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New developments in the molecular treatment of ichthyosis: review of the literature.
Joosten MDW, Clabbers JMK, Jonca N, Mazereeuw-Hautier J, Gostyński AH. Joosten MDW, et al. Orphanet J Rare Dis. 2022 Jul 15;17(1):269. doi: 10.1186/s13023-022-02430-6. Orphanet J Rare Dis. 2022. PMID: 35840979 Free PMC article. Review.
Furthermore, a lot of case series report that biological therapeutics are effective treatment options, mainly for Netherton syndrome and autosomal recessive congenital ichthyosis. It is expected that some of these new therapies will prove …
Furthermore, a lot of case series report that biological therapeutics are effective treatment options, mainly for Netherton syndrome …
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 …
Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.
Glick JB, Craiglow BG, Choate KA, Kato H, Fleming RE, Siegfried E, Glick SA. Glick JB, et al. Pediatrics. 2017 Jan;139(1):e20161003. doi: 10.1542/peds.2016-1003. Epub 2016 Dec 20. Pediatrics. 2017. PMID: 27999114 Review.
Harlequin ichthyosis (HI) is the most severe phenotype of the autosomal recessive congenital ichthyoses. ...Historically, infants with HI did not survive beyond the neonatal period; however, recent advances in neonatal intensive care and coordin …
Harlequin ichthyosis (HI) is the most severe phenotype of the autosomal recessive congenital ichthyoses. ...Hist …
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 c …
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) refers to non-syndromic ichthyosis caused by …
Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.
Vahlquist A, Fischer J, Törmä H. Vahlquist A, et al. Am J Clin Dermatol. 2018 Feb;19(1):51-66. doi: 10.1007/s40257-017-0313-x. Am J Clin Dermatol. 2018. PMID: 28815464 Free PMC article. Review.
In nonsyndromic forms, these features are most evident in severe autosomal recessive congenital ichthyosis (ARCI) and epidermolytic ichthyosis, but to some extent also occur in the common type of non-congenital ichthyosis. A correc …
In nonsyndromic forms, these features are most evident in severe autosomal recessive congenital ichthyosis (ARCI …
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 and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.
Ennouri M, Zimmer AD, Bahloul E, Chaabouni R, Marrakchi S, Turki H, Fakhfakh F, Bougacha-Elleuch N, Fischer J. Ennouri M, et al. BMC Med Genomics. 2022 Jan 5;15(1):4. doi: 10.1186/s12920-021-01154-z. BMC Med Genomics. 2022. PMID: 34983512 Free PMC article.
Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-syndromic forms. ...METHODS: A total of 11 Tunisian patients with non-syndromic (8 with ARCI and 2 with ILC) and autosomal syndromic …
Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non- …
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.
Self-healing collodion baby (SHCB), also called "self-improving collodion baby", is a rare mild variant of autosomal recessive congenital ichthyosis and is defined as a collodion baby who shows the nearly complete resolution of scaling within the first …
Self-healing collodion baby (SHCB), also called "self-improving collodion baby", is a rare mild variant of autosomal recessive …
Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA. Simpson JK, et al. Br J Dermatol. 2020 Mar;182(3):729-737. doi: 10.1111/bjd.18211. Epub 2019 Aug 26. Br J Dermatol. 2020. PMID: 31168818
BACKGROUND: Recessive forms of congenital ichthyosis encompass a group of rare inherited disorders of keratinization leading to dry, scaly skin. ...Recessive forms of ichthyosis are rare but often difficult to diagnose. ...
BACKGROUND: Recessive forms of congenital ichthyosis encompass a group of rare inherited disorders of keratinization le …
Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature.
Clabbers J, van Oosten NV, Bolling M, Vreeburg M, van Geel M, Steijlen P, Gostynski A. Clabbers J, et al. Dermatology. 2024;240(1):170-177. doi: 10.1159/000533934. Epub 2023 Sep 4. Dermatology. 2024. PMID: 37666225 Free article. Review.
METHODS: Nine women of childbearing age (19-31 years, median 21) with different subtypes of ichthyosis (autosomal recessive congenital ichthyosis, (superficial) epidermolytic ichthyosis, erythrokeratoderma variabilis, and epidermolytic ep …
METHODS: Nine women of childbearing age (19-31 years, median 21) with different subtypes of ichthyosis (autosomal recessive …
16 results