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Multiple lentigines

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https://www.readbyqxmd.com/read/28582432/in-vivo-efficacy-of-the-akt-inhibitor-arq-092-in-noonan-syndrome-with-multiple-lentigines-associated-hypertrophic-cardiomyopathy
#1
Jianxun Wang, Vasanth Chandrasekhar, Giovanni Abbadessa, Yi Yu, Brian Schwartz, Maria I Kontaridis
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...
2017: PloS One
https://www.readbyqxmd.com/read/28483241/cochlear-implantation-and-clinical-features-in-patients-with-noonan-syndrome-and-noonan-syndrome-with-multiple-lentigines-caused-by-a-mutation-in-ptpn11
#2
Josephine W I van Nierop, Dorothée C van Trier, Ineke van der Burgt, Jos M T Draaisma, Emmanuel A M Mylanus, Ad F Snik, Ronald J C Admiraal, Henricus P M Kunst
Existing literature only reports a few patients with Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) who underwent cochlear implantation (CI). The present study describes four NS patients and one NSML patient with a PTPN11 mutation. They all had severe to profound hearing loss, and they received a CI. The age at which the CI surgery occurred ranged from 1 to 13 years old, and the audiological results in all five patients improved after the CI. Otological and audiological examinations in NS and NSML are important, and for those with severe hearing loss, the CI surgery improved the audiological outcome regardless of age...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28480643/urticaria-pigmentosa-mimicking-multiple-lentigine-like-brownish-macules-in-a-22-month-old-boy
#3
Joon Hyuk Suh, Kui Young Park, Seong Jun Seo
No abstract text is available yet for this article.
June 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28470790/high-risk-cutaneous-squamous-cell-carcinoma-in-a-japanese-allogeneic-bone-marrow-transplant-recipient-on-long-term-voriconazole
#4
William Ng, Akira Takahashi, Yusuke Muto, Naoya Yamazaki
Cutaneous squamous cell carcinomas arise as secondary cancers in hematopoietic stem cell transplant survivors. They have been documented primarily in Western cohorts and relatively little is known about their occurrence in Asian hematopoietic stem cell transplant recipients, with no reports of squamous cell carcinomas with high-risk features in Asian patients. We describe a case of a cutaneous squamous cell carcinoma with high-risk features on the scalp of a Japanese bone marrow transplant recipient approximately 6...
May 4, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28456002/multiple-spinal-nerve-enlargement-and-sos1-mutation-further-evidence-of-overlap-between-neurofibromatosis-type-1-and-noonan-phenotype
#5
Claudia Santoro, Teresa Giugliano, Mariarosa Anna Beatrice Melone, Mario Cirillo, Carla Schettino, Pia Bernardo, Giovanni Cirillo, Silverio Perrotta, Giulio Piluso
Neurofibromatosis type 1 (NF1) has long been considered a well-defined, recognizable monogenic disorder, with neurofibromas constituting a pathognomonic sign. This dogma has been challenged by recent descriptions of patients with enlarged nerves or paraspinal tumors, suggesting that neurogenic tumors and hypertrophic neuropathy may be a complication of Noonan syndrome with multiple lentigines or RASopathy phenotype. We describe a 15-year-old boy, whose mother previously received clinical diagnosis of NF1 due to presence of bilateral cervical and lumbar spinal lesions resembling plexiform neurofibromas and features suggestive of Noonan syndrome...
April 29, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28296711/prognostic-role-of-the-histological-subtype-of-melanoma-on-the-hands-and-feet-in-caucasians
#6
Cristina Carrera, Adrià Gual, Alba Díaz, Joan A Puig-Butillé, Susanna Noguès, Antonio Vilalta, Carlos Conill, Ramón Rull, Ramon Vilana, Pedro Arguis, Sergi Vidal-Sicart, Llucia Alós, Josep Palou, Teresa Castel, Josep Malvehy, Susana Puig
Acral melanoma (AM) is associated with a poor prognosis in part because of delayed diagnosis, but probably also because of other intrinsic characteristics of location. The aim of this study was to review the specific characteristics and outcome of AM in Caucasians. This was a cross-sectional retrospective clinical-pathological study of 274 patients identified with AM in the database of a referral unit in Europe from 1986 to 2010. The mean age of the patients was 56.6 (SD 17.7) years. 269 cases could be histologically classified and included in the study...
March 14, 2017: Melanoma Research
https://www.readbyqxmd.com/read/28225973/do-you-know-this-syndrome-leopard-syndrome
#7
Flávio Heleno da Silva Queiroz Cançado, Luis Candido Pinto da Silva, Paulo Franco Taitson, Ana Carolina Dias Viana de Andrade, Matheus Melo Pithon, Dauro Douglas Oliveira
Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment...
January 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28224164/multiple-primary-acral-lentiginous-melanoma-on-the-feet-developing-in-lesions-of-nagashima-type-palmoplantar-keratoderma
#8
Akimasa Adachi, Mayumi Komine, Takeo Maekawa, Satoru Murata, Aiko Shiohama, Akiharu Kubo, Mamitaro Ohtsuki
No abstract text is available yet for this article.
February 22, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28045755/nevus-spilus-speckled-lentiginous-nevus-in-the-oral-cavity-report-of-a-case-and-review-of-the-literature
#9
REVIEW
Karen G Torres, Laura Carle, Michael Royer
The congenital melanocytic nevus is a pigmented melanocytic lesion that presents at birth or shortly thereafter. It is commonly described on the skin, usually on the trunk and extremities. Only five intraoral cases of congenital melanocytic nevi have been described in the English literature. A nevus spilus (speckled lentiginous nevus) is a clinical variant of congenital melanocytic nevus. The authors present the case of a 19-year-old male with an intraoral nevus spilus. The anterior mandibular gingiva exhibited multiple speckled, pigmented papules and macules on a thickened, hyperplastic macular background...
January 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27942593/low-dose-dasatinib-rescues-cardiac-function-in-noonan-syndrome
#10
Jae-Sung Yi, Yan Huang, Andrea T Kwaczala, Ivana Y Kuo, Barbara E Ehrlich, Stuart G Campbell, Frank J Giordano, Anton M Bennett
Noonan syndrome (NS) is a common autosomal dominant disorder that presents with short stature, craniofacial dysmorphism, and cardiac abnormalities. Activating mutations in the PTPN11 gene encoding for the Src homology 2 (SH2) domain-containing protein tyrosine phosphatase-2 (SHP2) causes approximately 50% of NS cases. In contrast, NS with multiple lentigines (NSML) is caused by mutations that inactivate SHP2, but it exhibits some overlapping abnormalities with NS. Protein zero-related (PZR) is a SHP2-binding protein that is hyper-tyrosyl phosphorylated in the hearts of mice from NS and NSML, suggesting that PZR and the tyrosine kinase that catalyzes its phosphorylation represent common targets for these diseases...
December 8, 2016: JCI Insight
https://www.readbyqxmd.com/read/27924582/modeling-rasopathies-with-genetically-modified-mouse-models
#11
Isabel Hernández-Porras, Carmen Guerra
The RAS/MAPK signaling pathway plays key roles in development, cell survival and proliferation, as well as in cancer pathogenesis. Molecular genetic studies have identified a group of developmental syndromes, the RASopathies, caused by germ line mutations in this pathway. The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML, formerly known as LEOPARD syndrome), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS, NF1-like syndrome), capillary malformation-arteriovenous malformation syndrome (CM-AVM), and hereditary gingival fibromatosis (HGF) type 1...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27666661/molecular-screening-strategies-for-nf1-like-syndromes-with-caf%C3%A3-au-lait-macules-review
#12
REVIEW
Jia Zhang, Ming Li, Zhirong Yao
Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone...
November 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27579522/association-between-confocal-morphologic-classification-and-clinical-phenotypes-of-multiple-primary-and-familial-melanomas
#13
Thaís Corsetti Grazziotin, Ivette Alarcon, Renan Rangel Bonamigo, Cristina Carrera, Miriam Potrony, Paula Aguilera, Joan-Anton Puig-Butillé, Johanna Brito, Celia Badenas, Llúcia Alós, Josep Malvehy, Susana Puig
Importance: The improved knowledge of clinical, morphologic, and epidemiologic heterogeneity of melanoma in the context of multiple primary and familial melanomas may improve prevention, diagnosis, and prognosis of melanoma. Objective: To characterize reflectance confocal microscopy (RCM) morphologic patterns of melanomas in multiple primary and familial melanomas. Design, Setting, and Participants: In this cross-sectional, retrospective study, patients in a hospital-based referral center were recruited from March 1, 2010, through August 31, 2013; data analysis was conducted from September 1, 2013, through May 31, 2014...
October 1, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27576582/racial-differences-in-six-major-subtypes-of-melanoma-descriptive-epidemiology
#14
Yu Wang, Yinjun Zhao, Shuangge Ma
BACKGROUND: Melanoma accounts for the majority of skin cancer deaths. It has over thirty different subtypes. Different races have been observed to differ in multiple aspects of melanoma. METHODS: SEER (Surveillance, Epidemiology, and End Results) data on six major subtypes, namely melanoma in situ (MIS), superficial spreading melanoma (SSM), nodular melanoma (NM), lentigo maligna melanoma (LMM), acral lentiginous melanoma malignant (ALM), and malignant melanoma NOS (NOS), were analyzed...
August 30, 2016: BMC Cancer
https://www.readbyqxmd.com/read/27559525/acral-lentiginous-melanoma-with-multiple-brain-metastases-in-an-indian-male
#15
Kumar Parimalam, Jeyalakshmidevi Namasivayam, Subha Ramasamy, Suganthy Valavan
No abstract text is available yet for this article.
July 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27554254/cardiac-manifestations-and-associations-with-gene-mutations-in-patients-diagnosed-with-rasopathies
#16
Won Kyoung Jhang, Jin-Ho Choi, Beom Hee Lee, Gu-Hwan Kim, Han-Wook Yoo
RASopathies are a group of syndromes caused by germline mutations of the RAS/MAPK pathway. They include Noonan syndrome, cardio-facio-cutaneous syndrome, Costello syndrome, and Noonan syndrome with multiple lentigines, which share many characteristic features including cardiac abnormalities. Here, we retrospectively reviewed the clinical manifestations and evaluated the genotype-phenotype associations with special focus on cardiac lesions of the patients with RASopathies. Cardiac symptoms were the most common initial presentation (27 %), except for admission to neonatal intensive care...
December 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27385963/rasopathies-presentation-at-the-genome-interactome-and-phenome-levels
#17
Urska Pevec, Neva Rozman, Blaz Gorsek, Tanja Kunej
Clinical symptoms often reflect molecular correlations between mutated proteins. Alignment between interactome and phenome levels reveals new disease genes and connections between previously unrelated diseases. Despite a great potential for novel discoveries, this approach is still rarely used in genomics. In the present study, we analyzed the data of 6 syndromes belonging to the RASopathy class of disorders (RASopathies) and presented them as a model to study associations between genome, interactome, and phenome levels...
May 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27358095/assessment-of-pten-associated-vascular-malformations-in-a-patient-with-bannayan-riley-ruvalcaba-syndrome
#18
Sandra Anusic, Robert Karl Josef Clemens, Thomas Oleg Meier, Beatrice Ruth Amann-Vesti
Misdiagnosis of phosphatase and tensin homologue hamartoma syndromes is common. Correct diagnosis has a relevant impact on patients, as the risk of malignancies is high and treatment options are limited. We report the case of a 24-year-old man who presented with symptomatic vascular intramuscular lesions of the left forearm and right calf, macrocephaly, post Hashimoto thyroiditis, a multicystic intracranial paratrigonal lesion, lentiginous hyperpigmented maculae on the foreskin and multiple skin lesions. MRI showed extended fibrofatty changes and malformed vessels in the forearm and calf lesions, also, arteriovenous shunting was present in these lesions...
June 29, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27348588/developmental-shp2-dysfunction-underlies-cardiac-hypertrophy-in-noonan-syndrome-with-multiple-lentigines
#19
Jessica Lauriol, Janel R Cabrera, Ashbeel Roy, Kimberly Keith, Sara M Hough, Federico Damilano, Bonnie Wang, Gabriel C Segarra, Meaghan E Flessa, Lauren E Miller, Saumya Das, Roderick Bronson, Kyu-Ho Lee, Maria I Kontaridis
Hypertrophic cardiomyopathy is a common cause of mortality in congenital heart disease (CHD). Many gene abnormalities are associated with cardiac hypertrophy, but their function in cardiac development is not well understood. Loss-of-function mutations in PTPN11, which encodes the protein tyrosine phosphatase (PTP) SHP2, are implicated in CHD and cause Noonan syndrome with multiple lentigines (NSML), a condition that often presents with cardiac hypertrophic defects. Here, we found that NSML-associated hypertrophy stems from aberrant signaling mechanisms originating in developing endocardium...
August 1, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27296701/cell-type-specific-roles-of-ras-mapk-signaling-in-learning-and-memory-implications-in-neurodevelopmental-disorders
#20
Hyun-Hee Ryu, Yong-Seok Lee
The RAS-mitogen-activated protein kinase (MAPK) signaling pathway plays critical roles in brain function, including learning and memory. Mutations of molecules in the RAS-MAPK pathway are associated with a group of disorders called RASopathies, which include Noonan syndrome, neurofibromatosis type 1, Costello syndrome, Noonan syndrome with multiple lentigines, Legius syndrome, and cardio-facio-cutaneous syndrome. RASopathies share certain clinical symptoms, including craniofacial abnormalities, heart defects, delayed growth, and cognitive deficits such as learning disabilities, while each individual syndrome also displays unique phenotypes...
June 10, 2016: Neurobiology of Learning and Memory
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