Results 71 to 80 of about 10,297 (160)
A Novel Substitution in Keratin 10 in Epidermolytic Hyperkeratosis [PDF]
, 1999 Epidermolytic hyperkeratosis is characterized by tonofilament clumping, cytolysis, and blister formation in suprabasal keratinocytes. It has been shown that the tonofilament aggregates in these areas are composed of keratin 1 (K1) and keratin 10 (K10 ...
Rothnagel, J. A. +15 more
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Indian Journal of Dermatopathology and Diagnostic Dermatology, 2015 Changes in the epidermis serve as important histopathological clues to the diagnosis of skin disorders. These peculiar changes are referred to as epidermal reaction patterns.
Aanchal Panth, M Ramam
doaj +1 more source
Bullying in Children With Congenital Ichthyosis
Pediatric Dermatology, Volume 42, Issue 3, Page 499-505, May/June 2025.ABSTRACT Background/Objectives Bullying of children with chronic disorders is associated with an increased risk of depression, anxiety, poor self‐esteem, and suicidal ideation. Congenital ichthyoses are genodermatoses with extensive visible scaling and inflammation.
Andrea M. Rustad +6 more
wiley +1 more source
Gene Editing–Mediated Disruption of Epidermolytic Ichthyosis–Associated KRT10 Alleles Restores Filament Stability in Keratinocytes [PDF]
, 2019 Epidermolytic ichthyosis is a skin fragility disorder caused by dominant-negative mutations in KRT1 or KRT10. No definitive restorative therapies exist that target these genetic faults.
Ablinger, Michael +13 more
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Current surgical treatment options for ocular complications of Stevens-Johnson and Lyell's syndromes [PDF]
Клиническая офтальмология, 2023 V.F. Chernysh, N.N. Haritonova, A.N. Kulikov, P.A. Kacherovich, A.A. Kol'bin S.M. Kirov Military Medical Academy, St. Petersburg, Russian Federation Epidermolytic drug reactions (EDR) are severe acute drug-induced allergic disorders ...
V.F. Chernysh +4 more
doaj
The structure of the Gemella haemolysans M26 IgA1 protease trypsin‐like domain
Acta Crystallographica Section F, Volume 81, Issue 4, Page 124-129, April 2025.The 1.75 Å resolution structure of the G. haemolysans M26 IgA1 protease trypsin‐like domain is presented. The structural data suggest that the domain exists in an inactive pro‐enzyme‐like state when in the context of the full‐length protein. This putative pro‐enzyme may be activated after being N‐terminally excised from the larger M26 enzyme structure ...
Norman Tran +3 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2019 Background Epidermolytic palmoplantar keratoderma (EPPK) is characterized by hyperkeratotic lesions on palms and soles. The disorder is caused by mutations of keratin 9 (KRT9) or KRT1 gene.
Xiaoliang Liu +4 more
doaj +1 more source
Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature
Pediatric Dermatology, Volume 42, Issue 2, Page 305-310, March/April 2025.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.
Sarah Maarouf +3 more
wiley +1 more source
A Case of Disseminated Epidermolytic Acanthoma
, 2007 Epidermolytic acanthoma is an uncommon benign tumor characterized histologically by epidermolytic hyperkeratosis. Clinically, the tumor resembles a verruca or seborrheic keratosis and may occur in either isolated or disseminated forms. Herein, we present
이민걸, 김대석, 김동현
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Mutations in the H1 and 1A Domains in the Keratin 1 Gene in Epidermolytic Hyperkeratosis [PDF]
, 1994 In the autosomal dominant disorder epidermolytic hyperkeratosis, the structural integrity of the keratin intermediate filaments is altered in the suprabasal layers of the epidermis. We and others have used genetic linkage studies and mutation analysis to
Compton, John G +13 more
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