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    721 results match your criteria Proteus Syndrome

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    Case Report: "Incognito" proteus syndrome.
    F1000Res 2018 26;7:228. Epub 2018 Feb 26.
    Section of Dermatology, Department of Biomedical Sciences and Clinical Oncology, University of Bari, Bari, 70124, Italy.
    Proteus syndrome (PS) is a postnatal mosaic overgrowth disorder, progressive and disfiguring. It is clinically diagnosed according to the criteria reported by Biesecker . We describe the case of a 49-year-old woman who presented with a 10-year history of pauci-symptomatic infiltrating plaque lesions on the sole and lateral margin of the left foot, which had been diagnosed as a keloid. Read More

    One gene - many endocrine and metabolic syndromes: PTEN-opathies and precision medicine.
    Endocr Relat Cancer 2018 May 23. Epub 2018 May 23.
    C Eng, Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, 44195, United States
    An average of 10% of all cancers (range 1-40%) are caused by heritable mutations and over the years, have become powerful models for precision medicine practice. Furthermore, such cancer predisposition genes for seemingly rare syndromes have turned out to help explain mechanisms of sporadic carcinogenesis and often inform normal development. The tumor suppressor PTEN encodes a ubiquitously expressed phosphatase that counteracts the PI3K/AKT/mTOR cascade - one of the most critical growth-promoting signaling pathways. Read More

    Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome.
    Am J Med Genet A 2018 May;176(5):1222-1224
    Department of Pediatrics, University of Yamanashi, Yamanashi, Japan.
    Proteus syndrome (PS) is characterized by the progressive, segmental, or patchy overgrowth of the skin, and other tissues. This is the first case report of recurrent severe insulin-independent hypoglycemia in an infant with PS. Somatic p. Read More

    [New nosological and therapeutic perspectives in syndromic vascular malformations with a vein-lymphatic component].
    Rev Med Interne 2018 Apr 4. Epub 2018 Apr 4.
    Service de médecine vasculaire, centre de référence des maladies vasculaires rares, hôpital Saint-Éloi, CHRU de Montpellier, 34090 Montpellier, France; Centre de référence des maladies vasculaires rares, CHRU de Montpellier, 34090 Montpellier, France; EA 2992, caractéristiques féminines des dysfonctions des interfaces vasculaires, université de Montpellier et Nîmes, 30908 Nîmes, France; Inserm CIC 1001, centre d'investigation clinique, université de Montpellier et Nîmes, 34295 Montpellier, France.
    Vascular malformations are poorly recognized constitutional anomalies which arises during early childhood. Several classifications tried to draw a distinction across the different entities. Recent advances in molecular biology have contributed to the update of their nosology. Read More

    In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
    Neurogenetics 2018 May 16;19(2):77-91. Epub 2018 Mar 16.
    Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari "Aldo Moro", Piazza G. Cesare, 11, Bari, Italy.
    Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate the PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue overgrowth that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use in these patients. PROS patients could be ideal candidates for enrolment in trials with PI3K/AKT pathway inhibitors, considering the "clean" cellular setting in which a unique driver, a PIK3CA mutation, is present. Read More

    Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.
    Epileptic Disord 2018 Feb;20(1):30-34
    Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, USA.
    Hemimegalencephaly is known to occur in Proteus syndrome, but has not been reported, to our knowledge, in the other PTEN mutation-related syndrome of Bannayan-Riley-Ruvalcaba. Here, we report a patient with Bannayan-Riley-Ruvalcaba syndrome who also had hemimegalencephaly and in whom the hemimegalencephaly was evident well before presentation of the characteristic manifestations of Bannayan-Riley-Ruvalcaba syndrome. An 11-year-old boy developed drug-resistant focal seizures on the fifth day of life. Read More

    Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes.
    Am J Med Genet A 2018 Mar 1;176(3):515-550. Epub 2018 Feb 1.
    National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
    The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C. Read More

    Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome: A Case Series.
    J Pediatr Orthop 2018 Mar;38(3):e138-e144
    Children's National Health System, NW, Washington, DC.
    Introduction: Proteus syndrome (PS) is a rare mosaic disorder comprising asymmetric bony and soft tissue overgrowth leading to significant morbidity. Placement of growth inhibition hardware with subsequent epiphyseal arrest improves leg-length and angular deformities in pediatric patients without PS. The purpose of this study was to review the surgical approach and present outcomes, complications, and recommendations in 8 patients with PS and leg-length discrepancy (LLD). Read More

    Proteus syndrome.
    An Bras Dermatol 2017 Sep-Oct;92(5):717-720
    Department of Dermatology at Hospital Regional de Presidente Prudente - Universidade do Oeste Paulista (UNOESTE) - Presidente Prudente (SP), Brazil.
    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 patients, and is the main characteristic of the syndrome. If present, even alone, they can be considered as a pathognomonic sign. Read More

    Boerhaave's syndrome complicated by a Saccharomyces cerevisiae pleural empyema. Case report and review of the literature.
    Acta Clin Belg 2017 Nov 5:1-5. Epub 2017 Nov 5.
    a Department of Intensive Care Medicine , Antwerp University Hospital, University of Antwerp , Edegem (Antwerp) , Belgium.
    Objective and Importance Boerhaave's syndrome is a sudden and rare form of oesophageal rupture and is often complicated by local or systemic infection of the mediastinum or pleural cavity. Several micro-organisms are documented as cause of pleural empyema in patients with Boerhaave's syndrome. Intervention (& Technique) We report on a previously healthy 74-year-old male who was admitted at a regional hospital with severe retrosternal and abdominal pain after an episode of vigorous vomiting the morning after ingestion of large quantity of beer. Read More

    Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome.
    J Am Acad Dermatol 2018 Apr 16;78(4):725-732. Epub 2017 Oct 16.
    Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland. Electronic address:
    Background: The plantar cerebriform connective tissue nevus (CCTN) is the most common and problematic cutaneous manifestation of Proteus syndrome.

    Objective: To gain insights into CCTN pathogenesis and natural history.

    Methods: The size and location of plantar CCTN was measured on 152 images from 22 individuals with Proteus syndrome by 2 independent, blinded reviewers. Read More

    Proteus Syndrome With a Cranial Intraosseous Lipoma.
    J Craniofac Surg 2017 Nov;28(8):e771-e773
    *Division of Plastic and Reconstructive Surgery, Keck School of Medicine at University of Southern California, Los Angeles, CA †Division of Plastic Surgery, New York Presbyterian Hospital-Columbia University Medical Center, New York, NY ‡Division of Neurosurgery, Children's Hospital Los Angeles §Department of Neurological Surgery ||Department of Pathology and Pediatrics, Keck School of Medicine ¶Center for Craniofacial Molecular Biology, University of Southern California #Division of Genomic Medicine, Center for Personalized Medicine **Division of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA.
    Intraosseous lipomas are almost exclusively seen in the long bones. Presence in the craniofacial skeleton is extremely rare. A 7-year-old male is presented with a marked craniofacial deformation from a bony tumor containing an intraosseous lipoma. Read More

    Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations.
    Pediatr Radiol 2017 Aug 4;47(9):1196-1208. Epub 2017 Aug 4.
    Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Ave., Toronto, ON, M5G 1X8, Canada.
    Vascular malformations are a heterogeneous group of entities, many of which present in the pediatric age group. Sonography plays a major role in the management of children with these vascular anomalies by providing information that helps in diagnosing them, in assessing lesion extent and complications, and in monitoring response to therapy. The interpretation of sonographic findings requires correlation with clinical findings, some of which can be easily obtained at the time of scanning. Read More

    Quantifying survival in patients with Proteus syndrome.
    Genet Med 2017 Dec 29;19(12):1376-1379. Epub 2017 Jun 29.
    National Human Genome Research Institute, Bethesda, Maryland, USA.
    PurposeProteus syndrome is a rare mosaic overgrowth disorder that is associated with severe complications. While anecdotal data have suggested that the life span of affected patients is reduced, this has not been measured. Mortality data on rare diseases is critical for assessing treatments and other interventions. Read More

    Characterization of thrombosis in patients with Proteus syndrome.
    Am J Med Genet A 2017 Sep 19;173(9):2359-2365. Epub 2017 Jun 19.
    Medical Genomics Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
    Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis. Read More

    In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy.
    PLoS One 2017 5;12(6):e0178905. Epub 2017 Jun 5.
    Department of Medicine, Division of Cardiology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, United States of America.
    Noonan Syndrome with Multiple Lentigines (NSML, formerly LEOPARD syndrome) is an autosomal dominant "RASopathy" disorder manifesting in congenital heart disease. Most cases of NSML are caused by catalytically inactivating mutations in the protein tyrosine phosphatase (PTP), non-receptor type 11 (PTPN11), encoding the SH2 domain-containing PTP-2 (SHP2) protein. We previously generated knock-in mice harboring the PTPN11 mutation Y279C, one of the most common NSML alleles; these now-termed SHP2Y279C/+ mice recapitulate the human disorder and develop hypertrophic cardiomyopathy (HCM) by 12 weeks of age. Read More

    Refractory sleep-disordered breathing due to unilateral lingual tonsillar hypertrophy in a child with Proteus Syndrome.
    Int J Pediatr Otorhinolaryngol 2017 Apr 14;95:114-116. Epub 2017 Feb 14.
    School of Medicine, University of California San Diego, La Jolla, CA, USA; Department of Surgery, Division of Otolaryngology-Head & Neck Surgery, University of California San Diego, San Diego, CA, USA; Department of Otolaryngology, Rady Children's Hospital San Diego, University of California San Diego, San Diego, CA, USA. Electronic address:
    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. Read More

    Proteus Syndrome with Neurological Manifestations: A Rare Presentation.
    J Pediatr Neurosci 2017 Jan-Mar;12(1):109-111
    Department of Pediatrics, Sawai Man Singh Medical College, Jaipur, Rajasthan, India.
    Proteus syndrome (PS) is an extremely rare and complex disorder. Approximately 200 cases have been reported, and it seems to affect people of all ethnic and racial groups. PS is characterized by segmental overgrowth of multiple tissues and organs including vascular malformations, lipomatous overgrowth, hyperpigmentation, and various types of nevi. Read More

    De Novo Mutation in a Young Boy with Cutaneous Vasculitis.
    Case Rep Pediatr 2017 24;2017:9682803. Epub 2017 Apr 24.
    Infection, Inflammation, and Rheumatology Section, UCL Great Ormond Street Institute of Child Health, London, UK.
    Phosphatase and tensin homolog (PTEN) is the protein encoded by the gene (10q23.3). mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and Proteus-like syndrome. Read More

    Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
    J Mol Diagn 2017 Jul 11;19(4):487-497. Epub 2017 May 11.
    Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:
    Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, and megalencephalyepolymicrogyria-polydactyly-hydrocephalus syndrome. Read More

    Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
    J Mol Diagn 2017 Jul 11;19(4):613-624. Epub 2017 May 11.
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. Electronic address:
    Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. Because of the low-abundance nature of these variants, Sanger sequencing often yields negative results. We have developed and validated a next-generation sequencing (NGS) panel that targets all known variants associated with these syndromes. Read More

    A case controlled study examining the bladder microbiome in women with Overactive Bladder (OAB) and healthy controls.
    Eur J Obstet Gynecol Reprod Biol 2017 Jul 23;214:31-35. Epub 2017 Apr 23.
    Department of Obstetrics and Gynaecology, Medway Maritime Hospital, Gillingham, Kent, ME7 5NY, UK. Electronic address:
    Objective: To characterise the microbiome in healthy women with no bladder symptoms and to compare this to the bladder microbiome in patients with overactive bladder syndrome (OAB).

    Study Design: MSU specimens from 63 women with OAB were compared to urine from 35 controls. Urine was centrifuged and the resulting sediment pellet was re-suspended in supernatant and plated under aerobic conditions for 48h and anaerobic conditions for 7days. Read More

    Proteus syndrome: A case report and review of the literature.
    Mol Clin Oncol 2017 Mar 23;6(3):381-383. Epub 2017 Jan 23.
    Clinical Medical Research Center of Shenzhen People's Hospital, The Second Clinical Medical College, Jinan University, Shenzhen, Guangdong 518020, P.R. China.
    Proteus syndrome is a rare complex syndrome involving clinical presentation with atypical skeletal growth. Only a limited number of cases with this syndrome have been reported in the literature to date. We herein report the case of a Chinese male patient with Proteus syndrome and review the clinical and molecular characteristics of this disease. Read More

    Proteus Syndrome with Arteriovenous Malformation.
    Adv Biomed Res 2017 7;6:27. Epub 2017 Mar 7.
    Department of Dermatology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
    Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. Read More

    A Rare Case of Diffuse Hemangiomatosis of the Spleen with Splenic Rupture following Aortic Valve Replacement.
    Case Rep Radiol 2017 12;2017:9164749. Epub 2017 Jan 12.
    Department of Radiology, Section of Cardiovascular Radiology, University Hospital Freiburg, Freiburg, Germany.
    In this paper we present a rare case of splenic rupture that occurred after an open aortic valve replacement in a male patient with hemangiomatosis of the spleen and the liver. The patient was treated with an emergency splenectomy. He showed no other sings of associated systemic disorder, such as Klippel-trénaunay syndrome or Proteus syndrome. Read More

    Redundant plantar skin folds.
    Rom J Morphol Embryol 2016 ;57(3):1085-1088
    Department of Rheumatology, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania;
    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. Read More

    Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.
    Dermatol Clin 2017 Jan;35(1):51-60
    Department of Dermatology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814, USA. Electronic address:
    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. Read More

    Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.
    Am J Med Genet C Semin Med Genet 2016 12 18;172(4):402-421. Epub 2016 Nov 18.
    The phosphatidylinositol-3-kinase (PI3K)/AKT/mTOR signaling pathway plays an essential role in regulation of normal cell growth, metabolism, and survival. Somatic activating mutations in the PI3K/AKT/mTOR pathway are among the most common mutations identified in cancer, and have been shown to cause a spectrum of overgrowth syndromes including PIK3CA-Related Overgrowth Spectrum, Proteus syndrome, and brain overgrowth conditions. Clinical findings in these disorders may be isolated or multiple, including sporadic or mosaic overgrowth (adipose, skeletal, muscle, brain, vascular, or lymphatic), and skin abnormalities (including epidermal nevi, hyper-, and hypopigmented lesions), and have the potential risk of tumorigenesis. Read More

    Propensity score-matched analysis comparing the therapeutic efficacies of cefazolin and extended-spectrum cephalosporins as appropriate empirical therapy in adults with community-onset Escherichia coli, Klebsiella spp. and Proteus mirabilis bacteraemia.
    Int J Antimicrob Agents 2016 Dec 26;48(6):712-718. Epub 2016 Oct 26.
    Department of Medicine, College of Medicine, National Cheng Kung University, Tainan 70403, Taiwan; Department of Internal Medicine and Center of Infection Control, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 70403, Taiwan; Division of Critical Care Medicine, Department of Internal Medicine, Madou Sin-Lau Hospital, Tainan 72152, Taiwan; Graduate Institute of Medical Sciences, College of Health Sciences, Chang Jung Christian University, Tainan 71101, Taiwan. Electronic address:
    In this study, the therapeutic efficacy of cefazolin was compared with that of extended-spectrum cephalosporins (ESCs) (cefotaxime, ceftriaxone and ceftazidime) as appropriate empirical therapy in adults with community-onset monomicrobial bacteraemia caused by Escherichia coli, Klebsiella spp. or Proteus mirabilis (EKP). Compared with cefazolin-treated patients (n = 135), significantly higher proportions of patients in the ESC treatment group (n = 456) had critical illness at bacteraemia onset (Pitt bacteraemia score ≥4) and fatal co-morbidities (McCabe classification). Read More

    Proteus Syndrome.
    J Assoc Physicians India 2016 May;64(5):69-71S
    Senior Resident, Department of General Medicine, Pt. BDS UHS, Rohtak.
    Proteus syndrome is an extremely rare disorder with a documentation of only 100 cases world over till date. This sporadic disorder involves the skeletal system, central nervous system, eyes, skin, soft tissues and vascular system. We report a case of Proteus syndrome in a 22 year male presenting with abnormally enlarged and hypertrophied feet resulting in marked physical constraints. Read More

    Bronchoscopic concerns in Proteus syndrome: a case report.
    Korean J Anesthesiol 2016 Oct 25;69(5):523-526. Epub 2016 Jul 25.
    Department of Anesthesia and Pain Medicine, Pusan National University Hospital, Busan, Korea.; Department of Anesthesia and Pain Medicine, Pusan National University Hospital, Busan, Korea.
    Proteus syndrome (PS) is a rare congenital hamartomatous disorder with multisystem involvement. PS shows highly clinical variability due to overgrowth of the affected areas, and several features can make anesthetic management challenging. Little is known about the airway problem associated with anesthesia in PS patients. Read More

    Treatment of Atypical Compartment Syndrome Due to Proteus Infection.
    Orthopedics 2017 Jan 30;40(1):e176-e178. Epub 2016 Sep 30.
    Compartment syndrome is an orthopedic emergency with a multitude of etiologies. Although it is most commonly associated with trauma to the extremity, hematoma and infection are 2 rare etiologies of insidious compartment syndrome. Proteus mirabilis is an opportunistic gram-negative species that can infect the respiratory tract, urinary tract, and open wounds. Read More

    Neurocutaneous Manifestations of Genetic Mosaicism.
    J Pediatr Genet 2015 Sep 30;4(3):144-53. Epub 2015 Nov 30.
    Division of Cancer Science, School of Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, United Kingdom; Institute of Medical Biology, ASTAR, Singapore.
    Genetic mosaicism is defined as the presence of two or more genetically distinct cell populations in a single individual. Ever more disorders are found to be manifestations of mosaicism and together constitute a significant proportion of the morbidity confronting pediatric specialists. An emerging category is that of overgrowth syndromes with skin manifestations and neurological or developmental abnormalities, such as the well-known Proteus syndrome. Read More

    Overgrowth Syndromes.
    J Pediatr Genet 2015 Sep 25;4(3):136-43. Epub 2015 Sep 25.
    Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
    Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall-Smith, Weaver, Simpson-Golabi-Behmel, Perlman, Bannayan-Riley-Ruvalcaba, PI3K-related, Proteus, Beckwith-Wiedemann, fibrous dysplasia, Klippel-Trenaunay-Weber, and Maffucci. Read More

    Overgrowth syndromes with vascular malformations.
    Semin Cutan Med Surg 2016 Sep;35(3):161-9
    Departments of Dermatology and Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
    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. Read More

    Genetic basis for vascular anomalies.
    Semin Cutan Med Surg 2016 Sep;35(3):128-36
    Johns Hopkins School of Medicine, Department of Dermatology, Baltimore, Maryland, USA.
    The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome. Read More

    Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis.
    Am J Med Genet A 2016 Oct 23;170(10):2605-10. Epub 2016 Aug 23.
    Medical Genomics and Metabolic Genetics Branch, National Human Genetics Research Branch, National Institutes of Health, Bethesda, Maryland.
    Somatic genetic mutations in meningiomas are associated with histologic subtypes, anatomical location, and grade. Concomitant hyperostosis occurs with some meningiomas and the pathogenesis is not well understood. Cranial hyperostosis and meningiomas are common in patients with Proteus syndrome, which is caused by a somatic activating mutation in AKT1 c. Read More

    CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).
    Clin Genet 2017 Jan 3;91(1):14-21. Epub 2016 Aug 3.
    Dermatology Unit, Complejo Hospitalario Universitario, Granada, Spain.
    Overgrowth syndromes are characterized by global or localized disproportionate growth associated with other anomalies, including vascular malformations and neurological and/or visceral disorders. CLOVES (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal naevi, Scoliosis/Skeletal and spinal anomalies) is an overgrowth syndrome caused by mosaic activating mutation in gene PIK3CA, which gives rise to abnormal PI3K-AKT-mTOR pathway activation. These mutations are responsible for the clinical manifestations of the syndrome, which include low- and high-flow vascular malformations, thoracic lipomatous hyperplasia, asymmetric growth, and visceral and neurological disorders. Read More

    Early Recognition of Proteus Syndrome.
    Pediatr Dermatol 2016 Sep 4;33(5):e306-10. Epub 2016 Jul 4.
    Division of Dermatology, Augusta University, Augusta, Georgia.
    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. Read More

    Hemispherectomy Procedure in Proteus Syndrome.
    Iran J Child Neurol 2016 ;10(3):86-90
    Airlangga University College of Medicine, Jl. Prof DrMoestopo, 6-8 Surabaya, Indonesia.
    Objective Proteus syndrome is a rare overgrowth disorder including bone, soft tissue, and skin. Central nervous system manifestations were reported in about 40% of the patients including hemimegalencephaly and the resultant hemicranial hyperplasia, convulsions and mental deficiency. We report a 1-month-old male baby referred to Pediatric Neurology Clinic Soetomo Hospital, Surabaya, Indonesia in 2014 presented recurrent seizures since birth with asymmetric dysmorphic face with the right side larger than the left, subcutaneous mass and linear nevi. Read More

    Retin Cases Brief Rep 2017 Summer;11(3):283-285
    Department of Ophthalmology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
    Purpose: To present a case report of a rare ocular manifestation of Proteus syndrome-rhegmatogenous retinal detachment.

    Methods: Retrospective review of the patient's medical record and a review of the literature.

    Results: A 16-year-old boy with Proteus syndrome who presented with a total retinal detachment because of an operculated retinal tear. Read More

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