University of Edinburgh

Medical Information on Proteus Syndrome

by Dr Andrew Blaikie for VI Scotland

This document is written with the minimum use of medical terms and jargon. It is impossible to avoid all medical terms but where we have used them we have attempted to explain them as clearly as we can. Although the information is intended to describe most aspects of the condition each child is different and there will always be exceptions to the rule. As far as we can determine these pages are true and accurate and have been written in good faith.

What this information is not for

This document is not a substitute for a consultation with a Health Professional and should not be used as a means of diagnosing a condition.

We hope the information will help you to:

  • Have a better understanding of the condition
  • Know what tests and treatments are normally available
  • Know when to seek professional advice
  • Be able to discuss the condition in a more informed way
  • Make the most of consultations with carers, teachers and health professionals
  • Be reassured and more able to cope

Due to staffing limitations we are not able to offer telephone or email advice to parents of children.

Medical Information on Proteus Syndrome

What we see is made in the brain from signals given to it by the eyes. What we see is in fact made in the brain. The brain makes sight from signals given to it by the eyes.

What is the normal structure of the eye?

The eye is made of three parts.

  • A light focussing bit at the front (cornea and lens).
  • A light sensitive film at the back of the eye (retina).
  • A large collection of communication wires to the brain (optic nerve).

A curved window called the cornea first focuses the light. The light then passes through a hole called the pupil. A circle of muscle called the iris surrounds the pupil. The iris is the coloured part of the eye. The light is then focused onto the back of the eye by a lens. Tiny light sensitive patches (photoreceptors) cover the back of the eye. These photoreceptors collect information about the visual world. The covering of photoreceptors at the back of the eye forms a thin film known as the retina. Each photoreceptor sends its signals down very fine wires to the brain. The wires joining each eye to the brain are called the optic nerves. The information then travels to many different special 'vision' parts of the brain. All parts of the brain and eye need to be present and working for us to see normally.

What is Proteus Syndrome?

This is a condition that children are born with. It causes some parts of the body to grow too much. This is known as hypertrophy. It often only affects one side or half of the body. Hemi is a medical word for 'half'. Hemihypertrophy means overgrowth of one side of the body. The overgrowths tend to get bigger as a child gets older. The parts of the body it affects may include the:

  • Face
  • Skin
  • Hands and feet
  • Back bone (spine)
  • Eyes

Proteus was the name of a Greek god who could change the shape of his body. A syndrome is a condition where a few different signs always tend to be found together.

What causes Proteus Syndrome?

Proteus Syndrome probably develops when a misprint occurs in a certain genes of a child. Genes are a chemical alphabet stored in the body. Genes contain the body's 'built-in' plan to make sure all the parts of the body grow correctly. If a gene has a misprint in the chemical alphabet then a part of the body may not grow correctly. Nobody knows what genes cause Proteus Syndrome or how.

Why do children with Proteus Syndrome develop visual impairment?

Sometimes small overgrowths can occur on and around the eye. These are called dermoids or harmatomas. Parts of the eye that can be affected include the:

  • Eyelids
  • White of the eye (the sclera)
  • Clear window at the front of the eye (the cornea)

These overgrowths can spread over the clear window at the front of the eye (the cornea). This will block light entering the eye and cause visual impairment.

How is the diagnosis of Proteus Syndrome made?

The diagnosis can be made by a Paediatric Doctor examining a child. If the doctor sees overgrowths of parts of the body typical of Proteus Syndrome then they can make a 'clinical' diagnosis. There are not any special blood tests or scans that can help make the diagnosis.

What can be done to treat harmatomas of the eye?

An eye doctor (ophthalmologist) can cut away a harmatoma during an operation. This is good for eyelids and the sclera. If the cornea is affected then it is more difficult. The harmatoma can cause scarring and haziness of the clear cornea. An operation can help but may still leave scarring. This can cause visual impairment.

Any decision on treatment is discussed fully with the child and their parents. Treatments are not always successful. They can have side effects. The benefit to the child must always be weighed against any possible damaging effect of the treatment.

How can parents, family, friends and teachers make a difference?

There are however lots of things that can be done to help children with Proteus Syndrome make the most of their vision.

We use our vision to get around, learn new things and to meet other people and make friends. It is important to consider what your child's particular problems with vision might be now and in the future.

If your child has been prescribed spectacles, contact lenses or a Low Visual Aid (LVA) it is important that they are encouraged to wear and use them. This will help your child see more clearly and ensure the vision parts of the brain grow and develop.

Problems at school may be due to some of the reading books being hard to see. This often means it takes longer and more effort to do the work. If the size of print is increased and letters and words spaced more widely most children will find schoolwork easier. Good bright lighting and crisp black print on a clean white background will also make things easier. Sometimes placing reading books on a slope, which tilts the print towards the child, will improve reading speed as well. When reading it can be helpful to read one line at a time through a 'letter box' placed over the page.

It is also worth watching carefully to find out what the smallest toys are that a child can see and play with. Then try to only play with toys that are the same size or bigger. Placing one toy on a plain background will often help children see it more readily. Placing lots of toys of different size and colour close together on a patterned background can make them difficult to see.

Recognising facial expressions can often be difficult. It is worth trying to find out at what distance facial expressions can be seen and responded to. Then always try to talk and smile from within this distance. This helps a child to learn what facial expressions mean and to copy them.

Infants and young children need to learn about the world around them. Home visiting teachers, physiotherapists and occupational and speech therapists may all add to the child's care and education. It is important to continue the programmes that they recommend. If the child is involved in family activities vision can improve and new skills can develop.

Even if a child has very poor vision many useful and practical things can be done to improve the ability of the child to get around, interact with other children and learn.

Who wrote these documents?

These pages are the consensus of opinion of many different people. They include parents of visually impaired children, visually impaired children themselves, Community Paediatricians, Ophthalmologists, Educationalists and Psychologists.

The main author and person responsible for their content is Dr Andrew Blaikie who was an Ophthalmology Research Fellow with Visual Impairment Scotland and is a member of the Royal College of Ophthalmologists.

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