American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou +6 more
wiley +1 more source
New trends in botulinum toxin use in dermatology
Dermatology Practical & Conceptual, 2018 Background: Recent studies have highlighted new botulinum neurotoxin (BoNT) applications in the field of dermatology. Objective: To review current knowledge of BoNT use in dermatology. Methods: The literature of the last 5 years has been reviewed.
Stefania Guida +6 more
doaj +1 more source
Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review
Toxins, 2021 Botulinum toxin is a superfamily of neurotoxins produced by the bacterium Clostridium Botulinum with well-established efficacy and safety profile in focal idiopathic hyperhidrosis.
Emanuela Martina +4 more
doaj +1 more source
Autoimmune diseases and their manifestations on oral cavity: diagnosis and clinical management [PDF]
, 2018 Oral signs are frequently the first manifestation of autoimmune diseases. For this reason, dentists play an important role in the detection of emerging autoimmune pathologies.
Bossù, Maurizio +5 more
core +2 more sources
Case‐Based Immunology: B Cells and Systemic Sclerosis Interstitial Lung Disease
Arthritis &Rheumatology, EarlyView.Interstitial lung disease (ILD) is an important complication of systemic sclerosis (SSc), with high mortality and morbidity. Recent clinical studies in SSc‐ILD have led to US Food and Drug Administration–approved therapies in SSc‐ILD. Importantly, evidence from these studies has been extrapolated to guide management of ILDs of other systemic autoimmune
Nina Goldman +2 more
wiley +1 more source
The effect of vitamin D3 and thyroid hormones on the capillaroscopy-confirmed microangiopathy in pediatric patients with a suspicion of systemic connective tissue disease-a single-center experience with Raynaud phenomenon [PDF]
, 2021 Katarzyna Kapten +2 more
openalex +1 more source
A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage [PDF]
, 2019 Porphyria cutanea tarda (PCT) is the most common type of porphyria, presenting in middle-aged patients with a photodistributed vesiculobullous eruption, milia, and scars.
Brinster, NK +4 more
core
Granulomatous fasciitis followed by morphea profunda: Is granulomatous fasciitis part of a spectrum of deep morphea? A case report and review of the literature. [PDF]
, 2018 Although eosinophilic fasciitis is known to be part of the deep morphea spectrum, this first report of the coexistence of granulomatous fasciitis and morphea profunda suggests that granulomatous fasciitis may also be a part of the spectrum of deep ...
Christensen, Angie +5 more
core +1 more source
Arthritis &Rheumatology, EarlyView.Objective Giant cell arteritis (GCA) is a large‐vessel vasculitis, potentially causing complications such as blindness and strokes. This study aims to gain insights into the pathogenesis of GCA by identifying specific DNA methylation signatures in the arterial tissue of patients with this vasculitis. Methods DNA methylation profiling was analyzed in 79
Gonzalo Borrego‐Yaniz +18 more
wiley +1 more source
Evolution of Mixed Connective Tissue Disease in 7 Years Old Child: Clinical Case
Вопросы современной педиатрии, 2020 Background. Mixed connective tissue disease (Sharp syndrome) is the rare chronic autoimmune pathology combining various features of systemic lupus erythematosus, systemic scleroderma, rheumatoid arthritis, dermatomyositis and high antibody titer to ...
Tamara P. Makarova +6 more
doaj +1 more source