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
1984 1
1985 1
1990 2
1994 1
1997 2
1998 2
2000 2
2001 3
2002 2
2003 2
2004 2
2005 3
2006 3
2008 1
2009 1
2010 6
2011 4
2012 4
2013 8
2014 3
2015 9
2016 10
2017 4
2018 4
2019 12
2020 10
2021 3
2022 9
2023 7
2024 5

Text availability

Article attribute

Article type

Publication date

Search Results

104 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Autosomal recessive congenital ichthyosis 1"
Page 1
Chanarin-Dorfman syndrome.
Kalyon S, Gökden Y, Demirel N, Erden B, Türkyılmaz A. Kalyon S, et al. Turk J Gastroenterol. 2019 Jan;30(1):105-108. doi: 10.5152/tjg.2018.18014. Turk J Gastroenterol. 2019. PMID: 30457558 Free PMC article.
Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipid vacuoles in neutrophils, and was first described by Dorfman in 1974. ...We emphasize that if a patient has unusual findings, …
Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumu …
Neu Laxova syndrome.
Dwivedi T, Gosavi M. Dwivedi T, et al. Indian J Pathol Microbiol. 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. Indian J Pathol Microbiol. 2019. PMID: 30706883
The fetus was sent for pathological examination. At autopsy, fetus had ichthyosis over the scalp and face, depressed nasal bridge, low set ears, microcephaly, slopping forehead, wide interdigital spaces, edema of hands and feet, hypoplastic penis, right leg showed conge …
The fetus was sent for pathological examination. At autopsy, fetus had ichthyosis over the scalp and face, depressed nasal bridge, lo …
Autosomal recessive congenital ichthyosis.
Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Rodríguez-Pazos L, et al. Actas Dermosifiliogr. 2013 May;104(4):270-84. doi: 10.1016/j.adengl.2011.11.021. Epub 2013 Apr 3. Actas Dermosifiliogr. 2013. PMID: 23562412 Free article. Review. English, Spanish.
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and …
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization …
Nail involvement in autosomal recessive congenital ichthyosis.
Zaouak A, Chamli A, Ben Mansour N, Jouini W, Fenniche S, Hammami H. Zaouak A, et al. Clin Dermatol. 2022 Jul-Aug;40(4):388-394. doi: 10.1016/j.clindermatol.2022.02.012. Epub 2022 Feb 15. Clin Dermatol. 2022. PMID: 35181410 Review.
Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous category of nonsyndromic ichthyosis. ...A total of 25 patients with ARCI had a clinical and dermatoscopic review. The mean age was 19.8 years (range, …
Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous category of nonsy …
Chanarin-Dorfman Syndrome: A comprehensive review.
Cakmak E, Bagci G. Cakmak E, et al. Liver Int. 2021 May;41(5):905-914. doi: 10.1111/liv.14794. Epub 2021 Mar 18. Liver Int. 2021. PMID: 33455044 Review.
The Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. This syndrome is associated with a decrease in the lipolysis activity in multiple tissue cells because of recessive mutations in the abhydrolase domain containing …
The Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. This syndrome is associated wi …
Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.
Supsrisunjai C, Bunnag T, Chaowalit P, Boonpuen N, Kootiratrakarn T, Wessagowit V. Supsrisunjai C, et al. Pediatr Dermatol. 2023 Jan;40(1):107-112. doi: 10.1111/pde.15156. Epub 2022 Oct 19. Pediatr Dermatol. 2023. PMID: 36262015
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogenous group of rare keratinization disorders. ...Congenital ichthyosiform erythroderma (CIE) was most common (60.6%), followed by lamellar ichthyosis (18.2%), …
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogenous group of rare keratinization diso …
Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.
Mohamad J, Samuelov L, Assaf S, Malki L, Malovitski K, Meijers O, Adir N, Granot E, Pavlovsky M, Sarig O, Sprecher E. Mohamad J, et al. Am J Med Genet A. 2022 Oct;188(10):2879-2887. doi: 10.1002/ajmg.a.62924. Epub 2022 Aug 3. Am J Med Genet A. 2022. PMID: 35920354
Autosomal recessive congenital ichthyosis (ARCI) refers to a large and genetically heterogenous group of non-syndromic disorders of cornification featuring diffuse scaling. Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (IL …
Autosomal recessive congenital ichthyosis (ARCI) refers to a large and genetically heterogenous group of non-syn …
Lamellar ichthyosis.
Victor F, Schaffer JV. Victor F, et al. Dermatol Online J. 2005 Dec 30;11(4):13. Dermatol Online J. 2005. PMID: 16403385 Free article.
The nature of the scales and the lack of erythroderma in this patient are consistent with a mild form of lamellar ichthyosis (LI). LI and nonbullous congenital ichthyosiform erythroderma (NBCIE) represent phenotypes at the poles of the autosomal rec …
The nature of the scales and the lack of erythroderma in this patient are consistent with a mild form of lamellar ichthyosis ( …
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.
CARI can progress into any one of a spectrum of disorders. Lamellar ichthyosis is characterized by dark, plate (armor)-like scale. ...It may be due to mutations in the gene encoding the intermediate filament proteins keratin 1 and 10. Ichthyosis vulgar …
CARI can progress into any one of a spectrum of disorders. Lamellar ichthyosis is characterized by dark, plate (armor)-like sc …
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
Chiramel MJ, Mathew L, Athirayath R, Chapla A, Sathishkumar D, Mani T, Danda S, George R. Chiramel MJ, et al. Pediatr Dermatol. 2022 May;39(3):420-424. doi: 10.1111/pde.14944. Epub 2022 Apr 12. Pediatr Dermatol. 2022. PMID: 35412663
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) refers to non-syndromic ichthyosis caused by mutations in one of the 13 identified genes. ...RESULTS: Among the 28 patients recruited (M = 17, F = 11), we identified phenotypes of c …
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) refers to non-syndromic ichthyosis caused by …
104 results