Results 91 to 100 of about 1,421 (196)

Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti [PDF]

, 2019
Ichthyosis with confetti (IWC) is a genodermatosis associated with dominant-negative variants in keratin 10 (KRT10) or keratin 1 (KRT1). These frameshift variants result in extended aberrant proteins, localized to the nucleus rather than the cytoplasm ...
Aushev, Magomet, Burger, Bettina, Imahorn, Elias, Itin, Peter H., March, Oliver P., Reichelt, Julia, Renz, Patricia, Spoerri, Iris, Volz, Andreas, Von Arb, Sarah, Wariwoda, Hedwig   +10 more
core   +1 more source

273 Serum interleukin-18 as a disease-specific marker of epidermolytic ichthyosis: a potential therapeutic target [PDF]

, 2022
Osamu Ansai, R Hayashi, T. Miyauchi, Tomoko Katsumi, Tomoki Nishiguchi, Akito Hasegawa, Ken Natsuga, Takushi Nomura, R. Abe   +8 more
openalex   +1 more source

A Family with Palmar and Plantar Hyperkeratosis: A Quiz

Acta Dermato-Venereologica, 2020
is missing (Quiz)
Hazem A. Juratli, Sabine Jägle, Rudolf Happle, Pinar Avci, Dario Didona, Judith Fischer   +5 more
doaj   +1 more source

843 Atypical epidermolytic palmoplantar keratoderma is a mild phenotypic variant of epidermolytic ichthyosis: A new proposal from ultrastructural observations and pro-inflammatory cytokine analyses [PDF]

, 2023
O. Ansai, R. Hayashi, T. Katsumi, T. Miyauchi, K. Okuyama, S. Shibata, S. Shinkuma, K. Natsuga, T. Nomura, R. Abe, M. Ito   +10 more
openalex   +1 more source

LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome [PDF]

, 2017
SPINK5, encoding the putative multi-domain serine protease inhibitor LEKTI, was recently identified as the defective gene in the severe autosomal recessive ichthyosiform skin condition, Netherton syndrome (NS). Using monoclonal and polyclonal antibodies,
Al Saati, Talal, Bitoun, Emmanuelle, Bodemer, Christine, Bonnart, Chrystelle, Boralevi, Franck, Cobbold, Christian, D'Alessio, Marina, Harper, John, Hohl, Daniel, Hovnanian, Alain, Lamant, Laurence, Mariotti, Feliciana, Mazereeuw-Hautier, Juliette, Micheloni, Alessia, Tartaglia-Polcini, Alessandro   +14 more
core  

Epidermal nevi and epidermolytic hyperkeratosis: A review of cases, highlighting indications for biopsy and genetics referral

Pediatric Dermatology, Volume 41, Issue 5, Page 780-785, September/October 2024.
Abstract Epidermal nevi are common benign cutaneous hamartomas that may rarely demonstrate histopathologic evidence of epidermolytic hyperkeratosis (EHK), representing cutaneous mosaicism for pathogenic keratin variants. Rarely, individuals with linear epidermal nevi transmit to their children the inherited form of EHK, also known as epidermolytic ...
Jessie M. Nelson, Jacqueline M. Isaac, Julie E. Mervak, Jennifer B. Mancuso, May P. Chan, Amanda Arreola, Kelly B. Cha   +6 more
wiley   +1 more source

Clinical Spectrum of Congenital Ichthyosis in Pediatric Age Group from a Tertiary Care Center in India

Indian Journal of Paediatric Dermatology
Objective: Ichthyosis is a disorder of cornification, which can be acquired or inherited, and encompasses various forms of generalized scaling and superficial roughness of the skin secondary to impaired skin barrier.
Vibhu Mendiratta, Damini Verma, Himadri, Apaopa Jemima Thekho, Ayushman Bindal   +4 more
doaj   +1 more source

X‐linked ichthyosis presenting with cryptorchidism for orchidopexy: A rare anesthetic encounter and case report

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message Cutaneous scaling and associated clinical syndrome displayed in X‐linked ichthyosis mandates multidisciplinary care. Patient with ichthyosis confronts a numerous challenge to an anesthesiologist and demands a rigorous management.
Sunil Bhatta, Sukriti Pandit, Pratik Chaudhary, Naresh Thapa Chhetri   +3 more
wiley   +1 more source

UPDATED MOLECULAR GENETICS AND PATHOGENESIS OF ICHTHYOSES [PDF]

, 2011
2011-08Research into the molecular genetics and pathomechanisms of ichthyoses have advanced considerably, resulting in the identification of several causative genes and molecules underlying the disease.
42169, AKIYAMA, MASASHI
core  

Epidermolytic hyperkeratosis: clinical update

Clinical, Cosmetic and Investigational Dermatology, 2019
Denice Peter Rout,* Anushka Nair,* Anand Gupta, Piyush KumarAmity Institute of Biotechnology, Amity University Mumbai, Navi Mumbai, India*These authors contributed equally to this workAbstract: Epidermolytic hyperkeratosis (EHK), earlier termed as ...
Peter Rout D, Nair A, Gupta A, Kumar P
doaj