Results 51 to 60 of about 7,987 (210)
Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. [PDF]
Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species.
Jeong, SY +11 more
core +1 more source
Systematic review (51 studies; 547 patients) indicates dupilumab may unmask/worsen CTCL (mainly MF/SS). A French Delphi consensus recommends rigorous diagnostic workup, avoiding dupilumab in confirmed CTCL, discontinuing upon diagnosis, and favouring methotrexate or phototherapy.
Florent Amatore +8 more
wiley +1 more source
ABSTRACT Background Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac desmosome disease, as more than 50% of affected patients carry pathogenic variants in desmosome protein‐coding genes. In this study, we focused on the role and mechanisms of pathogenic and non‐pathogenic autoantibodies against intercalated disc (ICD) proteins such as ...
Soumyata Pathak +15 more
wiley +1 more source
Ectodermal dysplasia-skin fragility syndrome: A rare case report
Ectodermal dysplasia/skin fragility syndrome (ED-SFS) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating ...
Subhash Kashyap +2 more
doaj +1 more source
Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia
Cellular Mechanism behind WNT10A phenotypes. ABSTRACT WNT10A mutations, a major genetic determinant of dental agenesis and ectodermal dysplasia, exert profound effects on craniofacial development. Although classified as rare disorders, these mutations account for more than half of oligodontia cases, reflecting their critical role.
Perennes Elise +5 more
wiley +1 more source
Bullous Congenitalichthyosiform Erythroderma - PS 1 Type
We describe a case of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) with severe transgradient type of palmoplantar keratoderma. It occurred in a thirty year old man, who was born out of first degree consanguineous marriage.
Dave Shriya +2 more
doaj
We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD), which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO) syndrome.
Gunjan Verma, Kabir Sardana, R K Gautam
doaj +1 more source
SLURP2 Enlarges Adipocytes and Induces IL‐23‐Producing Macrophages in Murine Dermal Adipose Tissue
ABSTRACT Dermal adipocytes have unique features different from visceral and subcutaneous adipocytes. Their cyclic remodelling is coupled with hair follicle (HF) cycling: expansion in the anagen and reduction in the catagen stages. Secreted Ly6/uPAR related protein 2 (SLURP2) is a non‐neuronal transmitter and a ligand of both nicotinic and muscarinic ...
Hitomi Tsuji, Tomotaka Mabuchi
wiley +1 more source
ABSTRACT Recent publications reporting increased cutaneous T‐cell lymphoma (CTCL) risk with dupilumab in atopic dermatitis (AD) have sparked debate, amplified by media coverage linking dupilumab to lymphoma. These concerns have reached pediatric populations, where we observe increasing parental hesitancy about initiating dupilumab for their children ...
Maria Gnarra Buethe +2 more
wiley +1 more source
Unilateral Linear Punctate Palmoplantar Keratoderma: A Case Report
Punctate palmoplantar keratoderma (PPPK) is a rare entity with an estimated prevalence rate of 1.17/100,000. PPPK usually presents with bilateral asymptomatic, tiny, hyperkeratotic punctate papules and plaques on the palmoplantar surface.
Chanisa Kiatsurayanon +5 more
doaj +1 more source

