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Multiple lentigines

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https://www.readbyqxmd.com/read/29782304/role-of-in-vivo-reflectance-confocal-microscopy-in-the-analysis-of-melanocytic-lesions
#1
Elena-Daniela Serban, Francesca Farnetani, Giovanni Pellacani, Maria Magdalena Constantin
Worldwide melanoma incidence and mortality are increasing (1). Despite the ongoing research, advanced melanoma is still incurable; therefore, the most appropriate solution seems to be early detection combined with complete surgical excision (2). Since the diagnostic protocol of suspicious lesions includes a complete excision with safety margins (2), the problem of unnecessary scarring is significant. The real challenge in this case is to have a properly formulated diagnosis before acquiring a biopsy. Currently available non-invasive techniques are coherence tomography, digital dermoscopy, and reflectance confocal microscopy...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29768331/the-value-of-18f-fdg-pet-ct-in-patient-with-neurofibromatosis-type-1-a-case-report-and-literature-review
#2
Jiazhong Ren, Guoren Yang, Jing Zhou, Zheng Fu
RATIONALE: Neurofibromatosis type one (NF1) is characterized by cutaneous and nervous lesions, and the tendency to form plexiform neurofibromas (PNFs). PNFs may undergo malignant transformation into a malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs often carry an significant morbidity and mortality. PATIENT CONCERNS: A 17-year-old man with gradually increased multiple subcutaneous soft lesions. He also presented with numerous lentigines and multiple café-au-lait macules on his body...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29750912/ras-signalling-in-energy-metabolism-and-rare-human-diseases
#3
REVIEW
L Dard, N Bellance, D Lacombe, R Rossignol
The RAS pathway is a highly conserved cascade of protein-protein interactions and phosphorylation that is at the heart of signalling networks that govern proliferation, differentiation and cell survival. Recent findings indicate that the RAS pathway plays a role in the regulation of energy metabolism via the control of mitochondrial form and function but little is known on the participation of this effect in RAS-related rare human genetic diseases. Germline mutations that hyperactivate the RAS pathway have been discovered and linked to human developmental disorders that are known as RASopathies...
May 8, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29717636/importance-of-cardiovascular-examination-in-patients-with-multiple-lentigines-two-cases-of-leopard-syndrome-with-hypertrophic-cardiomyopathy
#4
Tomas Jurko, Alexander Jurko, Jana Krsiakova, Alexander Jurko, Milan Minarik, Michal Mestanik
Introduction LEOPARD syndrome is a rare genetic disorder characterised by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth and sensorineural deafness. Clinical manifestations are often mild, which may result in difficult and late diagnosis. Cardiac involvement may have a significant impact on the prognosis, however, appearance of severe abnormalities such as hypertrophic cardiomyopathy usually precedes the occurrence of multiple lentigines and may be asymptomatic...
May 2, 2018: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29604008/three-dimensional-facial-digitization-using-advanced-digital-image-correlation
#5
Hieu Nguyen, Hien Kieu, Zhaoyang Wang, Hanh N D Le
Presented in this paper is an effective technique to acquire the three-dimensional (3D) digital images of the human face without the use of active lighting and artificial patterns. The technique is based on binocular stereo imaging and digital image correlation, and it includes two key steps: camera calibration and image matching. The camera calibration involves a pinhole model and a bundle-adjustment approach, and the governing equations of the 3D digitization process are described. For reliable pixel-to-pixel image matching, the skin pores and freckles or lentigines on the human face serve as the required pattern features to facilitate the process...
March 20, 2018: Applied Optics
https://www.readbyqxmd.com/read/29559584/gain-of-function-mutations-in-the-gene-encoding-the-tyrosine-phosphatase-shp2-induce-hydrocephalus-in-a-catalytically-dependent-manner
#6
Hong Zheng, Wen-Mei Yu, Ronald R Waclaw, Maria I Kontaridis, Benjamin G Neel, Cheng-Kui Qu
Catalytically activating mutations in Ptpn11 , which encodes the protein tyrosine phosphatase SHP2, cause 50% of Noonan syndrome (NS) cases, whereas inactivating mutations in Ptpn11 are responsible for nearly all cases of the similar, but distinct, developmental disorder Noonan syndrome with multiple lentigines (NSML; formerly called LEOPARD syndrome). However, both types of disease mutations are gain-of-function mutations because they cause SHP2 to constitutively adopt an open conformation. We found that the catalytic activity of SHP2 was required for the pathogenic effects of gain-of-function, disease-associated mutations on the development of hydrocephalus in the mouse...
March 20, 2018: Science Signaling
https://www.readbyqxmd.com/read/29445579/patient-with-confirmed-leopard-syndrome-developing-multiple-melanoma
#7
Caroline Colmant, Deborah Franck, Liliane Marot, Gert Matthijs, Yves Sznajer, Sandrine Blomme, Isabelle Tromme
LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D)...
January 2018: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/29432239/neurocutaneous-disorders
#8
Tena Rosser
PURPOSE OF REVIEW: This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices. RECENT FINDINGS: The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29429904/longitudinal-clinicopathologic-data-of-the-progression-of-oral-mucosal-melanoma-report-of-2-cases-and-literature-review
#9
Paras B Patel, John M Wright, David R Kang, Yi-Shing Lisa Cheng
Oral mucosal melanoma (OMM) is notorious for having a poor prognosis. Recognition of the early features of OMM by both clinicians and pathologists can play an important role in improving survival. Therefore, the purpose of this report is to increase awareness of the early features of OMM, by presenting 2 cases with longitudinal clinical and histopathologic documentation showing progression of OMM from a deceptively bland premalignant (noninvasive) oral melanocytic lesion (POML). By analyzing the clinical and histopathologic features of POML in our cases, and those in the literature, we found that the concerning features are (1) clinically, a pigmented lesion violating the ABCDE criteria or showing multiple recurrences; and (2) histologically, a melanocytic proliferation, in either a lentiginous or pagetoid pattern with or without cellular atypia...
December 28, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29356064/noonan-syndrome-with-multiple-lentigines-and-associated-craniosynostosis
#10
B S McDonald, M Pigors, D P Kelsell, E A O'Toole, E Burkitt-Wright, B Kerr, K Batta
No abstract text is available yet for this article.
April 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29162369/carney-complex-review-genetic-features
#11
María Belén Bosco Schamun, Ricardo Correa, Patricia Graffigna, Valeria de Miguel, Patricia Fainstein Day
Carney complex is a multiple neoplasia syndrome having endocrine and non-endocrine manifestations. Diagnostic criteria include myxoma, lentigines, and primary pigmented nodular adrenocortical disease, amongst other signs/symptoms. In most cases it is an autosomal dominant disease, and diagnosis therefore requires study and follow-up of the family members. Inactivating mutations of the PRKAR1A gene were identified as the main cause of the disease, although since 2015 other disease-related genes, including PRKACA and PRKACB activating mutations, have also been related with Carney complex...
January 2018: Endocrinología, Diabetes y Nutrición
https://www.readbyqxmd.com/read/29104695/multiple-primary-acral-lentiginous-melanomas-mpalm
#12
Miriam González, Georgi Tchernev, Anastasiya Atanasova-Chokoeva, Katlein França, Torello Lotti
We present a rare case of a patient with multiple primary acral lentiginous melanomas of the foot. We would like to highlight the importance of whole-skin examination in all patients, even by the general practitioners, aiming the maximal early detection of acral lentiginous melanomas, considering their rapid progression, early metastatic spread and extremely poor prognosis. It can be extrapolated from current literature; however, that appropriate management of these patients, including staging work and surgical intervention, is to be determined by the individual characteristics of the melanoma and the patient's concomitant risk factors, if any...
October 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28979012/focal-dermal-hypoplasia-goltz-syndrome-a-cross-sectional-study-from-eastern-india
#13
Sudip Kumar Ghosh, Abhijit Dutta, Sharmila Sarkar, Shanka Subhra Nag, Surajit Kumar Biswas, Prabhakar Mandal
INTRODUCTION: Focal dermal hypoplasia (Goltz syndrome), is an extremely rare genetic disorder characterized by distinct skin manifestations and a wide range of abnormalities involving the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The objective of the present series is to emphasize the different typical as well as unusual features of this rare syndrome. METHOLOGY: This cross-sectional observational study was performed over a period of 8 years in a tertiary care hospital of Eastern India...
September 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28937433/a-case-of-phacomatosis-pigmentokeratotica-associated-with-multiple-basal-cell-carcinomas
#14
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...
February 2018: 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
#15
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...
November 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28862807/clinical-pathological-and-dermoscopic-characteristics-of-cutaneous-lesions-in-leopard-syndrome
#16
LETTER
J Banuls, P J Álvarez-Chinchilla, A Lucas, I Poveda, B Encabo-Durán, M Niveiro, E Nagore, P Zaballos
No abstract text is available yet for this article.
March 2018: 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
#17
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
#18
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
#19
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...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28643916/a-review-of-craniofacial-and-dental-findings-of-the-rasopathies
#20
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
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