Confirmation of the origin of NISCH syndrome - PubMed (original) (raw)
Case Reports
Confirmation of the origin of NISCH syndrome
L Feldmeyer et al. Hum Mutat. 2006 May.
Abstract
Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome, a rare autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis, was described for the first time in 2002. It is caused by a mutation in the gene coding for the tight junction protein claudin-1. Only four patients carrying the same mutation of the CLDN1 gene have been described until now. We report a patient presenting with the clinical characteristics of NISCH syndrome and carrying a novel mutation in the CLDN1 gene.
(c) 2006 Wiley-Liss, Inc.
Similar articles
- Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype.
Nagtzaam IF, van Geel M, Driessen A, Steijlen PM, van Steensel MA. Nagtzaam IF, et al. Br J Dermatol. 2010 Jul;163(1):205-7. doi: 10.1111/j.1365-2133.2010.09794.x. Br J Dermatol. 2010. PMID: 20645982 - Human epidermal Langerhans cells express the tight junction protein claudin-1 and are present in human genetic claudin-1 deficiency (NISCH syndrome).
Zimmerli SC, Kerl K, Hadj-Rabia S, Hohl D, Hauser C. Zimmerli SC, et al. Exp Dermatol. 2008 Jan;17(1):20-3. doi: 10.1111/j.1600-0625.2007.00624.x. Exp Dermatol. 2008. PMID: 18095941 - Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.
Salik D, Hadj-Rabia S, Hohl D, Vahidnezhad H, Youssefian L, Rakosi A, Dangoisse C, Marangoni M, Vilain C, Smits G. Salik D, et al. Pediatr Dermatol. 2022 Jul;39(4):590-593. doi: 10.1111/pde.14976. Epub 2022 Mar 18. Pediatr Dermatol. 2022. PMID: 35304779 - Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature.
Demir E, Tuna Kirsaçlioğlu C, Saltik-Temizel İN, Ürel-Demir G, Karaosmanoğlu B, Taşkiran EZ, Şimşek-Kiper PÖ, Utine GE, Kuloğlu Z, Kansu A. Demir E, et al. Clin Dysmorphol. 2023 Apr 1;32(2):88-91. doi: 10.1097/MCD.0000000000000451. Epub 2023 Feb 13. Clin Dysmorphol. 2023. PMID: 36779798 Review. No abstract available. - Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.
Uitto J, Youssefian L, Saeidian AH, Vahidnezhad H. Uitto J, et al. Acta Derm Venereol. 2020 Mar 25;100(7):adv00095. doi: 10.2340/00015555-3431. Acta Derm Venereol. 2020. PMID: 32147742 Free PMC article. Review.
Cited by
- Nanostructure-Mediated Transport of Therapeutics through Epithelial Barriers.
Hansen ME, Ibrahim Y, Desai TA, Koval M. Hansen ME, et al. Int J Mol Sci. 2024 Jun 28;25(13):7098. doi: 10.3390/ijms25137098. Int J Mol Sci. 2024. PMID: 39000205 Free PMC article. Review. - Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N; O-Rare consortium; Dure-Molla M, Noirrit E, Hernandez M, Joseph-Beaudin C, Lopez S, Tardieu C, Thivichon-Prince B; ERN Cranio Consortium; Dostalova T, Macek M Jr; International Consortium; Alloussi ME, Qebibo L, Morkmued S, Pungchanchaikul P, Orellana BU, Manière MC, Gérard B, Bugueno IM, Laugel-Haushalter V. Bloch-Zupan A, et al. Front Physiol. 2023 May 9;14:1130175. doi: 10.3389/fphys.2023.1130175. eCollection 2023. Front Physiol. 2023. PMID: 37228816 Free PMC article. - The Fate of Epidermal Tight Junctions in the stratum corneum: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions.
Haftek M, Oji V, Feldmeyer L, Hohl D, Hadj-Rabia S, Abdayem R. Haftek M, et al. Int J Mol Sci. 2022 Jul 5;23(13):7486. doi: 10.3390/ijms23137486. Int J Mol Sci. 2022. PMID: 35806491 Free PMC article. - Skin Barriers in Dermal Drug Delivery: Which Barriers Have to Be Overcome and How Can We Measure Them?
Gorzelanny C, Mess C, Schneider SW, Huck V, Brandner JM. Gorzelanny C, et al. Pharmaceutics. 2020 Jul 20;12(7):684. doi: 10.3390/pharmaceutics12070684. Pharmaceutics. 2020. PMID: 32698388 Free PMC article. Review. - Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia.
Alsafri MS, Charbit-Henrion F, Lacaille F, Bourrat E, Steffann J, Hadj-Rabia S. Alsafri MS, et al. Acta Derm Venereol. 2020 Jun 11;100(13):adv00173. doi: 10.2340/00015555-3522. Acta Derm Venereol. 2020. PMID: 32424433 Free PMC article. No abstract available.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Molecular Biology Databases