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
1985 1
1994 1
1999 1
2002 2
2003 1
2008 1
2009 1
2012 1
2013 1
2016 1
2017 4
2019 1
2020 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

14 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Ichthyosis, congenital, autosomal recessive 12"
Page 1
Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA. Simpson JK, et al. Br J Dermatol. 2020 Mar;182(3):729-737. doi: 10.1111/bjd.18211. Epub 2019 Aug 26. Br J Dermatol. 2020. PMID: 31168818
BACKGROUND: Recessive forms of congenital ichthyosis encompass a group of rare inherited disorders of keratinization leading to dry, scaly skin. ...Mutations in 13 genes are known to cause recessive forms of ichthyosis: ABCA12, ALOX12B, ALOXE3, …
BACKGROUND: Recessive forms of congenital ichthyosis encompass a group of rare inherited disorders of keratinization le …
Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.
Glick JB, Craiglow BG, Choate KA, Kato H, Fleming RE, Siegfried E, Glick SA. Glick JB, et al. Pediatrics. 2017 Jan;139(1):e20161003. doi: 10.1542/peds.2016-1003. Epub 2016 Dec 20. Pediatrics. 2017. PMID: 27999114 Review.
Harlequin ichthyosis (HI) is the most severe phenotype of the autosomal recessive congenital ichthyoses. ...
Harlequin ichthyosis (HI) is the most severe phenotype of the autosomal recessive congenital ichthyoses. ...
Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma.
Williams ML, Elias PM. Williams ML, et al. Arch Dermatol. 1985 Apr;121(4):477-88. doi: 10.1001/archderm.121.4.477. Arch Dermatol. 1985. PMID: 3977371
Nonbullous congenital ichthyosiform erythroderma (CIE) and classic lamellar ichthyosis (LI) can be distinguished by clinical, histopathologic, and biochemical findings reported herein. ...These clinical, histologic, and biochemical findings provide useful gui …
Nonbullous congenital ichthyosiform erythroderma (CIE) and classic lamellar ichthyosis (LI) can be distinguished by cli …
Harlequin Ichthyosis - A Case Report.
Ugezu CH, Mazumdar A, Dunn E, Das A. Ugezu CH, et al. Ir Med J. 2017 Aug 8;110(7):606. Ir Med J. 2017. PMID: 29341518
Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA …
Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both s …
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. Farasat S, et al. J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23. J Med Genet. 2009. PMID: 18948357 Free PMC article.
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary disorder of cornification. ...A logistic model was developed, which predicted that individuals with collodion membrane, alopecia and/or eye problems are about four …
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary disorder of cornification. ... …
Prenatal sonographic features of Harlequin ichthyosis.
Berg C, Geipel A, Kohl M, Krokowski M, Baschat AA, Germer U, Gembruch U. Berg C, et al. Arch Gynecol Obstet. 2003 Apr;268(1):48-51. doi: 10.1007/s00404-002-0333-4. Epub 2002 Jul 6. Arch Gynecol Obstet. 2003. PMID: 12673476 Review.
Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance. ...
Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive …
Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene.
Washio K, Sumi M, Nakata K, Fukunaga A, Yamana K, Koda T, Morioka I, Nishigori C, Yamanishi K. Washio K, et al. J Dermatol. 2017 Aug;44(8):950-953. doi: 10.1111/1346-8138.13823. Epub 2017 Mar 11. J Dermatol. 2017. PMID: 28295493
Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, with a high mortality rate. ...Here, we present a case of HI who was successfully treated with early administration of etretinate and showed good …
Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, with a hi …
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
Bastaki F, Mohamed M, Nair P, Saif F, Mustafa EM, Bizzari S, Al-Ali MT, Hamzeh AR. Bastaki F, et al. Int J Dermatol. 2017 May;56(5):514-523. doi: 10.1111/ijd.13568. Epub 2017 Feb 24. Int J Dermatol. 2017. PMID: 28236338
BACKGROUND: Clinical and molecular heterogeneity is a prominent characteristic of congenital ichthyoses, with the involvement of numerous causative loci. Mutations in these loci feature in autosomal recessive congenital ichthyoses (ARCIs) quite variabl …
BACKGROUND: Clinical and molecular heterogeneity is a prominent characteristic of congenital ichthyoses, with the involvement of nume …
Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.
Liu JW, Guo K, Zhang R, Wang R, Ma DL, Zhang X. Liu JW, et al. Mol Genet Genomic Med. 2024 May;12(5):e2431. doi: 10.1002/mgg3.2431. Mol Genet Genomic Med. 2024. PMID: 38702946 Free PMC article. Review.
There are four types of non-syndromic hereditary ichthyoses, among which autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of recessive Mendelian disorders. ARCI present with different phenotypes and ABCA12 pathogenic var …
There are four types of non-syndromic hereditary ichthyoses, among which autosomal recessive congenital ichthyosis …
Effect of topical tazarotene in the treatment of congenital ichthyoses.
Hofmann B, Stege H, Ruzicka T, Lehmann P. Hofmann B, et al. Br J Dermatol. 1999 Oct;141(4):642-6. doi: 10.1046/j.1365-2133.1999.03101.x. Br J Dermatol. 1999. PMID: 10583110
The clinical efficacy and tolerability of the topical receptor-selective retinoid tazarotene in the treatment of congenital ichthyoses was investigated. Twelve consecutive patients with different forms of congenital ichthyosis were enrolled in an open, non-ra …
The clinical efficacy and tolerability of the topical receptor-selective retinoid tazarotene in the treatment of congenital ichthyose …
14 results