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    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 Jun 29. 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 Jun 19. 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 PTEN 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 PTEN gene (10q23.3). PTEN 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 Dec 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

    RHEGMATOGENOUS RETINAL DETACHMENT: A RARE OCULAR MANIFESTATION OF PROTEUS SYNDROME.
    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

    A Case of Purple Urine Bag Syndrome in a Spastic Partial Quadriplegic Male.
    Cureus 2016 Apr 1;8(4):e552. Epub 2016 Apr 1.
    Department of Medicine, School of Medicine, University of Missouri Kansas City.
    Purple bag urine syndrome (PUBS) is a benign and unique phenomenon of the urine turning a deep violet color within the urinary catheter tubing and bag. This phenomenon is commonly encountered in patients indicated with long-term catheter placement or, in certain conditions like chronic constipation, alkaline urine, limited ambulation, and, in terms of gender distribution, the female sex, predominates. PUBS gets its name from a unique phenomenon that takes places inside the gut where tryptophan (an amino acid) is metabolized, producing blue and red hues which together emanate a deep violet color. Read More

    Lack of mutation-histopathology correlation in a patient with Proteus syndrome.
    Am J Med Genet A 2016 Jun 26;170(6):1422-1432. Epub 2016 Apr 26.
    Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.
    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. Read More

    Acquired lymphangiectasia (lymphangioma circumscriptum) of the vulva: Clinicopathologic study of 11 patients from a single institution and 67 from the literature.
    Int J Dermatol 2016 Sep 9;55(9):e482-7. Epub 2016 Mar 9.
    Department of Dermatology, Mayo Clinic, Rochester, MN, USA.
    Background: Acquired lymphangiectasia of the vulva (ALV) is a rare condition thought to be secondary to pelvic lymphatic obstruction. Although benign, this entity often occurs after previous malignancy and can be confused with conditions such as genital warts. We sought to clarify the clinicopathologic features of ALV by studying affected patients from our institution and from the existing literature. Read More

    Proteus syndrome: evaluation of the immunological profile.
    Orphanet J Rare Dis 2016 Jan 13;11. Epub 2016 Jan 13.
    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.
    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. Read More

    Mosaic Neurocutaneous Disorders and Their Causes.
    Semin Pediatr Neurol 2015 Dec 12;22(4):207-33. Epub 2015 Nov 12.
    Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
    Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]. Read More

    Breast cancer risk and clinical implications for germline PTEN mutation carriers.
    Breast Cancer Res Treat 2017 Aug 23;165(1):1-8. Epub 2015 Dec 23.
    Cleveland Clinic, Genomic Medicine Institute, 9500 Euclid Avenue, NE-50, Cleveland, OH, 44195, USA.
    PTEN Hamartoma Tumor syndrome (PHTS) encompasses a clinical spectrum of heritable disorders including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, and Proteus and Proteus-like syndrome that are associated with germline mutations in the PTEN tumor suppressor gene. Breast cancer risk estimates (67-85 %) for women with germline PTEN mutations are similar to those quoted for patients with germline mutations in the BRCA1/2 genes. With PTEN on several germline gene testing panels, finding PTEN mutations and variants have increased exponentially. Read More

    Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome.
    Sci Rep 2015 Dec 11;5:17162. Epub 2015 Dec 11.
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    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. Read More

    Epidermal nevus syndromes.
    Handb Clin Neurol 2015 ;132:291-316
    Departments of Dermatology and Community and Family Medicine, University of California San Francisco, Santa Rosa, CA, USA. Electronic address:
    The term epidermal nevus syndrome (ENS) has been used to describe the association of epidermal hamartomas and extracutaneous abnormalities. Although many continue to use the term "ENS," it is now understood that this is not one disease, but rather a heterogeneous group with distinct genetic profiles defined by a common cutaneous phenotype: the presence of epidermal and adnexal hamartomas that are associated with other organ system involvement. One commonality is that epidermal nevi often follow the lines of Blaschko and it appears the more widespread the cutaneous manifestations, the greater the risk for extracutaneous manifestations. Read More

    Phenotype/genotype correlations in epidermal nevus syndrome as a neurocristopathy.
    Handb Clin Neurol 2015 ;132:9-25
    Departments of Paediatrics, Pathology (Neuropathology) and Clinical Neurosciences, Calgary, Alberta, Canada.
    Epidermal nevus syndrome (ENS) is a term that encompasses several phenotypes defined by the association of an epidermal nevus with one or more congenital systemic anomalies, mainly ocular, osseous and cerebral. The two most frequent, keratinocytic nevus syndrome and linear sebaceous nevus syndrome, also correspond to the neurological phenotypes. They both exhibit overlapping and distinctive features but same etiology: post-zygotic mosaic mutations in RAS genes. Read More

    Endometrioid Paraovarian Borderline Cystic Tumor in an Infant with Proteus Syndrome.
    Case Rep Oncol Med 2015 19;2015:392576. Epub 2015 Oct 19.
    Department of Pathology, Rebagliati Hospital, Lima, Peru.
    Ovarian and paraovarian neoplasms are uncommon in children, mainly originating from germ cell tumors and, least frequently, epithelial tumors. There is an association between genital tract tumors and Proteus syndrome, a rare, sporadic, and progressive entity, characterized by a postnatal overgrowth in several tissues caused by a mosaic mutation in the AKT1 gene. We describe a 20-month-old asymptomatic infant with Proteus syndrome who developed an endometrioid paraovarian borderline cystic tumor. Read More

    Unilateral hypertrophic skin lesions, hemimegalencephaly, and meningioma: The many faces of Proteus syndrome.
    Indian Dermatol Online J 2015 Sep-Oct;6(5):348-51
    Department of Dermatology, ESI-Post Graduate Institute of Medical Sciences and Research (PGIMSR), ESI Medical College and Hospital, Kolkata, West Bengal, India.
    Proteus syndrome is a rare condition with a wide spectrum of abnormalities. It is characterized by hamartomatous malformations involving multiple organs. Serious complications may ensue, such as pulmonary embolism, cystic lung disease, and various neoplasms such as parotid adenomas, ovarian cystadenomas, and meningiomas. Read More

    The categories of cutaneous mosaicism: A proposed classification.
    Am J Med Genet A 2016 Feb 22;170A(2):452-9. Epub 2015 Oct 22.
    Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.
    Mosaic disorders can most easily be studied in the skin. This article presents a comprehensive overview of the different forms of cutaneous mosaicism. Major categories are genomic versus epigenetic mosaicism and nonsegmental versus segmental mosaicism. Read More

    Leg for life? The use of sartorius muscle flap for the treatment of an infected vascular reconstructions after VA-ECMO use. A case report.
    Int J Surg Case Rep 2015 16;16:25-8. Epub 2015 Sep 16.
    Victor Babeș University of Medicine and Pharmacy, Piaţa Eftimie Murgu Nr. 2, Timisoara 300041, Romania. Electronic address:
    Introduction: Veno-arterial extracorporeal membrane oxygenation (VA-ECMO(1)) systems are a life-saving option in the treatment of acute respiratory distress syndrome (ARDS(2)), but may be encumbered by severe vascular complications in the groin.

    Presentation Of Case: A pregnant woman was admitted with respiratory failure due to H1N1 influenza. VA-ECMO was inserted percutaneously by the intensivists and then accidentally removed by the patient after 8 days. Read More

    Orthopaedic manifestations of Proteus syndrome in a child with literature update.
    Bone Rep 2015 Dec 26;3:104-108. Epub 2015 Sep 26.
    Division of Paediatric Rehabilitation, Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Ain-Shams University, 38 Abbasia Cairo, Egypt.
    Background: Proteus syndrome is a rare developmental disorder of unknown aetiology. It is a disorder characterized by postnatal overgrowth affecting multiple tissues. Proteus syndrome is most frequently manifested in skeletal changes. Read More

    A Paratesticular Serous Borderline Tumor in a Pediatric Patient With Proteus Syndrome.
    Urology 2015 Dec 11;86(6):1218-21. Epub 2015 Sep 11.
    Department of Surgery, Section of Urology, Medical College of Georgia - Georgia Regents University, Augusta, GA.
    Proteus syndrome is a rare disorder of asymmetric overgrowth of various tissues of the body and is associated with specific tumors appearing before the second decade. Although there have been reports of lesions of the genitourinary tract associated with Proteus syndrome, a case of serous borderline tumor of the paratestis has not been previously recorded. We report the first such case in a 20-month-old child who presented with a left-sided testicular mass that was found on histology to be a serous borderline tumor of the paratestis. Read More

    Brentuximab vedotin in the treatment of a patient with refractory Hodgkin disease and Proteus syndrome - a case report and discussion.
    Clin Case Rep 2015 Jul 11;3(7):646-9. Epub 2015 Jun 11.
    Federal Center for Pediatric Hematology, Oncology and Immunology, Named by D. Rogachev Moscow, Russia.
    Treatment of patients with refractory Hodgkin lymphoma is a significant issue. We report a patient with Proteus syndrome and relapsed Hodgkin lymphoma, whose remission was finally achieved after brentuximab vedotin therapy, allowing her to receive a haploidentical stem cell transplant. The possible relationship between both disorders was discussed. Read More

    Island nail flap in the treatment of foot macrodactyly of the first ray in children: report of two cases.
    J Child Orthop 2015 Aug 4;9(4):281-5. Epub 2015 Aug 4.
    Department of Trauma and Orthopedic Surgery, Pediatric Orthopedic Unit, Hospital Virgen del Rocío, Avenida Manuel Siurot s/n, 41013, Seville, Spain,
    Purpose: We evaluated the result of a combined single-stage surgery in the treatment of first ray macrodactyly in children.

    Introduction: Macrodactyly is a rare congenital abnormality that involves thickening of both the soft tissue and bone of the affected digits. It is more frequent in fingers than toes, where there is less neural involvement. Read More

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