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Multiple lentigines

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...
September 22, 2016: Molecular Medicine Reports
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
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...
2016: BMC Cancer
Kumar Parimalam, Jeyalakshmidevi Namasivayam, Subha Ramasamy, Suganthy Valavan
No abstract text is available yet for this article.
July 2016: Indian Dermatology Online Journal
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...
August 23, 2016: Pediatric Cardiology
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
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...
2016: BMJ Case Reports
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
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
Henk van den Berg, Willem Hans Schreuder, Marjolijn Jongmans, Danielle van Bommel-Slee, Bart Witsenburg, Jan de Lange
A patient with Noonan syndrome with multiple lentigines (NSML) and multiple giant cell lesions (MGCL) in mandibles and maxillae is described. A mutation p.Thr468Met in the PTPN11-gene was found. This is the second reported NSML patient with MGCL. Our case adds to the assumption that, despite a different molecular pathogenesis and effect on the RAS/MEK pathway, NSML shares the development of MGCL, with other RASopathies.
August 2016: European Journal of Medical Genetics
David A Stevenson, Lisa Schill, Lisa Schoyer, Brage S Andresen, Annette Bakker, Pinar Bayrak-Toydemir, Emma Burkitt-Wright, Kathryn Chatfield, Florent Elefteriou, Ype Elgersma, Michael J Fisher, David Franz, Bruce D Gelb, Anne Goriely, Karen W Gripp, Antonio Y Hardan, Kim M Keppler-Noreuil, Bronwyn Kerr, Bruce Korf, Chiara Leoni, Frank McCormick, Scott R Plotkin, Katherine A Rauen, Karlyne Reilly, Amy Roberts, Abby Sandler, Dawn Siegel, Karin Walsh, Brigitte C Widemann
The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation-arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field...
August 2016: American Journal of Medical Genetics. Part A
Seiichi Maruyama
BACKGROUND: In recent years, facial rejuvenation using Intense Pulsed Light (IPL) is in demand and there have been many reports. However, hand rejuvenation, which aims to treat lentigines on the dorsal hand and wrinkles, is in demand but with few reports. In this study, hand rejuvenation was attempted using two wavelengths of a standard IPL system. It focuses mainly on improvement of lentigines, and efficacy on wrinkles on the dorsal hand will be discussed as well. SUBJECTS AND METHODS: The subjects were 128 Japanese patients (average age 58...
March 31, 2016: Laser Therapy
Noha M Dawoud, Ola A Bakry, Mohamed A Shoeib, Huda N Ismael
BACKGROUND: The vitamin D endocrine system, besides multiple other functions, regulates aging in many tissues, including the skin. It protects the skin against the hazardous effects of many skin age-inducing agents, including ultraviolet radiation. Thus, in the present study we aimed to investigate the relationship between facial skin aging and 25-hydroxyvitamin D [25(OH)D] serum levels in healthy Egyptian adults. METHODS: Sixty-one healthy adult subjects were included...
2016: Skin Pharmacology and Physiology
Claire Maridet, Guilhem Sole, Fanny Morice-Picard, Alain Taieb
RASopathies comprise several genetic syndromes with mainly cardio-facial-cutaneous manifestations. We report a patient with Noonan syndrome with multiple lentigines (NSML) due to a PTPN11 (p.Thr468Met) mutation associated with hypertrophic neuropathy of lumbar plexus in an adult woman, initially referred for neuropathic pain. Differential diagnosis of neurofibromatosis type 1 (NF1) and other RASopathies is difficult without molecular testing. © 2016 Wiley Periodicals, Inc.
June 2016: American Journal of Medical Genetics. Part A
Catie Cessans, Virginie Ehlinger, Catherine Arnaud, Armelle Yart, Yline Capri, Pascal Barat, Benoit Cammas, Didier Lacombe, Régis Coutant, Albert David, Sabine Baron, Jacques Weill, Bruno Leheup, Marc Nicolino, Jean-Pierre Salles, Alain Verloes, Maithé Tauber, Hélène Cavé, Thomas Edouard
BACKGROUND: Growth patterns of patients with Noonan syndrome (NS) were established before the involved genes were identified. OBJECTIVE: The goal of this study was to compare growth parameters according to genotype in patients with NS. SUBJECTS AND METHODS: The study population included 420 patients (176 females and 244 males) harboring mutations in the PTPN11, SOS1, RAF1, or KRAS genes. NS-associated PTPN11 mutations (NS-PTPN11) and NS with multiple lentigines-associated PTPN11 mutations (NSML-PTPN11) were distinguished...
May 2016: European Journal of Endocrinology
Vishal Gupta, Suman Patra, Sudheer Arava, Gomathy Sethuraman
A 33-year-old HIV-positive Indian man presented with multiple bluish and erythematous papulo-nodules on his right leg and foot. A diagnosis of Kaposi's sarcoma was suspected clinically. Biopsy of the cutaneous lesions showed features of melanoma. On careful re-examination, an irregular brown-black macule, of which the patient was unaware, was noted on the ipsilateral sole. Histological examination of the sole lesion also showed features of melanoma. Systemic evaluation revealed extensive nodal and visceral metastases...
2016: BMJ Case Reports
Reshmi Madankumar, Priyanka V Gumaste, Kathryn Martires, Panta R Schaffer, Sonal Choudhary, Leyre Falto-Aizpurua, Harleen Arora, Penelope J Kallis, Shailee Patel, Shadi Damanpour, Margaret I Sanchez, Natalie Yin, Aegean Chan, Miguel Sanchez, David Polsky, Holly Kanavy, James M Grichnik, Jennifer A Stein
BACKGROUND: Acral lentiginous melanoma has increased mortality compared with other melanoma subtypes and disproportionately affects ethnic minorities. Acral melanocytic lesions have not been well studied in diverse populations of the United States. OBJECTIVE: We sought to assess the prevalence, awareness, and dermoscopic patterns of acral melanocytic lesions in skin-of-color and non-Hispanic white patients. METHODS: We prospectively examined the palms and soles of 1052 patients presenting to dermatology clinics in New York, NY, and Miami, FL, from October 2013 to April 2015...
April 2016: Journal of the American Academy of Dermatology
Yi-Shuan Sheen, Yi-Hua Liao, Ming-Hsien Lin, Hsien-Ching Chiu, Shiou-Hwa Jee, Jau-Yu Liau, Yih-Leong Chang, Chia-Yu Chu
Insulin-like growth factor-II mRNA-binding protein 3 (IMP-3) is an RNA-binding protein expressed in multiple cancers, including melanomas. However, the expression of IMP-3 has not been investigated in acral lentiginous melanoma (ALM). This study sought to elucidate its prognostic value in ALMs. IMP-3 expression was studied in 93 patients diagnosed with ALM via immunohistochemistry. Univariate and multivariate analyses for survival were performed, according to clinical and histologic parameters, using the Cox proportional hazard model...
2016: PloS One
Sudip Kumar Ghosh, Biswajit Majumdar, Olympia Rudra, Sougat Chakraborty
LEOPARD syndrome (LS) is an autosomal dominantly inherited or sporadic disorder of variable penetrance and expressivity. The acronym LEOPARD stands for its cardinal clinical features including Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and Deafness. We present herein a patient with LEOPARD syndrome and distinctive features. It was noteworthy that our patient presented with the concern of generalized lentiginosis and subsequent evaluation revealed that the patient had LEOPARD syndrome...
October 2015: Dermatology Online Journal
Sara Ekvall, Maria Wilbe, Jovanna Dahlgren, Eric Legius, Arie van Haeringen, Otto Westphal, Göran Annerén, Marie-Louise Bondeson
BACKGROUND: Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including short stature, congenital heart defect, unusual pectus deformity and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway. CASE PRESENTATION: Here, we present a clinical and molecular characterization of a small family with Noonan syndrome. Comprehensive mutation analysis of NF1, PTPN11, SOS1, CBL, BRAF, RAF1, SHOC2, MAP2K2, MAP2K1, SPRED1, NRAS, HRAS and KRAS was performed using targeted next-generation sequencing...
2015: BMC Medical Genetics
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