Proteus Syndrome

Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.

Also Known As:

Networked: 54 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hodgkin Disease (Hodgkin's Disease)
2.	Nevus (Nevi)
3.	Multiple Hamartoma Syndrome (Cowden's Disease)
4.	Sebaceous of Jadassohn Nevus
5.	Neurofibromatoses (Neurofibromatosis)

Experts

1.	Hu, Hao: 2 articles (07/2007 - 03/2007)
2.	Cohen, M M: 2 articles (07/2001 - 07/2000)
3.	Praticò, Andrea D: 1 article (12/2015)
4.	Ruggieri, Martino: 1 article (12/2015)
5.	Smirnova, Nadezhda: 1 article (07/2015)
6.	Myakova, Natalia: 1 article (07/2015)
7.	Balashov, Dmitry: 1 article (07/2015)
8.	Konovalov, Dmitry: 1 article (07/2015)
9.	Skvortsova, Yulia: 1 article (07/2015)
10.	Evstratov, Dmitry: 1 article (07/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Proteus Syndrome:

1.	cAC10-vcMMAEIBA 07/01/2015 - "Brentuximab vedotin in the treatment of a patient with refractory Hodgkin disease and Proteus syndrome - a case report and discussion." 07/01/2015 - "We report a patient with Proteus syndrome and relapsed Hodgkin lymphoma, whose remission was finally achieved after brentuximab vedotin therapy, allowing her to receive a haploidentical stem cell transplant. "
2.	DNA (Deoxyribonucleic Acid)IBA 10/01/2004 - "In this study, affected and unaffected tissue from six patients diagnosed with Proteus syndrome were screened by direct sequencing of genomic DNA to determine if there might be an association between germ-line or somatic mutations in PTEN or GPC3 and the development of Proteus syndrome. " 08/18/2011 - "We confirmed and extended an observed association, using a custom restriction-enzyme assay to analyze the DNA in 158 samples from 29 patients with the Proteus syndrome. " 08/18/2011 - "We performed exome sequencing of DNA from biopsy samples obtained from patients with the Proteus syndrome and compared the resultant DNA sequences with those of unaffected tissues obtained from the same patients. "
3.	Encephalocraniocutaneous lipomatosisIBA 11/01/1993 - "The literature relating to encephalocraniocutaneous lipomatosis is reviewed, as well as that relating to the syndromes of naevus unius lateris, the Proteus syndrome and the syndrome of cranial hemihypertrophy, and the clinical features of our two cases are compared with the features of these four syndromes." 10/01/1993 - "We report on a patient with manifestations of encephalocraniocutaneous lipomatosis and Proteus syndrome. " 10/01/1993 - "Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism." 07/01/1992 - "We compared our findings in these three patients with those of 50 others with Proteus syndrome and nine with encephalocraniocutaneous lipomatosis (ECCL) reported in the literature. " 07/01/1992 - "Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations."
4.	Epidermal nevus syndromeIBA 07/01/2004 - "Nine epidermal nevus syndrome patients (26%) had Proteus syndrome. " 06/01/1995 - "By contrast, the pigmented hairy epidermal nevus syndrome and the Proteus syndrome may be explained by paradominant inheritance. " 01/01/2013 - "Recent genetic discoveries are noted in epidermal nevus syndrome, including Proteus syndrome and their association with hemimegalencephaly and congenital infiltrating lipomatosis of the face." 06/01/1995 - "In this paper, genetic aspects of the hamartoses are updated and asymmetry is discussed in Sturge-Weber angiomatosis, epidermal nevus syndrome, Gardner syndrome, neurofibromatosis, and Proteus syndrome." 01/01/1992 - "Proteus syndrome, encephalocraniocutaneous lipomatosis, and epidermal nevus syndrome have several overlapping phenotypic features. "
5.	Oculocerebrocutaneous syndromeIBA 12/01/1999 - "This disorder should be distinguished from other mosaic neurocutaneous phenotypes such as Proteus syndrome, oculocerebrocutaneous syndrome, and nevus sebaceous syndrome. " 01/01/1993 - "The clinical criteria to distinguish this disorder from other mosaic neurocutaneous phenotypes, such as Schimmelpenning syndrome, Proteus syndrome, or Delleman syndrome, are outlined. " 07/01/2003 - "This syndrome should be distinguished from other mosaic neurocutaneous phenotypes such as as Delleman syndrome, Schimmelpenning syndrome, Goltz syndrome, Goldenhar syndrome and Proteus syndrome. "
6.	Blue rubber bleb nevus syndromeIBA 10/15/1992 - "Five out of them are described: cutis marmorata, Rendu Osler disease, Bean syndrome, Maffucci syndrome, and Proteus syndrome." 05/01/2008 - "The purpose of this review is to describe the role of imaging and associated findings in the diagnosis of blue rubber bleb nevus syndrome, Proteus syndrome, Klippel-Trénaunay syndrome, and Kasabach-Merritt syndrome. " 12/01/2015 - "In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; microcephaly/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular nevus syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; Becker's nevus syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; Proteus syndrome; and encephalocraniocutaneous lipomatosis. "
7.	Kasabach-Merritt SyndromeIBA 07/01/2007 - "Kasabach-Merritt syndrome caused by giant hemangiomas of the spleen in patients with Proteus syndrome." 05/01/2008 - "The purpose of this review is to describe the role of imaging and associated findings in the diagnosis of blue rubber bleb nevus syndrome, Proteus syndrome, Klippel-Trénaunay syndrome, and Kasabach-Merritt syndrome. " 03/01/2007 - "Two Proteus syndrome patients with giant hemangiomas in the spleen causing chronic DIC (Kasabach-Merritt syndrome) were first reported. "
8.	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 12/01/2003 - "This is the 1st report showing that the Proteus syndrome may be associated with a chromosome 16 anomaly; while previous findings suggested that this syndrome was associated with a modification of chromosome 1. As the pathologic hypothesis of this syndrome possibly involves lethal genes in somatic mosaicism, responsible for control of cellular proliferation and/or alteration in the mechanism of action of some growth factors, chromosomal alterations found in the patient described in this work may suggest the location of the genes involved in this syndrome." 04/01/1994 - "The Proteus syndrome is a muscular dysgenesis; abnormal paracrine growth factors and perhaps altered genes that regulate muscle differentiation and growth, such as myoD and myogenin, are the suspected cause. "
9.	Phacomatosis pigmentovascularisIBA 08/06/1999 - "They include vascular twin nevi, phacomatosis pigmentovascularis, phacomatosis pigmentokeratotica, Proteus syndrome, and cutis tricolor. " 12/01/2015 - "In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; microcephaly/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular nevus syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; Becker's nevus syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; Proteus syndrome; and encephalocraniocutaneous lipomatosis. "
10.	Juvenile polyposis syndromeIBA 08/01/2004 - "A 2-year-old boy with Proteus syndrome, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, hyperostosis, overgrowth of tubular bones, bilateral inguinal hernia, and juvenile intestinal polyposis was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies. " 01/01/2014 - "Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. "

Therapies and Procedures

1.	Transplants (Transplant) 07/01/2015 - "We report a patient with Proteus syndrome and relapsed Hodgkin lymphoma, whose remission was finally achieved after brentuximab vedotin therapy, allowing her to receive a haploidentical stem cell transplant. "
2.	Semiconductor Lasers 01/01/2010 - "980-nm laser diode and treatment of subcutaneous mass in Proteus-like syndrome."
3.	Cranial Irradiation 01/01/2011 - "Associated disorders were: craniosynostosis, dwarfism with coarctation of aorta, Proteus syndrome, and cranial irradiation for brain tumor. "
4.	Transplantation (Transplant Recipients) 01/01/1995 - "The indications for transplantation have been diverse, primary pulmonary hypertension (10), cystic fibrosis (11), congenital heart disease (10), arteriovenous malformation (3), emphysema (1), graft-versus-host disease (1), rheumatoid lung (1), cardiomyopathy (1), desquamative interstitial pneumonitis (1), and Proteus syndrome (1). "
5.	Spinal Fusion (Spondylosyndesis) 01/01/2006 - "A 7-year-old girl with Proteus syndrome, complicated with severe kyphoscoliosis and cystic lung malformation, developed respiratory complications during and after posterior spinal fusion under general anesthesia. "