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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 (
Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous category of nonsy
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
Akiyama M. Akiyama M. Hum Mutat. 2010 Oct;31(10):1090-6. doi: 10.1002/humu.21326. Hum Mutat. 2010. PMID: 20672373 Review.
Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). ...ABCA12 is a keratinocyte …
Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin icht
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. Herman ML, et al. Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Hum Mutat. 2009. PMID: 19241467 Free PMC article. Review.
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. ...We report 23 novel mutations: 71 (62%) missense; 20 (17%) nonsense; 9 (8%) deletion; 8 (7%) splice-site, and 7 (6%) insertion. Th
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. ...We
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 …
Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.
Liu JJ, Yuan YY, Zhang XQ, Li ZM, Xu YS, Gao SM, Cai JF, Shao XH, Lin XH, Li BX. Liu JJ, et al. Clin Exp Dermatol. 2015 Jan;40(1):56-62. doi: 10.1111/ced.12410. Epub 2014 Aug 22. Clin Exp Dermatol. 2015. PMID: 25154629 Review.
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of diseases of keratinization, characterized primarily by abnormal skin scaling over the whole body surface. Recently, ARCI has been designated to include the major f …
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of diseases of keratinizat …