Results 51 to 60 of about 18,146 (216)

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

Clinical Case Reports
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
doaj   +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

Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.

American Journal of Human Genetics, 2019
We describe unrelated individuals with ichthyosis, failure to thrive, thrombocytopenia, photophobia, and progressive hearing loss. Each have bi-allelic mutations in AP1B1, the gene encoding the β subunit of heterotetrameric adaptor protein 1 (AP-1 ...
L. Boyden, L. Atzmony, C. Hamilton, Jing Zhou, Young H Lim, R. Hu, J. Pappas, R. Rabin, Joseph Ekstien, Yoel Hirsch, J. Prendiville, R. Lifton, S. Ferguson, K. Choate   +13 more
semanticscholar   +1 more source

Validation of the German version of Infants and Toddlers Dermatology Quality of Life (InToDermQoL) Questionnaire

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and Objectives Skin diseases can greatly impair quality of life (QoL) of pediatric patients and their families. The Infants and Toddlers Dermatology Quality of Life questionnaire (InToDermQoL) is the first skin‐generic instrument assessing QoL in children ≤ 4 years, as reported by their caregiver. This study aimed to psychometrically
Juliane Traxler, Neuza da Silva Burger, Matthias Augustin, Hagen Ott, Sanna Hoffmann, Regina Fölster‐Holst, Maria Baumeister, Petra Staubach, Rachel Sommer   +8 more
wiley   +1 more source

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source

Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India

Indian Journal of Dermatology, 2017
Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes.
Arghyaprasun Ghosh, Rahul Ahar, Gobinda Chatterjee, Neha Sharma, Shruti Alhad Jadhav   +4 more
doaj   +1 more source

Keratitis-ichthyosis-deafness syndrome with heterozygous p.D50N in the GJB2 gene in two Serbian adult patients

Balkan Journal of Medical Genetics, 2023
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural hearing loss.
Kalezić T, Vuković I, Stojković M, Stanojlović S, Karanović J, Brajušković G, Savić-Pavićević D   +6 more
doaj   +1 more source

Burden of itch in ichthyosis: a multicentre study in 94 patients

Journal of the European Academy of Dermatology and Venereology, 2019
From clinical experience, we know that itch is a major concern for many ichthyosis patients. Nonetheless, no previous studies specifically addressed the issue of itch in ichthyosis.
A. Palma, Juliette Mazereeuw-Hautier, K. Giehl, Á. Hernández-Martín, M. Merlos, P. Moons, M. Morren, M. Morren   +7 more
semanticscholar   +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, Mateus Gonçalves Miranda, Carol Kobori da Fonseca, Pedro Franco Ferreira, Leandro Dorigan de Macedo, Graziela Cavalcanti, Luiz Carlos Conti de Freitas, Ana Carolina Fragoso Motta, Alan Grupioni Lourenço, Katiuchia Uzzun Sales   +9 more
wiley   +1 more source

Atypical Presentation of Sjögren-Larsson Syndrome

Case Reports in Pediatrics, 2017
Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal
D. Papathemeli, A. Mataftsi, A. Patsatsi, D. Sotiriadis, M. Samouilidou, S. Chondromatidou, A. Evangeliou   +6 more
doaj   +1 more source