Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
1996 1
1997 1
1999 4
2001 1
2002 1
2003 4
2004 1
2005 2
2008 1
2009 1
2010 1
2017 2
2018 2
2022 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

26 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Epidermolytic hyperkeratosis 1"
Page 1
Epidermolytic Ichthyosis Sine Epidermolysis.
Eskin-Schwartz M, Drozhdina M, Sarig O, Gat A, Jackman T, Isakov O, Shomron N, Samuelov L, Malchin N, Peled A, Vodo D, Hovnanian A, Ruzicka T, Koshkin S, Harmon RM, Koetsier JL, Green KJ, Paller AS, Sprecher E. Eskin-Schwartz M, et al. Am J Dermatopathol. 2017 Jun;39(6):440-444. doi: 10.1097/DAD.0000000000000674. Am J Dermatopathol. 2017. PMID: 28121638 Free PMC article.
Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required to correctly direct …
Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epid …
Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.
Vahlquist A, Fischer J, Törmä H. Vahlquist A, et al. Am J Clin Dermatol. 2018 Feb;19(1):51-66. doi: 10.1007/s40257-017-0313-x. Am J Clin Dermatol. 2018. PMID: 28815464 Free PMC article. Review.
Irrespective of etiology, virtually all types of ichthyosis exhibit a defective epidermal barrier that constitutes the driving force for hyperkeratosis, skin scaling, and inflammation. In nonsyndromic forms, these features are most evident in severe autosomal recessive con …
Irrespective of etiology, virtually all types of ichthyosis exhibit a defective epidermal barrier that constitutes the driving force for …
Ichthyosis: etiology, diagnosis, and management.
DiGiovanna JJ, Robinson-Bostom L. DiGiovanna JJ, et al. Am J Clin Dermatol. 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. Am J Clin Dermatol. 2003. PMID: 12553849 Review.
Congenital ichthyosiform erythroderma is another phenotype within CARI, marked by generalized redness and fine white scale. Epidermolytic hyperkeratosis is an autosomal dominant disorder characterized by hyperkeratosis and blistering, and at least six clinica …
Congenital ichthyosiform erythroderma is another phenotype within CARI, marked by generalized redness and fine white scale. Epidermolytic …
Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
Mo R, Lin M, Lee M, Yan W, Wang H, Lin Z. Mo R, et al. J Eur Acad Dermatol Venereol. 2022 Oct;36(10):1857-1862. doi: 10.1111/jdv.18189. Epub 2022 May 12. J Eur Acad Dermatol Venereol. 2022. PMID: 35490383
BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is characterized by diffuse hyperkeratosis affecting palms and soles with suprabasal epidermolysis or vacuolar degeneration histopathologically. ...Dominant-negative mutations in KRT1 could also result in …
BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is characterized by diffuse hyperkeratosis affecting palms and soles …
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders.
Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L. Ross R, et al. J Am Acad Dermatol. 2008 Jul;59(1):86-90. doi: 10.1016/j.jaad.2008.02.031. J Am Acad Dermatol. 2008. PMID: 18571597 Free PMC article. Review.
BACKGROUND: The clinical condition generalized epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is an autosomal dominant disorder and presents as a bullous disease of the newborn followed by an ichthyotic skin disorder throu …
BACKGROUND: The clinical condition generalized epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform er …
A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis.
Affolter VK, Kiener S, Jagannathan V, Nagle T, Leeb T. Affolter VK, et al. PLoS One. 2022 Oct 17;17(10):e0275367. doi: 10.1371/journal.pone.0275367. eCollection 2022. PLoS One. 2022. PMID: 36251712 Free PMC article.
The dog showed generalized scaling, alopecia and footpad lesions. Histopathological examinations demonstrated a non-epidermolytic hyperkeratosis. The parents of the affected puppy did not show any skin lesions. ...Missense variants affecting the homologous asparagin …
The dog showed generalized scaling, alopecia and footpad lesions. Histopathological examinations demonstrated a non-epidermolytic …
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
Serra G, Memo L, Cavicchioli P, Cutrone M, Giuffrè M, La Torre ML, Schierz IAM, Corsello G. Serra G, et al. Ital J Pediatr. 2022 Aug 13;48(1):145. doi: 10.1186/s13052-022-01336-0. Ital J Pediatr. 2022. PMID: 35964051 Free PMC article.
BACKGROUND: Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. ...CASES PRESENTATION …
BACKGROUND: Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and h …
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
Sprecher E, Yosipovitch G, Bergman R, Ciubutaro D, Indelman M, Pfendner E, Goh LC, Miller CJ, Uitto J, Richard G. Sprecher E, et al. J Invest Dermatol. 2003 Apr;120(4):623-6. doi: 10.1046/j.1523-1747.2003.12084.x. J Invest Dermatol. 2003. PMID: 12648226 Free article.
In this study, we report two novel frameshift mutations that are predicted to alter the tail of keratin 1 or keratin 5, leading to an atypical form of epidermolytic hyperkeratosis and a mild form of epidermolysis bullosa simplex, respectively. Mutation analys …
In this study, we report two novel frameshift mutations that are predicted to alter the tail of keratin 1 or keratin 5, leading to an …
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR. Rothnagel JA, et al. Science. 1992 Aug 21;257(5073):1128-30. doi: 10.1126/science.257.5073.1128. Science. 1992. PMID: 1380725
Epidermolytic hyperkeratosis is a hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. ...In two other families, affected individuals had mutations in the highly conserved amino terminal of the rod domain of keratin 10 …
Epidermolytic hyperkeratosis is a hereditary skin disorder characterized by blistering and a marked thickening of the stratum …
26 results