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Multiple lentigines

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https://www.readbyqxmd.com/read/28937433/a-case-of-phacomatosis-pigmentokeratotica-associated-with-multiple-basal-cell-carcinomas
#1
Seung-Hee Loh, Bark-Lynn Lew, Woo-Young Sim
Phacomatosis pigmentokeratotica is a recently identified disease characterized by the coexistence of an epidermal nevus with sebaceous differentiation arranged along Blaschko lines and a speckled lentiginous nevus showing a checkerboard pattern, mostly in association with various extracutaneous defects. A 52-year-old man presented with asymptomatic ulcerative plaque on his left side of perioral area. A 2 × 2-cm-sized fleshy colored ulceration on his left perioral area was consistent with basal cell carcinoma with nevus sebaceous...
September 13, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28911943/heterozygous-deletion-of-akt1-rescues-cardiac-contractility-but-not-hypertrophy-in-a-mouse-model-of-noonan-syndrome-with-multiple-lentigines
#2
Rajika Roy, Maike Krenz
Noonan Syndrome with Multiple Lentigines (NSML) is associated with congenital heart disease in form of pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Genetically, NSML is primarily caused by mutations in the non-receptor protein tyrosine phosphatase SHP2. Importantly, certain SHP2 mutations such as Q510E can cause a particularly severe form of HCM with heart failure in infancy. Due to lack of insight into the underlying pathomechanisms, an effective custom-tailored therapy to prevent heart failure in these patients has not yet been found...
September 11, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28862807/clinical-pathological-and-dermoscopic-characteristics-of-cutaneous-lesions-in-leopard-syndrome
#3
J Banuls, P J Álvarez-Chinchilla, A Lucas, I Poveda, B Encabo-Durán, M Niveiro, E Nagore, P Zaballos
LEOPARD syndrome (LS) is a rare autosomal disorder associated with multiple congenital anomalies. This term is an acronym for Lentigines (LT), Electrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness (1-3) . Mutations in PTPN11 gene cause this syndrome in around 90% of cases, and less frequently other mutations produce this entity(3-4) . This article is protected by copyright. All rights reserved.
September 1, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28761290/beneficial-effect-of-low-fluence-1-064-nm-q-switched-neodymium-yttrium-aluminum-garnet-laser-in-the-treatment-of-senile-lentigo
#4
Jae-Hui Nam, Han-Saem Kim, Ga-Young Lee, Won-Serk Kim
BACKGROUND: Low fluence 1,064 nm Q-switched (QS) Neodymium:Yttrium-Aluminum-Garnet (Nd:YAG) laser treatment, also known as laser toning, is widely used for pigmentary disorders. There has been no reliable evaluation of the effect of low fluence 1,064 nm QS Nd:YAG laser for senile lentigo. OBJECTIVE: To investigate the beneficial effect of low fluence 1,064 nm QS Nd:YAG laser in the treatment of senile lentigo on the face. METHODS: A retrospective review was conducted on patients treated only with repetitive low fluence 1,064 nm QS Nd:YAG laser...
August 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28691455/adult-syndrome-dental-features-of-a-very-rare-condition
#5
L Azzi, V Maurino, R Vinci, F Croveri, A Boggio, A Tagliabue, J Silvestre-Rangil
The Acro-Dermato-Ungual-Lacrimal-Tooth syndrome (ADULT syndrome) is one of the rarest ectodermal dysplasias and it is associated with several malformations involving especially the limbs. The most clinical features are the presence of ectrodactyly, syndactyly, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, hypotrichosis and frontal alopecia, hypohydrosis, cutaneous photosensitivity, nasal bridge prominence, exfoliative dermatitis and xerosis...
April 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28650561/craniosynostosis-in-patients-with-rasopathies-accumulating-clinical-evidence-for-expanding-the-phenotype
#6
Kimiko Ueda, Masako Yaoita, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto
RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome, hereditary gingival fibromatosis, and capillary malformation/arteriovenous malformation syndrome. Recently, six patients with craniosynostosis and Noonan syndrome involving KRAS mutations were described in a review, and a patient with craniosynostosis and Noonan syndrome involving a SHOC2 mutation has also been reported...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28643916/a-review-of-craniofacial-and-dental-findings-of-the-rasopathies
#7
REVIEW
H Cao, N Alrejaye, O D Klein, A F Goodwin, S Oberoi
OBJECTIVES: The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM)...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28582432/in-vivo-efficacy-of-the-akt-inhibitor-arq-092-in-noonan-syndrome-with-multiple-lentigines-associated-hypertrophic-cardiomyopathy
#8
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
#9
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
#10
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
#11
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
#12
C Santoro, T Giugliano, M A B Melone, M Cirillo, C Schettino, P Bernardo, G Cirillo, S Perrotta, G 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 (NSML) 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 NS...
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
#13
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...
August 2017: Melanoma Research
https://www.readbyqxmd.com/read/28225973/do-you-know-this-syndrome-leopard-syndrome
#14
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
#15
Akimasa Adachi, Mayumi Komine, Takeo Maekawa, Satoru Murata, Aiko Shiohama, Akiharu Kubo, Mamitaro Ohtsuki
No abstract text is available yet for this article.
June 9, 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
#16
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
#17
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
#18
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
#19
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
#20
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
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