is the appearance of tiny, red, spiderlike veins in the corners of the eyes or on the ears and cheeks when exposed to sunlight. These veins, known as telangiectasias, are harmless. About 70 per cent of children with A-T also have immune system problems that make them more susceptible to chronic upper respiratory infections, lung infections, and pneumonia. they are also very susceptible to developing certain cancers, such as leukemia and lymphoma. currently, there is no cure for A-T and no way to stop its progression. but treatment can help some children to manage symptoms. Physical therapy and occupational therapy may help maintain flexibility and speech therapy can help to address slurring and other speech problems. Special medications may be given to help enhance the weakened immune systems.

Von Hippel-Lindau disease (VHL) is a genetic disorder involving the abnormal growth of blood vessels. it usually affects certain areas such as the brain and other parts of the central nervous system, the retina of the eye, the adrenal glands, the kidneys or the pancreas. its prevalence is unknown, but the child of a parent who carries the gene that causes VHL has a 50 per cent chance of having the disorder. Blood vessels usually grow like branches on a tree but in these children with VHL they form small tumours called angiomas. Doctors carefully monitor angiomas because depending on their location, they can cause other medical problems. an example of such a problem is visual impairment caused by angiomas in the eye. Symptoms usually appear when someone is between 10 and 30 years old. In addition to a thorough physical examination, VHL may need an MRI or CT scan for a firm diagnosis to be made. Symptoms depend on the size and location of the angiomas, and can include headaches, balance problems, dizziness, weakness, vision problems, and high blood pressure. Fluid-filled cysts or tumours, both benign and cancerous, may develop around the angiomas, worsening these symptoms. People with this disorder have a higher risk of developing cancer, especially kidney cancer.

VHL treatment will depend on the size and location of the angiomas. the goal is to treat the tumours while they are small and before they put pressure on any of the major organs, such as the brain or spine. Surgery may be required to remove the tumours before they create severe problems. the prognosis for VHL patients depends on the location of the tumours and the complications they cause. Fortunately, early detection and treatment can improve treatment outcome.

Some of these neurocutaneous syndromes such as tuberous sclerosis, neurofibromatosis and Sturge-Weber disease are life-long conditions that are not correctable. recently, important advances have been made in using DNA testing to confirm these syndromes in some people. Management includes focusing on preventing or minimizing deformities and maximizing the person’s capabilities at home and in the community. Positive reinforcement will encourage the person to strengthen his or her self-esteem and promote independence. In children, the full extent of the disease is usually not completely understood immediately after birth but may be revealed as the child grows and develops. Genetic counselling may be recommended by the physician to provide information on the recurrence risks for these disorders and details regarding any available testing.

The illnesses associated with neurocutaneous syndromes can place enormous stress and emotional burdens on you and your child, and it is easy to feel overwhelmed. Early intervention is important to helping your child achieve the best quality of life possible. the focus of treatment is to prevent or minimize complications and maximize a child’s strengths.

Positive reinforcement can strengthen a child’s self-esteem and foster a sense of independence. One needs to let the child find out what he or she is capable of, especially regarding daily living skills. Support groups can be extremely beneficial. they can provide a supportive social environment and are a great way to share knowledge and resources. With the facilities available on the internet, even foreign support groups could be contacted quite easily.

Psychotherapy or other supportive treatments can boost a child’s self-esteem and coping skills. Therapy also can help other family members deal with the stress involved in caring for a child with a chronic illness or disability.Physical, occupational, or speech therapy can help an affected child to improve some of the developmental delays caused by the specific illness.

Many medical professionals might need to get involved in caring for a child with a neurocutaneous syndrome during diagnosis and treatment. These professionals can include a family practitioner, pediatrician, neurologist, neurosurgeon, orthopaedic surgeon, oncologist, geneticist and ophthalmologist. A genetic counsellor also can provide information about genetic testing and the risk of passing the disease on to another child.

The writer would appreciate feedback from the readers. please e-mail him at


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