The skin
Angus Clarke, Alex Murray, Julian Sampson in Harper's Practical Genetic Counselling, 2019
Cavernous haemangiomas of the facial region are usually sporadic, as is the trigeminal area flat vascular naevus of Sturge-Weber syndrome, and the limb angiomas associated with hypertrophy (Klippel-Trenaunay-Weber syndrome). Somatic mutations have been confirmed in vascular endothelial growth factors in some types. Haemangiomatous and lymphangiomatous lesions of the limbs may be associated with hypertrophy and are usually sporadic, although familial cases are described. The usual cause of the Proteus syndrome is somatic mutation in the AKT1 gene. Knowledge of the molecular basis of these disorders is becoming relevant therapeutically and is therefore gaining in clinical importance. Rare instances of autosomal dominant inheritance in association with Wilms tumour have also been recorded. Other specific types of naevus following autosomal dominant inheritance are naevus flammeus of the nape of the neck and the ‘blue rubber bleb’ multiple naevi.
plastic Surgery
Stephan Strobel, Lewis Spitz, Stephen D. Marks in Great Ormond Street Handbook of Paediatrics, 2019
Proteus syndrome is characterised by abnormal overgrowth of bone, blood vessels, lymphatics and soft tissues. It presents in early childhood with lipomas, vascular malformations (capillary, venous and lymphatic malformations), epidermal naevi and often asymmetric overgrowth of limbs and digits. Deep lines and overgrowth of soft tissues on the soles of the feet causing cerebriform thickening is also a characteristic feature ( Figs 20.15, 20.16 ).
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow in Fetal and Perinatal Skeletal Dysplasias, 2012
Synonyms: PS; gigantism, partial, of hands and feet, naevi, hemihypertrophy, and macrocephaly; hemihypertrophy, naevi, harmatomaIncidence: Probably fewer than 1 in 1 000 000Genetics: Proteus syndrome is a sporadic disorder and the clinical features are consistent with a mosaic pattern. A somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1 has been found in 26 out of 29 patients in a mosaic state. AKT1 encodes for the protein kinase AKT, or protein kinase B (PKB), which is a crucial mediator of cell proliferation and apoptosis. This finding would support the Happle somatic mosaic hypothesis, according to which autosomal lethal genes may survive only in a mosaic state, and would explain the characteristics of this syndrome. In a few cases, germline PTEN mutations have been identified, but it is unlikely that this gene might have a significant role in the aetiology of the condition. Age/gestational week of manifestation: occasionally disproportionate overgrowth is detected perinatally. In the majority of patients the clinical features develop after 6 months of age. Clinical features:variable presentation hence the name Proteus (Greek god who could change shape in order to avoid capture)disproportionate overgrowth, generalised or localised, usually marked asymmetrymacrodactyly
Proteus Syndrome: Three Case Reports with a Review of the Literature
Published in Fetal and Pediatric Pathology, 2012
Jenna L. Thomason, C.R. Abramowsky, Richard R. Rickets, John H. Culbertson, Matthew S. Clifton, Bahig M. Shehata
Proteus syndrome (PS) is a rare, progressive disorder that manifests as asymmetric, disproportionate overgrowth affecting tissues derived from any germline layer. Cases of PS from 2005–2010 were retrieved from the pathology files at our institution. Two confirmed cases and one possible case of PS were identified. All patients came from different ethnic backgrounds. Patient 1 displayed classic skin and overgrowth lesions. Patient 2 displayed various features, particularly vascular malformations. Patient 3 demonstrated a cerebriform connective tissue nevus alone. These patients demonstrate the spectrum of presentations of PS. Much is left to learn about this disfiguring disease.
Rheumatoid arthritis: proposal for the use of anti‐microbial therapy in early cases
Published in Scandinavian Journal of Rheumatology, 2003
Alan Ebringer, Taha Rashid, Clyde Wilson
Rheumatoid arthritis (RA) is a chronic disease, affecting women more than men, especially in those possessing the “shared epitope” (EQK/RRAA) amino acid sequences present in HLA‐DR1/4 molecules. Proteus mirabilis carries sequences showing molecular mimicry to the “shared epitope” and to type XI collagen of hyaline cartilage. Elevated levels of antibodies to P.mirabilis have been reported from 14 different countries involving 1375 RA patients and the microbe has been isolated from urine cultures of such patients. Our working hypothesis is that the disease develops as a result of repeated episodes of Proteus upper urinary tract infections. Prospective studies involving the trial of anti‐Proteus measures in RA patients should be evaluated in the management of this disease. Antibiotics, high fluid intake, and fruit extracts, such as cranberry juice, have all been found to be effective in the treatment of urinary tract infections. Such measures could be used as possible additional adjuncts to the standard therapy with NSAIDs and DMARDs.
HIV And HCV infection among opiate-dependent patients and methadone doses: the PROTEUS study
Published in AIDS Care, 2017
Carlos Roncero, Daniel Fuster, Raul Felipe Palma-Álvarez, Laia Rodriguez-Cintas, Nieves Martinez-Luna, F. Javier Álvarez
Human immunodeficiency virus (HIV) and hepatitis C virus (HCV) are prevalent infections in opiate-dependent patients. Opiate replacement treatment (ORT) with methadone or buprenorphine is associated with several important outcomes among patients with opiate dependence. However, little is known about outcomes in patients with HIV and/or HCV infections that are in ORT. Also, it is not well established whether the presence of HCV or HIV infection could be associated with higher methadone doses. This paper reanalyzes the database of PROTEUS study, using two principal variables: methadone dose and presence of HIV and/or HCV infection. PROTEUS recruited 621 patients (84.1% were male, mean age: 38.9 years, SD: 7.9), information about the presence of HIV in status was available for 390 patients. Of those, 134 (34.4%) were HIV-infected. Whilst, information about HCV infection was available for 377 patients. Of those, 315 (83.6%) were HCV-infected. Information on HIV/HCV coinfection was available for 376 patients, of those, 112 (29.8%) had this coinfection. HIV-infected and HIV/HCV-coinfected patients received higher methadone doses than those without these infections. Antiretroviral therapy (ART) was used in 80% of patients with HIV infection. The proportion of patients taking antiretroviral drugs was significantly higher for patients treated with higher methadone doses (p
Related Knowledge Centers
- Enterobacteriaceae
- Opportunistic Infection
- Pathogen
- Hospitals
- Long
- Term Care
- Nosocomial