Results 101 to 110 of about 29,876 (307)
Ichthyosis: A Harbinger of Lymphoma [PDF]
BMJ Case Reports, 2018 A 60-year-old, previously healthy woman presented with patchy skin colour change and dryness for 3 months duration. She also gave a history of recurrent boils requiring local and oral antibiotics. On examination, patchy hyperpigmented skin with scaly appearance was apparent along with features of healed and active infection (figure 1).
Kundan Mishra +4 more
openaire +3 more sources
Filaggrin failure – from ichthyosis vulgaris to atopic eczema and beyond
British Journal of Dermatology, 2016 The main proteinaceous component of the keratohyalin granules within the granular layer keratinocytes of the epidermis is the giant, repetitive polyprotein profilaggrin.
W. McLean
semanticscholar +1 more source
Plastics in dermatology: A review and solutions
Journal of the European Academy of Dermatology and Venereology, EarlyView.This review explores the environmental and health impacts of plastics, particularly microplastics in dermatological products. It discusses the plastic life cycle, routes of exposure, health risks and provides science‐based recommendations to reduce plastic use in dermatology.
Eugene Tan, Susanne Saha, Dennis Niebel
wiley +1 more source
Gaucher disease, state of the art and perspectives
Journal of Internal Medicine, EarlyView.Abstract Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD.
Fabrice Camou, Marc G. Berger
wiley +1 more source
Italian Journal of Pediatrics, 2020 Background Harlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, associated with severe morbidity and potentially lethal in early life.
Cinzia Auriti +8 more
doaj +1 more source
From Dysplasia to Carcinoma: Expression Patterns of Dermokine, Matriptase, and Tryptase in OPMD
Oral Diseases, EarlyView.ABSTRACT Background The malignant transformation of oral potentially malignant disorders (OPMDs) lacks reliable molecular markers. Dermokine and matriptase are involved in epithelial differentiation and inflammation, while tryptase is associated with the tumor microenvironment, which may contribute to carcinogenesis.
Lara Maria Alencar Ramos Innocentini +9 more
wiley +1 more source
Indian Journal of Paediatric Dermatology, 2018 Bathing suit ichthyosis (BSI) is a rare, autosomal recessive form of congenital ichthyosis. The phenotypic expression of this unique form of ichthyosis is limited to the involvement of bathing suit area owing to the temperature-sensitive mutation of ...
Sahana M Srinivas +2 more
doaj +1 more source
Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene
Pediatric Dermatology, EarlyView.ABSTRACT We report on a novel pathogenic genetic variant in compound heterozygosis of the NIPAL4 gene c.396C>Gp.(Ile132Met); additionally, we comment on key clinical findings that contribute to the expansion of the EKVP phenotype in childhood.
Luis Fernando Sánchez‐Espino +5 more
wiley +1 more source
Targeting matriptase in breast cancer abrogates tumour progression via impairment of stromal-epithelial growth factor signalling. [PDF]
, 2015 Matriptase is an epithelia-specific membrane-anchored serine protease that has received considerable attention in recent years because of its consistent dysregulation in human epithelial tumours, including breast cancer.
Bergum, Christopher +11 more
core +1 more source
Pediatric Dermatology, EarlyView.ABSTRACT Peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) syndrome (OMIM616295) is an exceptionally rare autosomal recessive genodermatosis caused by loss‐of‐function pathogenic variants in the CAST gene, encoding calpastatin.
Fiona Haxho +7 more
wiley +1 more source