Proteus syndrome


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Pro·te·us syn·drome

[MIM*176920]
a sporadic disorder of possible genetic origin, having a variable and changing phenotype; characterized by gigantism of the hands and feet, by distorted, abnormal growth, pigmented nevi, thickening of the palms and soles, vascular malformations, and subcutaneous lipomas; often confused with neurofibromatosis type I.
Synonym(s): elephant man's disease (1)
[G. Proteus, a sea god who had the power to change his form]
Farlex Partner Medical Dictionary © Farlex 2012
A rare autosomal dominant [MIM 176920] condition characterised by acral gigantism, plantar hyperplasia, hemangiomas, lipomas, varicosities, linear verrucae, nevi, macrocephaly, cranial hyperostosis, pachydermy, and hypertrophy of long bones
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

Pro·te·us syn·drome

(prō'tē-ŭs sin'drōm)
A sporadic disorder of possible genetic origin, having a variable and changing phenotype characterized by gigantism of the hands and feet, distorted abnormal growth, pigmented nevi, thickening of the palms and soles, vascular malformations, and subcutaneous lipomas; often confused with neurofibromatosis type II.
Synonym(s): elephant man disease (1) .
[G. Proteus, a sea god who had the power to change his form]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
References in periodicals archive ?
It wasn't until 2003 that scientists were able to successfully extract DNA from Merrick's century-old hair and bone - but the results did not conclusively prove that he had Proteus syndrome either.
Dermatologie lesions that are characteristic of Proteus syndrome include cerebriform connective tissue nevus, which typically presents on the hands and feet.
Biesecker, "Proteus syndrome: misdiagnosis with PTEN mutations," American Journal of Medical Genetics, vol.
Table 1: Classification of Macrodactyly with Associated Conditions Subtype Associated Distinguishing Conditions Features True Proteus syndrome Connective tissue nevi, Macrodactyly epidermal nevi, disproportionate growth False Ollier's disease Enchondromatosis, Macrodactyly cerebral tumours Maffucci's syndrome Enchondromatosis, haemangioma Milroy's disease Congenital lymphedema Klippel-Trenaunay Port wine haemangioma, syndrome varicose veins, soft tissue/bone hypertrophy Vascular malformati on Neurofibro matosis Table 2: Review of Literature of Macrodactyly Sl.
It was reported yesterday that the agreement has been signed for the clinical development of ARQ 092, an orally available, selective small molecule inhibitor of AKT, in Proteus syndrome.
A dysfunction in the (RTK)/PI3K/AKT pathway has been described in some conditions such as Proteus syndrome [4].
It is now thought to be associated with the generalized harartomatous disorder, Proteus Syndrome. The differential diagnosis for this disorder includes Beckwith-Wiedemann Syndrome, Klippel-Trenaunay-Weber Syndrome, Neurofibromatosis, lymohangiomatosis, hemangiomatosis, and Mafucci's Syndrome.
She has also on numerous occasions had to help in the care of her mother who suffers from a rare condition known as Proteus Syndrome. This often calls for her mum to spend time at specialist hospitals in London and Dundee.
Differential diagnosis includes Parkes Weber syndrome, Proteus syndrome and the Maffuci syndrome.
Proteus syndrome is a rare congenital disorder with a highly variable clinical spectrum.
Infective cavities most frequently occur due to bacterial organisms, while a variety of systemic disorders like hyper immunoglobulin E syndrome, hydatid cysts, Langerhans cell histiocytosis, Marfan syndrome, proteus syndrome, and neurofibromatosis may give rise to pulmonary cystic changes.2