Database : MEDLINE
Search on : C04.445.435.500 [DeCS Category]
References found : 348 [refine]
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  1 / 348 MEDLINE  
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PMID:28576518
Author:Salinas CR; Nuyen BA; Jafari A; Nation J
Address:School of Medicine, University of California San Diego, La Jolla, CA, USA.
Title:Refractory sleep-disordered breathing due to unilateral lingual tonsillar hypertrophy in a child with Proteus Syndrome.
Source:Int J Pediatr Otorhinolaryngol; 95:114-116, 2017 Apr.
ISSN:1872-8464
Country of publication:Ireland
Language:eng
Abstract:Proteus Syndrome (PS) is a rare congenital overgrowth disease affecting bones, skin, adipose and the central nervous system. The result is asymmetric, disfiguring hypertrophy which can manifest as craniofacial dysmorphia and aerodigestive tract abnormalities. We report the case of obstructive lingual tonsillar hypertrophy resulting in residual sleep disordered breathing after adenotonsillectomy in a child with PS, a previously unrecognized manifestation of the disease. Endoscopic treatment with coblation effectively and safely treated the obstructive symptoms.
Publication type:CASE REPORTS; JOURNAL ARTICLE


  2 / 348 MEDLINE  
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PMID:27890237
Author:Nathan N; Keppler-Noreuil KM; Biesecker LG; Moss J; Darling TN
Address:Department of Dermatology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814, USA.
Title:Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.
Source:Dermatol Clin; 35(1):51-60, 2017 Jan.
ISSN:1558-0520
Country of publication:United States
Language:eng
Abstract:Somatic mutations in genes of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway cause segmental overgrowth, hamartomas, and malignant tumors. Mosaicism for activating mutations in AKT1 or PIK3CA cause Proteus syndrome and PIK3CA-Related Overgrowth Spectrum, respectively. Postzygotic mutations in PTEN or TSC1/TSC2 cause mosaic forms of PTEN hamartoma tumor syndrome or tuberous sclerosis complex, respectively. Distinct features observed in these mosaic conditions in part reflect differences in embryological timing or tissue type harboring the mutant cells. Deep sequencing of affected tissue is useful for diagnosis. Drugs targeting mTORC1 or other points along this signaling pathway are in clinical trials to treat these disorders.
Publication type:JOURNAL ARTICLE; REVIEW
Name of substance:0 (Multiprotein Complexes); 0 (Tumor Suppressor Proteins); 0 (tuberous sclerosis complex 1 protein); 4JG2LF96VF (tuberous sclerosis complex 2 protein); EC 2.7.1.1 (TOR Serine-Threonine Kinases); EC 2.7.1.137 (Phosphatidylinositol 3-Kinase); EC 2.7.11.1 (Mechanistic Target of Rapamycin Complex 1); EC 2.7.11.1 (Proto-Oncogene Proteins c-akt); EC 3.1.3.67 (PTEN Phosphohydrolase)


  3 / 348 MEDLINE  
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PMID:28002528
Author:Damian LO; Simon SP; Felea I; Botar-Jid C; Stancu B; Rogojan L; Pamfil CA; Albu A; Rednic S
Address:Department of Rheumatology, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania; siao_2003@yahoo.com.
Title:Redundant plantar skin folds.
Source:Rom J Morphol Embryol; 57(3):1085-1088, 2016.
ISSN:1220-0522
Country of publication:Romania
Language:eng
Abstract:A 46-year-old female patient presented with photosensitivity, symmetric arthritis, episodic plantar pain and strikingly redundant plantar skin folds, likely due to lipoatrophy after recurrent episodes of plantar panniculitis. In this context, leukopenia with lymphopenia, thrombocytopenia and positive antinuclear antibodies were revelatory for systemic lupus erythematosus. However, a small cerebriform plantar collagenoma, along with discrete dysmorphic features with downslanting palpebral fissures and mild right ptosis, second and third syndactyly and a larger first right toe since childhood, and early-onset bilateral ovarian cystadenoma, suggested a minimal Proteus syndrome. Genetic confirmation could not be performed. As adipose tissue dysregulation may be a feature of Proteus syndrome, the possible mechanisms leading to localized lipoatrophy in this setting are discussed. This case enlights intriguing links between adipogenesis, inflammation and dysmorphology. From a practical point of view, finding and treating an over-imposed inflammation could help limit damage in a hamartomatous syndrome.
Publication type:CASE REPORTS; JOURNAL ARTICLE


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PMID:27874891
Author:Wu J; Wang Q; Cui P; Wu X; Yan Z
Address:Institute of Dermatology, Chinese Academy of Medical Sciences, Peking Union Medical College, Nanjing, China.
Title:Recurrent cerebriform connective tissue nevus on the foot of a patient with Proteus syndrome.
Source:Cutis; 98(4):E16-E19, 2016 Oct.
ISSN:2326-6929
Country of publication:United States
Language:eng
Publication type:CASE REPORTS; LETTER


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PMID:27607325
Author:Hagen SL; Hook KP
Address:University of Minnesota Medical School, Minneapolis, Minnesota, USA.
Title:Overgrowth syndromes with vascular malformations.
Source:Semin Cutan Med Surg; 35(3):161-9, 2016 Sep.
ISSN:1085-5629
Country of publication:United States
Language:eng
Abstract:This review provides a clinically-oriented summary of the most commonly encountered overgrowth syndromes associated with vascular malformations. This manuscript will outline morphologic features, clinical evaluation and management of this complex group of patients. Recent genetic advances have aided in classification and help to explain overlapping clinical features in many cases.
Publication type:JOURNAL ARTICLE; REVIEW
Name of substance:EC 2.7.1.- (Phosphatidylinositol 3-Kinases); EC 2.7.1.137 (Class I Phosphatidylinositol 3-Kinases); EC 2.7.1.137 (PIK3CA protein, human)


  6 / 348 MEDLINE  
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PMID:27378680
Author:Rodenbeck DL; Greyling LA; Anderson JH; Davis LS
Address:Medical College of Georgia, Augusta University, Augusta, Georgia.
Title:Early Recognition of Proteus Syndrome.
Source:Pediatr Dermatol; 33(5):e306-10, 2016 Sep.
ISSN:1525-1470
Country of publication:United States
Language:eng
Abstract:Proteus syndrome is an extremely rare mosaic condition characterized by progressive overgrowth of tissues due to a somatic activating mutation of the AKT1 gene. Distinct cutaneous features, including cerebriform connective tissue nevi, epidermal nevi, vascular malformations, and adipose abnormalities, can alert the dermatologist to the underlying condition before the onset of asymmetric skeletal overgrowth. We present a series of photographs documenting the skin and musculoskeletal changes in a patient with Proteus syndrome over the first 2 years of life to emphasize the key signs that a dermatologist can recognize to facilitate an earlier diagnosis in these patients.
Publication type:CASE REPORTS; JOURNAL ARTICLE


  7 / 348 MEDLINE  
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PMID:27112325
Author:Doucet ME; Bloomhardt HM; Moroz K; Lindhurst MJ; Biesecker LG
Address:Department of Pathology and Laboratory Medicine, Tulane University School of Medicine, New Orleans, Louisiana.
Title:Lack of mutation-histopathology correlation in a patient with Proteus syndrome.
Source:Am J Med Genet A; 170(6):1422-1432, 2016 Jun.
ISSN:1552-4833
Country of publication:United States
Language:eng
Abstract:Proteus syndrome (PS) is characterized by progressive, disproportionate, segmental overgrowth, and tumor susceptibility caused by a somatic mosaic AKT1 activating mutation. Each individual has unique manifestations making this disorder extremely heterogeneous. We correlated three variables in 38 tissue samples from a patient who died with PS: the gross affection status, the microscopic affection status, and the mutation level. The AKT1 mutation was measured using a PCR-based RFLP assay. Thirteen samples were grossly normal; six had detectable mutation (2-29%) although four of these six were histopathologically normal. Of the seven grossly normal samples that had no mutation, only four were histologically normal. The mutation level in the grossly abnormal samples was 3-35% and all but the right and left kidneys, skull, and left knee bone, with mutation levels of 19%, 15%, 26%, and 17%, respectively, had abnormal histopathology. The highest mutation level was in a toe bone sample whereas the lowest levels were in the soft tissue surrounding that toe, and an omental fat nodule. We also show here that PS overgrowth can be caused by cellular proliferation or by extracellular matrix expansion. Additionally, papillary thyroid carcinoma was identified, a tumor not previously associated with PS. We conclude that gross pathology and histopathology correlate poorly with mutation levels in PS, that overgrowth can be mediated by cellular proliferation or extracellular matrix expansion, and that papillary thyroid carcinoma is part of the tumor susceptibility of PS. New methods need to be developed to facilitate genotype-phenotype correlation in mosaic disorders. © 2016 Wiley Periodicals, Inc.
Publication type:CASE REPORTS; JOURNAL ARTICLE
Name of substance:EC 2.7.11.1 (AKT1 protein, human); EC 2.7.11.1 (Proto-Oncogene Proteins c-akt)


  8 / 348 MEDLINE  
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PMID:26872686
Author:Polubothu S; Al-Olabi L; Wilson L; Chong WK; Kinsler VA
Address:Guy's and St Thomas' NHS Foundation Trust, London, U.K. mpolubothu@gmail.com.
Title:Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome.
Source:Br J Dermatol; 175(3):612-4, 2016 Sep.
ISSN:1365-2133
Country of publication:England
Language:eng
Publication type:CASE REPORTS; LETTER
Name of substance:EC 2.7.11.1 (AKT1 protein, human); EC 2.7.11.1 (Proto-Oncogene Proteins c-akt)


  9 / 348 MEDLINE  
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PMID:26758562
Author:Lougaris V; Salpietro V; Cutrupi M; Baronio M; Moratto D; Pizzino MR; Mankad K; Briuglia S; Salpietro C; Plebani A
Address:Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Piazzale Spedali Civili 1, Brescia, 25123, Italy. vlougarisbs@yahoo.com.
Title:Proteus syndrome: evaluation of the immunological profile.
Source:Orphanet J Rare Dis; 11:3, 2016 Jan 13.
ISSN:1750-1172
Country of publication:England
Language:eng
Abstract:Proteus syndrome (PS) is an extremely rare and complex disease characterized by malformations and overgrowth of different tissues. Prognosis of affected patients may be complicated by premature death, mostly due to pulmonary embolism and respiratory failure. To date, immunological data in Proteus syndrome are scarse.We report on the novel immunologic findings of a 15 years old girl affected with PS. Detailed T and B cell evaluation revealed maturational alterations for both subsets and functional hyperactivation for the latter. Such findings have not been reported previously in PS and may be the spy of more complex immune abnormalities in this syndrome.
Publication type:CASE REPORTS; LETTER


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PMID:26657992
Author:Lindhurst MJ; Yourick MR; Yu Y; Savage RE; Ferrari D; Biesecker LG
Address:National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Title:Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome.
Source:Sci Rep; 5:17162, 2015 Dec 11.
ISSN:2045-2322
Country of publication:England
Language:eng
Abstract:A somatic activating mutation in AKT1, c.49G>A, pGlu17Lys, that results in elevated AKT signaling in mutation-positive cells, is responsible for the mosaic overgrowth condition, Proteus syndrome. ARQ 092 is an allosteric pan-AKT inhibitor under development for treatment in cancer. We tested the efficacy of this drug for suppressing AKT signaling in cells and tissues from patients with Proteus syndrome. ARQ 092 reduced phosphorylation of AKT and downstream targets of AKT in a concentration-dependent manner in as little as two hours. While AKT signaling was suppressed with ARQ 092 treatment, cells retained their ability to respond to growth factor stimulation by increasing pAKT levels proportionally to untreated cells. At concentrations sufficient to decrease AKT signaling, little reduction in cell viability was seen. These results indicate that ARQ 092 can suppress AKT signaling and warrants further development as a therapeutic option for patients with Proteus syndrome.
Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., INTRAMURAL
Name of substance:0 (ARQ 092); 0 (Aminopyridines); 0 (Imidazoles); 0 (Protein Kinase Inhibitors); 0 (Proto-Oncogene Proteins c-sis); 1B56C968OA (becaplermin); EC 2.7.11.1 (Proto-Oncogene Proteins c-akt)



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