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proteus syndrome

Shailender Rawal, Bhuwan Sharma, Surekha Dabla, Jasminder Singh, Shivraj Goyal
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.
May 2016: Journal of the Association of Physicians of India
Vaishak Muralidharan, U M Vaishak, M Anjali, A Jayaprakash
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Jung-Min Hong, Hyeon Jeong Lee, Eun Soo Kim, Hae-Kyu Kim, Soeun Jeon, Hyae-Jin Kim
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. An 11-year-old girl with PS was scheduled for ear surgery under general anesthesia. She had features complicating intubation including facial asymmetry and disproportion, abnormal teeth, limitation of neck movement due to torticollis, and thoracolumbar scoliosis...
October 2016: Korean Journal of Anesthesiology
Justin Stull, Suneel Bhat, Andrew J Miller, Ryan Hoffman, Mark L Wang
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. The authors present the case of a 69-year-old woman who developed tissue necrosis and compartment syndrome secondary to an untreated hematoma infected by P mirabilis...
September 29, 2016: Orthopedics
Jason Y Park, Cynthia Cohen, Dania Lopez, Erica Ramos, Jennifer Wagenfuehr, Dinesh Rakheja
Fibrous hamartoma of infancy (FHI) is a benign mesenchymal tumor histologically characterized by a mixture of intersecting fascicles of fibroblasts/myofibroblasts in collagenous stroma, nests of primitive oval or stellate cells in basophilic mucoid stroma, and mature adipose tissue. We hypothesized that FHI, because of histologic overlap with mesenchymal overgrowth tumors seen in CLOVES (Congenital Lipomatous Overgrowth with Vascular, Epidermal, Skeletal anomalies) and Proteus syndromes, may harbor mutations in signaling pathways associated with cellular proliferation...
September 14, 2016: American Journal of Surgical Pathology
A Yasmine Kirkorian, Anna L Grossberg, Katherine B Püttgen
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...
September 2016: Seminars in Cutaneous Medicine and Surgery
Kim M Keppler-Noreuil, Eva H Baker, Julie C Sapp, Marjorie J Lindhurst, Leslie G Biesecker
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.49G>A. This same mutation has also been found in 6-9% of sporadic non-syndromic meningiomas. Sixty-one patients with Proteus syndrome meeting clinical diagnostic criteria were evaluated at the NIH from 1997 to 2014...
October 2016: American Journal of Medical Genetics. Part A
Antonio Martinez-Lopez, Gonzalo Blasco-Morente, Israel Perez-Lopez, Jose David Herrera-Garcia, Maria Luque-Valenzuela, Daniel Sanchez-Cano, Juan Carlos Lopez-Gutierrez, Ricardo Ruiz-Villaverde, Jesus Tercedor-Sanchez
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...
July 18, 2016: Clinical Genetics
Dorothy L Rodenbeck, Laura A Greyling, John H Anderson, Loretta S Davis
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...
September 2016: Pediatric Dermatology
PrastiyaIndra Gunawan, Lusiana Lusiana, Darto Saharso
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...
2016: Iranian Journal of Child Neurology
Dawn S Russell-Hermanns, Douglas K Newman
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. This patient underwent successful surgical repair of the retinal detachment and subsequent cataract surgery...
June 9, 2016: Retinal Cases & Brief Reports
Sibghat Tul Llah, Salman Khan, Atman Dave, Amelia Jane A Morrison, Swapna Jain, David Hermanns
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...
2016: Curēus
Meggie E Doucet, Hadley M Bloomhardt, Krzysztof Moroz, Marjorie J Lindhurst, Leslie G Biesecker
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. The AKT1 mutation was measured using a PCR-based RFLP assay. Thirteen samples were grossly normal; six had detectable mutation (2-29%) although four of these six were histopathologically normal...
June 2016: American Journal of Medical Genetics. Part A
Michael B Chang, Catherine C Newman, Mark D P Davis, Julia S Lehman
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. METHODS: We reviewed retrospectively the clinical and histopathologic characteristics of patients with ALV from our institution and performed an extensive literature search to identify all published cases of ALV...
September 2016: International Journal of Dermatology
Joanne Ngeow, Kaitlin Sesock, Charis Eng
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...
December 23, 2015: Breast Cancer Research and Treatment
Marjorie J Lindhurst, Miranda R Yourick, Yi Yu, Ronald E Savage, Dora Ferrari, Leslie G Biesecker
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. We tested the efficacy of this drug for suppressing AKT signaling in cells and tissues from patients with Proteus syndrome. ARQ 092 reduced phosphorylation of AKT and downstream targets of AKT in a concentration-dependent manner in as little as two hours...
December 11, 2015: Scientific Reports
Sarah Asch, Jeffrey L Sugarman
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...
2015: Handbook of Clinical Neurology
Laura Flores-Sarnat, Harvey B Sarnat
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. Their pathogenesis is due to defective neural crest, further confirming that they are the same basic entity contradicting the concept that they are a group of heterogeneous syndromes with different etiologies...
2015: Handbook of Clinical Neurology
Liliana Vasquez, Mariela Tello, Ivan Maza, Monica Oscanoa, Milagros Dueñas, Haydee Castro, Alan Latorre
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. This is the youngest patient so far reported in the literature with this rare syndrome and an adnexal tumor of borderline malignancy...
2015: Case Reports in Oncological Medicine
Rudolf Happle
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. The class of nonsegmental mosaics includes single point mosaicism as exemplified by solitary benign or malignant skin tumors; disseminated mosaicism as noted in autosomal dominant tumor syndromes such as neurofibromatosis 1; and patchy mosaicism without midline separation as found in giant melanocytic nevus...
February 2016: American Journal of Medical Genetics. Part A
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