Results 61 to 70 of about 1,421 (196)

Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature. [PDF]

Pediatr Dermatol
ABSTRACT We describe a 1‐day old female with features of keratitis‐ichthyosis‐deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration.
Maarouf S, Clark M, Chen A, Haggstrom A.
europepmc   +2 more sources

A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity. [PDF]

, 2015
Keratin intermediate filaments (KIFs) protect the epidermis against mechanical force, support strong adhesion, help barrier formation, and regulate growth.
Adams, Alam, Alvarado, Arin, Baris, Bianchi, Bligh, Bunick, Bär, Böttinger, Candi, Candi, Capetanaki, Chan, Chernoivanenko, Christina B. Brazel, Chung, Coulombe, Coulombe, Crowe, Dennis R. Roop, Duan, Egberts, Ellis, Epand, Fessing, Fontanesi, Fuchs, Fuchs, Gendronneau, Geng, Habtezion, Haines, Hamanaka, Hans Binder, Hardman, Helenius, Henry Löffler-Wirth, Herrmann, Hesse, Hoefs, Homberg, Homberg, Hornig-Do, Hoste, Hue-Tran Hornig-Do, Huebner, Jamal-Eddine Bouameur, Janina Bär, Jaquemar, Jarnik, Jayaprakash, Kalinin, Kato, Kawasaki, Kerns, Kim, Kim, Kloepper, Koch, Kröger, Kröger, Kuramoto, Kypriotou, Laatsch, Lane, Langbein, Lessard, Lim, Loschke, Macdiarmid, Magin, Matsui, Matsuki, McAleer, Mor-Vaknin, Nakamichi, Nestle, Nicole Schwarz, Nishizawa, Norlén, Oji, Owens, Palmer, Panjwani, Paradies, Peter Seibel, Preethi Vijayaraj, Quigley, Reichelt, Reichelt, Reichelt, Rice, Rice, Rice, Robert H. Rice, Roop, Rorke, Roth, Roth, Rowland, Rudolf E. Leube, Rudolf J. Wiesner, Sabharwal, Sakaguchi, Samuelov, Samuelov, Sandilands, Sandra Heller, Schmuth, Schweizer, Schäfer, Schäfer, Segre, Segre, Seltmann, Seltmann, Seltmann, Sevilla, Signorelli, Simpson, Singla, Smith, Susanne Brodesser, Szeverenyi, Sören Thiering, Takahashi, Tamai, Tao, Tasseva, Tatsuta, Thomas M. Magin, Vijayaraj, Vijayaraj, Vinod Kumar, Wallace, Watt, Yao, Yu, Zeeuwen, Özbalci   +140 more
core   +1 more source

Ichthyoses—A Clinical and Pathological Spectrum from Heterogeneous Cornification Disorders to Inflammation

Dermatopathology, 2021
Ichthyoses are inborn keratinization disorders affecting the skin only (non-syndromic) or are associated with diseases of internal organs (syndromic). In newborns, they can be life-threatening.
Dieter Metze, Heiko Traupe, Kira Süßmuth   +2 more
doaj   +1 more source

Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma [PDF]

Dermatology Online Journal, 2016
Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder.  Other manifestations include palmoplantar keratoderma (PPK).
Austin Smith, Wallace, Cope, Austin, Fernandez, Martin, Parekh, Palak   +3 more
openaire   +4 more sources

Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds

Veterinary Sciences, 2022
The plasticity of the genome is an evolutionary factor in all animal species, including canines, but it can also be the origin of diseases caused by hereditary genetic mutation.
Pablo Jesús Marín-García, Lola Llobat
doaj   +1 more source

Narrowing the Differential: A Unique Case of Dystrophic Epidermolysis Bullosa. [PDF]

Case Rep Pediatr
Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder characterized by mechanical stress‐induced blistering and skin erosion. Diagnosis is confirmed through molecular genetic testing, typically identifying mutations in the COL7A1 gene. DEB can mimic other neonatal dermatologic conditions, making early identification challenging.
Yacobucci L, Edwards C, Oosbree AV, Newman R.   +3 more
europepmc   +2 more sources

Genetic testing and new variants in diagnosis of congenital ichthyoses. [PDF]

Mol Genet Genomic Med
The aim of this study was to evaluate how diagnostic practice in congenital ichthyoses has evolved during the years 2000–2020 and what kind of gene variants of congenital ichthyosis have been found. We observed four novel variants in patients with the clinical diagnoses of congenital ichthyoses.
Salo M, Kimpimäki T, Huhtala H, Saarela T.   +3 more
europepmc   +2 more sources

Generalized and Naevoid Epidermolytic Ichthyosis in Denmark: Clinical and Mutational Findings [PDF]

Acta Dermato Venereologica, 2013
A Danish-Swedish collaboration was established to identify and classify a Danish cohort of patients with epidermolytic ichthyosis, also known as epidermolytic hyperkeratosis. Patients were recruited from 5 dermatology departments in Denmark, and data were obtained using a structured questionnaire and a systematic examination together with photographs ...
Bygum, Anette, Virtanen, Marie, Brandrup, Flemming, Gånemo, Agneta, Sommerlund, Mette, Strauss, Gitte, Vahlquist, Anders   +6 more
openaire   +5 more sources

Annular epidermolytic ichthyosis

Dermatology Online Journal, 2003
A 21-year-old woman presented to the Charles C. Harris Skin and Cancer Pavilion with a life-long history of palmoplantar keratoderma that was accompanied by episodic flares of polycyclic psoriasiform patches diffusely over the rest of her body. A biopsy specimen of a representative skin lesion showed epidermolytic hyperkeratosis.
openaire   +4 more sources

Genetics of inherited skin disorders in dogs [PDF]

, 2022
Canine genodermatoses represent a broad spectrum of diseases with diverse phenotypes. Modern genetic technology including whole genome sequencing has expedited the identification of novel genes and greatly simplified the establishment of genetic ...
Leeb, Tosso, Roosje, Petra, Welle, Monika   +2 more
core   +1 more source