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Quoted phrase not found in phrase index: "Autosomal recessive congenital ichthyosis 2"
Page 1
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 …
Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
Akiyama M. Akiyama M. J Dermatol Sci. 2006 May;42(2):83-9. doi: 10.1016/j.jdermsci.2006.01.003. Epub 2006 Feb 14. J Dermatol Sci. 2006. PMID: 16481150 Free article. Review.
Autosomal recessive congenital ichthyoses (ARCI) include several severe subtypes including harlequin ichthyosis (HI), lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma. ...Transglutaminse 1 deficiency was re …
Autosomal recessive congenital ichthyoses (ARCI) include several severe subtypes including harlequin 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.
Clinical presentation, pattern of inheritance, and laboratory evaluation may establish a precise diagnosis, which can assist in prognosis and genetic counseling. Congenital autosomal recessive ichthyosis (CARI) usually presents at birth, often as a col …
Clinical presentation, pattern of inheritance, and laboratory evaluation may establish a precise diagnosis, which can assist in prognosis an …
Bathing suit ichthyosis.
Trindade F, Fiadeiro T, Torrelo A, Hennies HC, Hausser I, Traupe H. Trindade F, et al. Eur J Dermatol. 2010 Jul-Aug;20(4):447-50. doi: 10.1684/ejd.2010.1008. Epub 2010 Jun 3. Eur J Dermatol. 2010. PMID: 20522418 Review.
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive lamellar ichthyosis due to transglutaminase-1 (TGase-1) gene mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling rest …
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive lamellar ichthyosis due to transgl …
Nonsyndromic types of ichthyoses - an update.
Traupe H, Fischer J, Oji V. Traupe H, et al. J Dtsch Dermatol Ges. 2014 Feb;12(2):109-21. doi: 10.1111/ddg.12229. Epub 2013 Oct 11. J Dtsch Dermatol Ges. 2014. PMID: 24119255 Free article. Review.
It is caused by steroid sulfatase deficiency and is often associated with further clinical problems, such as cryptorchidism (20%) or social communication deficits, such as attention deficit hyperactivity syndrome (40%) or autism (25%). Autosomal recessive congeni …
It is caused by steroid sulfatase deficiency and is often associated with further clinical problems, such as cryptorchidism (20%) or social …
Congenital diaphragmatic hernia and early lethality in PIGL-related disorder.
Winter-Paquette LM, Al Suwaidi HH, Sajjad Y, Bricker L. Winter-Paquette LM, et al. Eur J Med Genet. 2022 May;65(5):104501. doi: 10.1016/j.ejmg.2022.104501. Epub 2022 Apr 1. Eur J Med Genet. 2022. PMID: 35378319
Key features included: left-sided congenital diaphragmatic hernia, inferior vermian dysgenesis/hypoplasia, prenasal edema, cleft palate, micropenis/ambiguous genitalia (in 2 of 3 babies), bilateral renal pelvic dilatation (in twins, first baby showed slightly enlarg …
Key features included: left-sided congenital diaphragmatic hernia, inferior vermian dysgenesis/hypoplasia, prenasal edema, cleft pala …
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 …
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
Youssefian L, Vahidnezhad H, Saeidian AH, Touati A, Sotoudeh S, Mahmoudi H, Mansouri P, Daneshpazhooh M, Aghazadeh N, Hesari KK, Basiri M, Londin E, Kumar G, Zeinali S, Fortina P, Uitto J. Youssefian L, et al. Hum Mutat. 2019 Mar;40(3):288-298. doi: 10.1002/humu.23695. Epub 2019 Jan 16. Hum Mutat. 2019. PMID: 30578701
Autosomal recessive congenital ichthyosis (ARCI), a phenotypically heterogeneous group of non-syndromic Mendelian disorders of keratinization, is caused by mutations in as many as 13 distinct genes. ...Phenotype-genotype correlations allowed assignment …
Autosomal recessive congenital ichthyosis (ARCI), a phenotypically heterogeneous group of non-syndromic Mendelia …
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.
Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-Deutsch O, Harel A, Mashiach Y, Sarig O, Sprecher E. Israeli S, et al. Clin Exp Dermatol. 2013 Dec;38(8):911-6. doi: 10.1111/ced.12148. Epub 2013 Apr 26. Clin Exp Dermatol. 2013. PMID: 23621129
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is the term given to a complex and heterogeneous group of cornification disorders associated with mutations in at least eight distinct genes. ...RESULTS: In total, 20 families with ARCI were …
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is the term given to a complex and heterogeneous gr …
Harlequin fetus: A case report.
Londhe MM, Patil TV, Suryawanshi KH. Londhe MM, et al. Indian J Pathol Microbiol. 2022 Apr-Jun;65(2):462-464. doi: 10.4103/IJPM.IJPM_1150_20. Indian J Pathol Microbiol. 2022. PMID: 35435396 Free article.
Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases reported in India. It is inherited in an autosomal recessive fashion. The importance of antenatal diagnosis by ultrasonography, …
Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases re …
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