Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin.
genetic conditions
References
Akiyama M, Sakai K, Sugiyama-Nakagiri Y, Yamanaka Y, McMillan JR, Sawamura D, Niizeki H, Miyagawa S, Shimizu H. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis withmoderate clinical severity. J Invest Dermatol. 2006 Jul;126(7):1518-23.
Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K,Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery bycorrective gene transfer. J Clin Invest. 2005 Jul;115(7):1777-84.
Akiyama M. The pathogenesis of severe congenital ichthyosis of the neonate. J Dermatol Sci. 1999 Sep;21(2):96-104. Review.
Hovnanian A. Harlequin ichthyosis unmasked: a defect of lipid transport. JClin Invest. 2005 Jul;115(7):1708-10. Review.
Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA,Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP,Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT,Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Mutations in ABCA12 underlie the severe congenital skin disease harlequinichthyosis. Am J Hum Genet. 2005 May;76(5):794-803.
Moskowitz DG, Fowler AJ, Heyman MB, Cohen SP, Crumrine D, Elias PM, WilliamsML. Pathophysiologic basis for growth failure in children with ichthyosis: anevaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr. 2004 Jul;145(1):82-92.
Richard G. Autosomal Recessive Congenital Ichthyosis. 2001 Jan 10 [updated2017 May 18]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1420/
Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E,Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP. ABCA12 is the major harlequin ichthyosisgene. J Invest Dermatol. 2006 Nov;126(11):2408-13.
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?