Below are the most recent publications written about "Ichthyosiform Erythroderma, Congenital" by people in Profiles.
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Paller AS, Browning J, Parish LC, Bunick CG, Rome Z, Bhatia N. Safety, tolerability, and efficacy of a novel topical isotretinoin formulation for the treatment of X-linked or lamellar congenital ichthyosis: Results from a phase 2a proof-of-concept study. J Am Acad Dermatol. 2022 11; 87(5):1189-1191.
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Mohamad J, Samuelov L, Malchin N, Rabinowitz T, Assaf S, Malki L, Malovitski K, Israeli S, Grafi-Cohen M, Bitterman-Deutsch O, Molho-Pessach V, Cohen-Barak E, Bach G, Garty BZ, Bergman R, Harel A, Nanda A, Lestringant GG, McGrath J, Shalev S, Shomron N, Mashiah J, Eskin-Schwartz M, Sprecher E, Sarig O. Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population. Exp Dermatol. 2021 09; 30(9):1290-1297.
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Uitto J, Youssefian L, Saeidian AH, Vahidnezhad H. Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis. Acta Derm Venereol. 2020 Mar 25; 100(7):adv00095.
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Takeichi T, Sugiura K, Tso S, Simpson MA, McGrath JA, Akiyama M. Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome. J Dermatol Sci. 2016 Feb; 81(2):134-6.
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Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Ta?eb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sor?ze 2009. J Am Acad Dermatol. 2010 Oct; 63(4):607-41.
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Geyer AS, Ratajczak P, Pol-Rodriguez M, Millar WS, Garzon M, Richard G. Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5. Dermatology. 2005; 210(4):308-14.
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Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol. 2001 Aug; 117(2):179-87.
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McLean WH, Morley SM, Higgins C, Bowden PE, White M, Leigh IM, Lane EB. Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma. Exp Dermatol. 1999 Apr; 8(2):120-3.
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Ishida-Yamamoto A, McGrath JA, Judge MR, Leigh IM, Lane EB, Eady RA. Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). J Invest Dermatol. 1992 Jul; 99(1):19-26.