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Anais Brasileiros de Dermatologia, 2017 : Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most ...
Ritha de Cássia Capelato Rocha +4 more
doaj +5 more sources
Precapillary pulmonary arterial hypertension in a patient with Proteus syndrome [PDF]
Pulmonary Circulation, 2022 Proteus syndrome is a rare progressive multisystem disorder characterized by asymmetric, disproportionate overgrowth of bone, skin, and other tissue types. Molecular pathogenesis has been identified as somatic activating mutations of the AKT1 gene.
Akash Mathavan +5 more
doaj +2 more sources
Proteus Syndrome: A Rare Case in An Adult Ward [PDF]
European Journal of Case Reports in Internal Medicine, 2021 Proteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue, such as bone, fat or epidermal nevi, in a mosaic or patchy pattern.
Catarina Duarte Santos +6 more
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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
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
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
Anaesthesia for Proteus syndrome [PDF]
Anaesthesia, 1991 Summary A 14‐year‐old boy with Proteus syndrome presented for orthopaedic surgery to his legs. No report in the literature exists on anaesthesia for this condition. Our patient posed airway problems that were managed by tracheal intubation under sedation using a fibreoptic bronchoscope.
J H, Pennant, M F, Harris
exaly +3 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