What is Proteus Syndrome?

Proteus syndrome is a rare congenital segmental overgrowth condition, the abnormalities are defined at birth although some may not be fully apparent and may develop with age. Complications are variable and dependent on the nature of the problem the site and severity.

Proteus syndrome shows itself by an overgrowth of almost any part of the body together with a variety of other tissue abnormalities. These include warty lesions on the skin, soft tissue lumps derived from blood vessel tissue, fatty lumps or a mixture of different types of tissue.

The most characteristic forms of overgrowth are asymmetrical enlargements of the skull, the part or whole of one or more limbs and typically one or more large digits on the hands and/or feet. Another feature often seen is the ridged thickening of the soles of the feet (moccasin feet ). Other aspects can include skeletal abnormalities such as bony lumps and spinal deformities.

No two cases of Proteus syndrome are identical, nor the severity which can range from being very mild to severe, with the majority of cases falling into the mild to middle range.

Medical care requires management by specialists, including orthopaedic, genetics, ophthalmic, dermatological, vascular, general and plastic surgery, maxillary and facial, physiotherapy and psychology.

Although Proteus syndrome is known to be caused by genetic mutation it has not been proved to be inherited. We support Research in to the causation and possible future treatment of the condition.

Why is is called Proteus Syndrome? In 1983 a German paediatrician Hans Rudolf Wiedermann gave the name Proteus syndrome to this unique collection of symptoms. The name was taken from Greek mythology to emphasise the changing nature of this condition – Proteus, the old man of the sea who could change his shape at will to avoid capture.

Click on the following link to access information on Proteus Syndrome provided by Great Ormond Street Hospital for children:

http://www.gosh.nhs.uk/medical-information-0/search-medical-conditions-0/proteus-syndrome

What is Klippel Trenaunay?

Klippel Trenaunay – KT-syndrome is also a rare congenital segmental overgrowth condition, which can present with hypertrophy, vascular abnormalities and Port Wine birth marking. These may be visible at birth but symptoms come become more marked as the child grows.

The birth marking is usually flat and red or purple and may be on a part of a limb of trunk, head or neck. Vascular abnormalities often exist in one or both legs, with varicose veins, which can become more apparent with age. The wearing of compression garments helps relieve associated pain and vascular insufficiency.

Overgrowth of limbs can be in circumference and also in length. With a lower limb then this can lead to scoliosis of the spine if the leg length discrepancy is marked or if the overgrowth affects an upper limb on one side of the body.

As with Proteus syndrome Klippel Trelawney is caused by genetic mutation and has not been proved to be inherited. We support research into the causation and possible future treatment of the condition.

Click on the following link to access information on Klippel Trenaunay provided by Great Ormond Street Hospital for children :

http://www.gosh.nhs.uk/medical-information-0/search-medical-conditions/klippel-trenaunay-syndrome

Segmental Overgrowth Conditions

Research into overgrowth conditions has moved on apace in the past couple of years. Whereas at one time a clinical diagnosis of Klippel Trenaunay was made on physical presentations, it has been found that these patients do not always share the same genetic mutation. Addenbrookes hospital in Cambridge, under the lead of Dr Rob Semple and in collaboration with the research team at the Institute of Child Health and led by Dr Veronica Kinsler, have been undertaking research into which gene is responsible for overgrowth conditions. Out of a good cohort of patients with a diagnosis of KT it has been found that around 40% have tested positive for the PIK3CA gene, whilst the remaining patients did not test positive for that genetic mutation.

This means that while the physical presentation of an overgrowth condition may be very similar, it is not caused by the same genetic mutation.Because of this, the term Segmental Overgrowth Conditions has been adopted to embrace all overgrowth conditions.

Addenbrookes are able to offer genetic testing to see if overgrowth is as a result of the PIK3CA gene. For those who test positive, there is a possibility of participating in a treatment trial of Sirolimus. For more information about Segmental Overgrowth conditions and the work at Cambridge follow this link:

http://www.overgrowthstudy.medschl.cam.ac.uk/

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