Proteus syndrome is a rare disorder first identified in 1979 but with cases described in the literature since 1856.

The clinical features of Proteus syndrome are overgrowth/enlargement of soft tissue and bone which can affect any area of the body but often involving the hands and/or the feet, the skull and sometimes the whole of one side of the body (hemihypertrophy) and blood vessel (vascular) abnormalities. Superficial warty birthmarks (epidermal naevi), soft deeper (subcutaneous) lumps, thickening of the skin on the soles and bony problems, in particular, of the skull, hand/feet and curvature of the spine may also be present.

The abnormalities seen in Proteus syndrome are present at birth but may become more apparent and develop with age. The clinical features described may not all be present in any one affected individual and the severity can vary widely. The nature of the varied complications of the disorder depend on the site and severity of the problem.

Medical care requires a multidisciplinary approach covering orthopaedic, dermatological, genetic, surgical, dental, ophthalmological, radiological and psychological management.

Inheritance patterns
The cause of Proteus syndrome is unknown

Prenatal diagnosis
None

Medical text written November 1998 by Dr J Harper. Last reviewed October 2004 by Professor J Harper, Consultant in Paediatric Dermatology, Great Ormond Street Hospital, London, UK.

PROTEUS FAMILY NETWORK (UK)

Proteus Family Network (UK)
31 Baswich Lane
Weeping Cross
Stafford
ST17 0BH
Tel: 01785 254953
e-mail: info@proteus-uk.org
Web: http://www.proteus-uk.org

The Network is a National Registered Charity No. 1098608, established in 1997. It offers support by telephone and letter and linking families where possible. The Network has a Medical Advisory Board and supports research in the UK into Proteus syndrome It publishes a newsletter three times a year and has information available, details on request. Please send SAE. The Network is in touch with over 40 families in the UK and overseas. It can also provide support and information for families of those with associated conditions including Klippel-Trenaunay syndrome.

Group details last confirmed October 2006.

PROTEUS SYNDROME FOUNDATION (UK)

Proteus Syndrome Foundation (UK)
2 Watermill Close
Bexhill-on-Sea
TN39 5EJ
Tel/Fax: 01424 736640 (evenings/weekends)
e-mail: tracy.whitewood_neal@virgin.net
Web: http://www.proteus-syndrome.org.uk

The Foundation is a National Registered Charity No. 1077796, established in 1997. It offers support to families by telephone, letter and e-mail and links families where possible. It has medical advisory panel, publishes a newsletter twice a year and has a library of medical articles available. The PSF UK also provides grants to families principally to improve the quality of life for affected children and their families. The Foundation is in touch with over 80 families in the UK and overseas. It has strong links with the PSF in the USA and supports families to attend research programmes and Family Conferences.

Group details last updated October 2007.