Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review

2013 ◽  
Vol 30 (6) ◽  
pp. 665-673 ◽  
Author(s):  
Fanny Morice-Picard ◽  
Khaled Ezzedine ◽  
Marie-Ange Delrue ◽  
Benoit Arveiler ◽  
Patricia Fergelot ◽  
...  
Author(s):  
Hajar El Bhali ◽  
Ayoub Bounssir ◽  
Tarik Bakkali ◽  
Asmae Jdar ◽  
Samir El Khloufi ◽  
...  

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 551.1-551
Author(s):  
N. Foulquier ◽  
B. Chevet ◽  
G. Carvajal Alegria ◽  
L. Saraux ◽  
V. Devauchelle-Pensec ◽  
...  

Background:For rheumatologists monitoring patients with various diseases and dealing with multiple scores with different maximum values (9 for RA-DAS, 6.4 for AS-DAS and 60 for PMR-AS) and values thresholds to characterize the different levels of disease activity (low, intermediate and high) can be a tedious task. The same problematic could arise in other specialty than rheumatology. Normalization of these scores seems to be necessary to facilitate daily clinical practice (1).Objectives:To indentify and standardize scores of activity of inflammatory diseases.Methods:We conducted a literature review on activity criteria using both a manual approach and the BIBOT software (2) published in English between 1.1.1975 and 31.12.2018. Within all extracted disease activity scores, we selected those with cut off values in four classes (remission, low, moderate and high disease activity). We used a linear interpolation to map all these disease activity scores to our new score, the AS-135, and developed a smart-phone application to perform the conversion automatically.Results:1068 articles were analyzed by BIBOT, 86 were excluded on the basis of the language used for their writing and 11 were excluded on the basis of their publication date. 599 were selected based on their titles, abstracts and keywords. 108 activity criteria from various fields (rheumatology, dermatology, gastroenterology, psychiatry, neurology and pneumology) were identified, but it is in rheumatology that we find separation into four classes. 10 scores met our inclusion criteria and were implemented in the Android app. These are: DAS28 (ESR), DAS28 (CRP), SDAI, ASDAS (ESR), ASDAS (CRP), ESSDAI, SLEDAI-2K, DAPSA, PMR-AS (ESR) and PMR-AS (CRP). We built the AS135 score modification for each selected score using a linear interpolation of the existing criteria. It was defined on the interval [0,10] and values 1, 3 and 5 were used as thresholds. These arbitrary thresholds are then associated with the thresholds of the existing criteria and an interpolation can be calculated, allowing the conversion of the existing criteria into AS135 criterion. We have finally created a mobile application that allows each user to obtain both the original value of the activity criterion.Conclusion:We have created a mobile application that allows any user to obtain in a simple way the level of disease activity, whatever the criterion used to describe it, since the application returns, in addition to the value of the activity criterion calculated from data returned by the physician, the transformation of this value into AS135 criterion and its interpretation in terms of level of activity of the pathology. The application is now available for Android devices and we plan to start developing a version for iOS devices.References:[1]Saraux L, Devauchelle-Pensec V, Saraux A. Plea for standardization of disease activity scores. Rheumatol Oxf Engl. 2019 Aug 1;58(8):1500–1[2]Orgeolet L, Foulquier N, Misery L, Redou P, Pers J-O, Devauchelle-Pensec V, et al. Can artificial intelligence replace manual search for systematic literature? Review on cutaneous manifestations in primary Sjögren’s syndrome. Rheumatol Oxf Engl. 2019 Aug 31;Disclosure of Interests:None declared


2021 ◽  
Vol 25 (1) ◽  
pp. 16-24
Author(s):  
O. B. Tamrazova ◽  
A. S. Stadnikova ◽  
E. V. Rudikova

In late 2019, a new viral infection appeared in China, which spread around the world, causing a pandemic. The causative agent of the new coronavirus infection COVID-19 is the SARS-CoV-2 coronavirus. The review presents modern data on the epidemiology, pathogenesis and course of the novel coronavirus infection COVID-19 in children. Chinese, American and European scientists have described a variety of cutaneous manifestations in children with COVID-19. The article provides a literature review of the cutaneous manifestations of COVID-19 coronavirus infection in children. During our own observation of 301 patients with coronavirus infection COVID-19 caused by SARS-CoV-2 at the Bashlyaevs Children Hospital in Moscow from May 17 to November 16, 2020, it was revealed that 39 (13 %) patients had skin manifestations. The article presents a classification of skin manifestations characteristic of COVID-19. A brief description of each group is given.


2019 ◽  
Vol 8 (4) ◽  
pp. 49-53
Author(s):  
V. V. Umnov ◽  
N. V. Nikitina ◽  
A. M. Khodorovskaya ◽  
O. V. Barlova

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.


2017 ◽  
Vol 107 ◽  
pp. 1043.e7-1043.e13 ◽  
Author(s):  
Zi-Fu Li ◽  
Qiang Li ◽  
Yi Xu ◽  
Bo Hong ◽  
Qing-Hai Huang ◽  
...  

2018 ◽  
Vol 48 ◽  
pp. 254.e1-254.e5 ◽  
Author(s):  
Georgios Sahsamanis ◽  
Georgios Vourliotakis ◽  
Konstantinos Pirgakis ◽  
Anastasios Lekkas ◽  
Ioannis Kantounakis ◽  
...  

2005 ◽  
Vol 71 (3) ◽  
pp. 386-391 ◽  
Author(s):  
José A. Pinto ◽  
Carlos Fernando Mello ◽  
Ana Carla S. Marqui ◽  
Delmer J. Perfeito ◽  
Roberto D.P. Ferreira ◽  
...  

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