Sinonasal Neuroendocrine Carcinoma in Adult Proteus Syndrome [PDF]
Iranian Journal of Otorhinolaryngology, 2023 Introduction:Proteus syndrome (PS) is a rare genetic disorder usually caused by mutations in AKT1 or PTEN genes, characterized by multiple, asymmetric tissue overgrowth with high clinical variability.
Giorgos Sideris +5 more
doaj +2 more sources
Pulmonary Involvement in Proteus Syndrome: Clinical and Imaging Correlates in a Rare Case [PDF]
Case Reports in RadiologyProteus syndrome is an uncommon, sporadic disorder characterized by progressive and heterogeneous overgrowth of tissues, resulting in distorted and asymmetric development.
Cody Reid Johnson +2 more
doaj +2 more sources
Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Clinical outcome assessments are important tools for measuring the natural history of disease and efficacy of an intervention. The heterogenous phenotype and difficult to quantity features of Proteus syndrome present challenges to measuring ...
Christopher A. Ours +4 more
doaj +2 more sources
Proteus syndrome with progressive paralysis of the unilateral lower limb: A rare case report and literature review [PDF]
HeliyonObjective: Proteus syndrome, a rare disorder with an incidence of one in a million, is characterized by connective tissue nevi, asymmetric limb overgrowth, and abnormal subcutaneous adipose tissue distribution.
Feng Cai +9 more
doaj +2 more sources
Cardiothoracic imaging findings of Proteus syndrome [PDF]
Scientific Reports, 2021 In this work, we sought to delineate the prevalence of cardiothoracic imaging findings of Proteus syndrome in a large cohort at our institution. Of 53 individuals with a confirmed diagnosis of Proteus syndrome at our institution from 10/2001 to 10/2019 ...
S. Mojdeh Mirmomen +6 more
doaj +2 more sources
Safety findings from the phase 1/2 MOSAIC study of miransertib for patients with PIK3CA-related overgrowth spectrum or Proteus syndrome [PDF]
Orphanet Journal of Rare DiseasesBackground PIK3CA-related overgrowth spectrum (PROS) and Proteus syndrome are associated with mosaic tissue overgrowth of varying severity that commonly presents in childhood. The multicenter, open-label, phase 1/2 MOSAIC study (NCT03094832) was designed
Whitney Eng +12 more
doaj +2 more sources
Quantification of Proteus syndrome-associated lung disease [PDF]
Orphanet Journal of Rare DiseasesBackground Proteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can develop emphysematous and cystic changes of the lung that may lead to progressive respiratory symptoms and require surgical intervention.
Christopher A. Ours +6 more
doaj +2 more sources
A case report of Proteus syndrome (PS) [PDF]
BMC Medical Genetics, 2020 Background Proteus syndrome (PS) is an extremely rare disease characterized by excessive chimeric growth of cells, and progressive and irregular asymmetrical hyperplasia.
Xiaoyun Zeng +4 more
doaj +2 more sources
Acne following Blaschko's lines in Proteus syndrome [PDF]
JAAD Case Reports, 2020 Alexander M. Cartron, BS +4 more
doaj +2 more sources
Indian Journal of Dermatology, Venereology and Leprology, 2005 Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.
Basanti, Debi +3 more
openaire +2 more sources