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Page 1
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 …
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 …
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 …
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.
Treatment is with aggressive moisturization. Hydrocortisone creams may be needed to control itch. Recessive X-linked ichthyosis is due to a deficiency of cholesterol sulfatase. ...Controlling the odor is an ongoing issue using antibacterial washes, absorbing powders …
Treatment is with aggressive moisturization. Hydrocortisone creams may be needed to control itch. Recessive X-linked ichthyosis …
[Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification].
Oji V. Oji V. Hautarzt. 2010 Oct;61(10):891-902; quiz 903-4. doi: 10.1007/s00105-010-2018-4. Hautarzt. 2010. PMID: 20827455 Review. German.
It distinguishes basically between non-syndromic and syndromic ichthyoses. The term ARCI/autosomal recessive congenital ichthyosis represents the umbrella for harlequin ichthyosis, lamellar ichthyosis and congenital ichthyos …
It distinguishes basically between non-syndromic and syndromic ichthyoses. The term ARCI/autosomal recessive congenital …
Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils.
Wollenberg A, Geiger E, Schaller M, Wolff H. Wollenberg A, et al. Acta Derm Venereol. 2000 Jan-Feb;80(1):39-43. doi: 10.1080/000155500750012504. Acta Derm Venereol. 2000. PMID: 10721832 Free article. Review.
Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with congenital ichthyotic erythroderma due to an acylglycerol recycling defect. ...Microscopic examination of eosinophils for lipid vacuoles to identify conductors revea …
Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with congenital ichthyotic ery …
[Dorfman-Chanarin syndrome--a neutral lipid storage disease].
Wollenberg A, Schaller M, Röschinger W, Schirren CG, Wolff H. Wollenberg A, et al. Hautarzt. 1997 Oct;48(10):753-8. doi: 10.1007/s001050050656. Hautarzt. 1997. PMID: 9441170 Review. German.
Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with skin manifestations in form of congenital ichthyotic erythroderma. ...Since Dorfman-Chanarin syndrome may present with just skin findings, it should be included in t …
Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with skin manifestations in form of …