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Ichthyoses: differential diagnosis and molecular genetics.
Oji V, Traupe H. Oji V, et al. Eur J Dermatol. 2006 Jul-Aug;16(4):349-59. Eur J Dermatol. 2006. PMID: 16935789 Review.
Common types such as ichthyosis vulgaris and X-linked recessive ichthyosis manifest after birth. In contrast, rare congenital ichthyoses are inherited diseases, which at birth typically present collodion membranes or ichthyosiform erythroderma. ...Special att …
Common types such as ichthyosis vulgaris and X-linked recessive ichthyosis manifest after birth. In contrast, rare congenital ichthyo …
Ichthyosis with confetti: clinics, molecular genetics and management.
Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G. Guerra L, et al. Orphanet J Rare Dis. 2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4. Orphanet J Rare Dis. 2015. PMID: 26381864 Free PMC article. Review.
Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma. ...Nevertheless, mutational analysis of KRT10 or KRT1 genes is at present the gold stan …
Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital …
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 collodion baby. ...This …
Clinical presentation, pattern of inheritance, and laboratory evaluation may establish a precise diagnosis, which can assist in prognosis an …
Ichthyosis: clinical manifestations and practical treatment options.
Oji V, Traupe H. Oji V, et al. Am J Clin Dermatol. 2009;10(6):351-64. doi: 10.2165/11311070-000000000-00000. Am J Clin Dermatol. 2009. PMID: 19824737 Review.
Ichthyosis vulgaris and recessive X-linked ichthyosis are common disorders - often of delayed onset, in contrast to congenital ichthyoses, which belong to the group of rare diseases and present at birth with either the features of collodion membrane or congenital …
Ichthyosis vulgaris and recessive X-linked ichthyosis are common disorders - often of delayed onset, in contrast to congenital ichthy …
Disorders of keratinization: diagnosis and management.
Shwayder T. Shwayder T. Am J Clin Dermatol. 2004;5(1):17-29. doi: 10.2165/00128071-200405010-00004. Am J Clin Dermatol. 2004. PMID: 14979740 Review.
Checking for signs of contiguous gene disorders (Kallman or Conradi-Hunermann syndromes) is necessary. Bullous congenital ichthyosiform erythroderma is caused by mutations in keratins 1 and/or 10. ...Autosomal recessive ichthyosis is a term for both lamellar …
Checking for signs of contiguous gene disorders (Kallman or Conradi-Hunermann syndromes) is necessary. Bullous congenital ichthyos …
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 congenital ichthyosifo …
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) refers to non-syndromic ichthyosis caused by mutations in one of the 13 …
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J. Hotz A, et al. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. Genes (Basel). 2023. PMID: 36980989 Free PMC article.
The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. ARCI is caused by biallelic mutations in ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1, SDR9C7, SULT2B1, and TGM1. The most severe f …
The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. AR …
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). ...CIE and LI are clinically characterized by fi …
Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin ichthyosis (HI), c …
Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies.
Takeichi T, Ohno Y, Tanahashi K, Ito Y, Shiraishi K, Utsunomiya R, Yoshida S, Ikeda K, Nomura H, Morizane S, Sayama K, Ogi T, Muro Y, Kihara A, Akiyama M. Takeichi T, et al. J Lipid Res. 2022 Dec;63(12):100308. doi: 10.1016/j.jlr.2022.100308. Epub 2022 Nov 1. J Lipid Res. 2022. PMID: 36332686 Free PMC article.
However, during the neonatal period, it is not easy to distinguish SHCB from other inflammatory forms of autosomal recessive congenital ichthyosis, such as congenital ichthyosiform erythroderma. ...Our findings suggest that genetic testing coupled with …
However, during the neonatal period, it is not easy to distinguish SHCB from other inflammatory forms of autosomal recessive congenital …
20 results