Epidermolytic blaschkoid verrucous epidermal nevus: Report of two cases
Indian Journal of Dermatopathology and Diagnostic Dermatology, 2015 Anupam Das +4 more
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A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis
Clinical Case Reports, 2020 Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene.
Francesca Caroppo +5 more
doaj +1 more source
Disseminated epidermolytic acanthoma probably related to trauma [PDF]
, 1999 Epidermolytic acanthoma is a rare benign tumour, which may occur in both isolated and disseminated forms. Only seven cases of disseminated epidermolytic acanthoma (DEA) have been described. This entity should be distinguished from other
España, A. (Agustín) +2 more
core +1 more source
A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis
The Turkish Journal of Pediatrics, 2018 Epidermolytic hyperkeratosis (EHK) is a rare genodermatosis whose prevalence is less than 1 in 100,000. Mutations in either the keratin 1 or keratin 10 genes lead to EHK characterized by congenital erythema and epidermal blisters at birth, followed by ...
Chenyu Zhao +4 more
doaj +1 more source
Dermatology Online Journal, 2006 A 13-year-old boy presented to the dermatology clinic for treatment of a congenital ichthyosis with a history of generalized erythroderma and trauma related blistering at the time of birth. At the time of presentation he was noted to have red corrugated hyperkeratotic plaques involving the joint flexures, dorsal hands, and neck.
Kwak, Juliann, Maverakis, Emanual
openaire +4 more sources
Report of an autosomal recessive epidermolytic ichthyosis
Indian Journal of Paediatric Dermatology, 2020 Epidermolytic ichthyosis (EI) previously named bullous congenital ichthyosiform erythroderma of Brocq or epidermolytic hyperkeratosis (mostly considered as a histological term now) is rare with a variable defect of cornification, clinically characterized
K S Chandan +3 more
doaj +1 more source
Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms [PDF]
, 2015 Research on iRHOM2 in the Kelsell group is funded by an MRC project grant, a MRC Clinical Fellowship (to TM) and a Cancer Research UK program ...
A Ellis +28 more
core +1 more source
Intermediate filament–membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength [PDF]
, 2002 By tethering intermediate filaments (IFs) to sites of intercellular adhesion, desmosomes facilitate formation of a supercellular scaffold that imparts mechanical strength to a tissue.
Amargo, Evangeline V. +11 more
core +4 more sources
The epidermolytic toxins are serine proteases [PDF]
FEBS Letters, 1990 Certain strains of Staphylococcus aureus usually belonging to phage group II produce epidermolytic toxins (ETA and ETB) which cause intraepidermal splitting in mice, neonates and occasionally adults. Amino acid sequences of ETA and ETB have been reported but the mechanism of epidermolysis remains unknown.
Richard Charles Garratt +4 more
openaire +3 more sources
Epidermolytic Ichthyosis Sine Epidermolysis–A Case Report and Molecular Analysis
Journal of Health Science and Medical Research (JHSMR), 2023 Epidermolytic ichthyosis (EI) is a rare genodermatosis disorder. We report a 39-year-old woman with EI, who presented with generalized erythroderma since birth, followed by generalized hyperkeratosis later in life.
Phanitchanat Phusuphitchayanan +2 more
doaj +1 more source