Results 101 to 110 of about 31,665 (304)
Journal of Dermatology and Dermatologic Surgery, 2016 Autosomal recessive congenital ichthyosis (ARCI), is a rare form of ichthyosis with multiple mutations identified. Ichthyin (NIPAL4) gene mutation is identified in about 18% of cases.
Yousef Binamer
doaj +1 more source
Analysis of biomedical and health queries: Lessons learned from TREC and CLEF evaluation benchmarks [PDF]
, 2015 International audienceBACKGROUND:Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described.
Chouquet, Cécile +2 more
core +2 more sources
Bullae and Scales in a Newborn
JEADV Clinical Practice, EarlyView.
Hamad El Hajj +3 more
wiley +1 more source
Dermatologic Features of Endocrine Tumor Syndromes—Systematic Review and Meta‐Analysis
International Journal of Dermatology, EarlyView.ABSTRACT Endocrine tumor syndromes, including multiple endocrine neoplasia types 1, 2A, and 2B (MEN1, MEN2A, MEN2B), Carney complex (CNC), and PTEN hamartoma tumor syndrome (PHTS), are hereditary conditions characterized by multisystem tumor development.
Sára Pálla +8 more
wiley +1 more source
Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene
Dermatologica Sinica, 2018 Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák +4 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
A case of ichthyosis hystrix: Unusual manifestation of this rare disease
Indian Journal of Dermatology, 2014 Ichthyosis hystrix is a term used to describe an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales mainly over extensor aspects of limbs with palmoplantar keratoderma and occasionally associated with deafness and neurological
Projna Biswas +5 more
doaj +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
Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations [PDF]
, 2019 In higher organisms, epithelia separate compartments in order to guarantee their proper function. Such structures are able to seal but also to allow substances to pass.
Fernández-Rodríguez, Cármen +3 more
core +1 more source
Pediatric Dermatology, EarlyView.ABSTRACT Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin (DSP).
Sepideh Hamzehlou +7 more
wiley +1 more source