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    694 results match your criteria Proteus Syndrome

    1 OF 14

    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

    Retin Cases Brief Rep 2016 Jun 9. Epub 2016 Jun 9.
    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):1422-32. 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 2015 Dec 23. 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

    Purple urine bag syndrome in an elderly patient from Colombia.
    J Infect Dev Ctries 2015 Jul 30;9(7):792-5. Epub 2015 Jul 30.
    Grupo infección e Inmunidad, Facultad de Ciencias de la Salud, Universidad Tecnológica de Pereira, Pereira, Colombia.
    A 71-year-old woman in a nursing home, with indwelling urinary catheter, bedridden, presented with a purple urine collector bag. The purple urine bag syndrome is a rare condition associated with the metabolism of tryptophan by overgrowth of intestinal bacteria. The purple color is formed by a combination of indigo and indirubin produced as a result of phosphatase and sulfatase enzymatic activity of bacteria on indoxyl sulfate, under alkaline pH of the urine. Read More

    Epithelial Tumors of the Ovary in Children and Teenagers: A Prospective Study from the Italian TREP Project.
    J Pediatr Adolesc Gynecol 2015 Dec 29;28(6):441-6. Epub 2014 Dec 29.
    Pediatric Surgery, Department of Women's and Children's Health, University-Hospital of Padua, Padua, Italy.
    Study Objective: To report the clinical findings and treatment results of a series of patients with epithelial tumors of the ovary, registered and treated prospectively in a multi-institutional Italian network (TREP project) on rare tumors in children and adolescent between 2000 and 2014.

    Design, Setting, And Participants: Data on 16 patients, aged 22 to 206 months, from 7 centers were reviewed. All patients were grouped on the basis of the results of the first surgical approach, according to the Children Oncology Group staging system. Read More

    Operative Management of OSAS in a Complex Case of Proteus Syndrome.
    Case Rep Otolaryngol 2015 23;2015:137589. Epub 2015 Jun 23.
    Department of Neuroscience, Reproductive and Odontostomatologic Science, Section of ENT, "Federico II" University, 80131 Naples, Italy.
    Obstructive sleep apnea syndrome (OSAS) is a common disorder in childhood with high prevalence in syndromic subjects with craniofacial malformations. Proteus Syndrome (PS) is a rare hamartoneoplastic disorder associated with disproportionate and asymmetric overgrowth of body parts and hypertrophy or malformation of lymphatic tissues, such as palatine tonsils. We report a case of a 12-year-old boy diagnosed with Proteus Syndrome (PS) and suffering from OSAS due to asymmetric palatine tonsillar hypertrophy, treated with partial resection of left tonsil. Read More

    Epidemiology of elephantiasis with special emphasis on podoconiosis in Ethiopia: A literature review.
    J Vector Borne Dis 2015 Jun;52(2):111-5
    Department of Microbiology, Immunology and Parasitology, College of Medicine and Health Science, Bahir Dar University, Ethiopia.
    Elephantiasis is a symptom of a variety of diseases that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts. Some conditions having this symptom include: Elephantiasis nostras, due to longstanding chronic lymphangitis; Elephantiasis tropica or lymphatic filariasis, caused by a number of parasitic worms, particularly Wuchereria bancrofti; non-filarial elephantiasis or podoconiosis, an immune disease caused by heavy metals affecting the lymph vessels; proteus syndrome, the genetic disorder of the so-called Elephant Man, etc. Podoconiosis is a type of lower limb tropical elephantiasis distinct from lymphatic filariasis. Read More

    Advances in Skeletal Dysplasia Genetics.
    Annu Rev Genomics Hum Genet 2015 22;16:199-227. Epub 2015 Apr 22.
    Department of Human Genetics and.
    Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature. They occur in approximately 1/5,000 births, and some are lethal. Since the most recent publication of the Nosology and Classification of Genetic Skeletal Disorders, genetic causes of 56 skeletal disorders have been uncovered. Read More

    Proteus syndrome: what the anesthetist should know.
    J Clin Anesth 2015 Aug 25;27(5):419-22. Epub 2015 Apr 25.
    Department of Anesthesia, Employees' State Insurance Postgraduate Institute of Medical, Sciences and Research (ESI PGIMSR), New Delhi, 110015, India. Electronic address:
    Proteus syndrome (PS), a rare hamartomatous disorder, manifests itself in asymmetric and disproportionate overgrowth of multiple body tissues. Because of complexity of the disorder, the anesthetic problems encountered during patients' perioperative management are very varied. We discuss the case of a 14-year-old adolescent boy diagnosed with PS who underwent corrective osteotomy of right knee joint under subarachnoid block. Read More

    Capillary malformations: a classification using specific names for specific skin disorders.
    J Eur Acad Dermatol Venereol 2015 Dec 10;29(12):2295-305. Epub 2015 Apr 10.
    Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.
    The name capillary malformation has caused much confusion because it is presently used to designate numerous quite different disorders such as naevus flammeus, the salmon patch, the vascular naevus of the hereditary 'megalencephaly-capillary malformation syndrome' and the skin lesions of non-hereditary traits such as 'capillary malformation-arteriovenous malformation' and 'microcephaly-capillary malformation'. To avoid such bewilderment, the present review describes the distinguishing clinical and genetic criteria of 20 different capillary malformations, and a specific name is given to all of them. The group of capillary naevi includes naevus flammeus, port-wine naevus of the Proteus type, port-wine naevus of the CLOVES type, naevus roseus, rhodoid naevus, cutis marmorata telangiectatica congenita, congenital livedo reticularis, segmental angioma serpiginosum, naevus anaemicus, naevus vascularis mixtus and angiokeratoma circumscriptum. Read More

    Surgical correction of kyphotic deformity in a patient with Proteus syndrome.
    Spine J 2015 Jul 7;15(7):e5-e12. Epub 2015 Apr 7.
    The Centre for Spinal Studies and Surgery, Queen's Medical Centre, Nottingham University Hospitals NHS Trust, Derby Rd, Nottingham, UK.
    Background Context: Proteus syndrome (PS) is an extremely rare congenital disorder causing asymmetric overgrowth of different tissues. The etiology remains unclear. Limb deformities are common and often necessitate amputations. Read More

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