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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1981 1
1982 3
1983 1
1986 2
1987 1
1988 1
1989 1
1990 1
1991 1
1992 5
1993 1
1994 2
1995 2
1996 2
1997 1
1998 1
1999 3
2000 4
2001 2
2002 1
2003 3
2004 3
2005 2
2006 4
2008 2
2009 2
2010 2
2011 1
2012 1
2013 8
2014 6
2015 3
2016 6
2017 2
2018 1
2020 4
2021 2
2022 2
2023 4

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85 results

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Page 1
Inherited ichthyosis: Non-syndromic forms.
Takeichi T, Akiyama M. Takeichi T, et al. J Dermatol. 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. J Dermatol. 2016. PMID: 26945532 Review.
Non-syndromic ichthyoses include ichthyosis vulgaris, recessive X-linked ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis and other forms. ...Included in autosomal recessive congenital ichthyosis are …
Non-syndromic ichthyoses include ichthyosis vulgaris, recessive X-linked ichthyosis, autosomal recessive congeni …
[Dermoscopy of genodermatoses].
Plázár D, Joura MI, Kiss N, Medvecz M. Plázár D, et al. Dermatologie (Heidelb). 2023 Apr;74(4):256-261. doi: 10.1007/s00105-023-05124-7. Epub 2023 Mar 7. Dermatologie (Heidelb). 2023. PMID: 36882583 Free PMC article. Review. German.
Genodermatoses are a group of inherited skin diseases whose diagnosis is challenging due to their rarity as well as their clinical and genetic diversity. The majority of genodermatoses are autosomal or X-linked inherited, but mosaic forms are also observed. Genoderm …
Genodermatoses are a group of inherited skin diseases whose diagnosis is challenging due to their rarity as well as their clinical and genet …
Corneal dystrophies.
Klintworth GK. Klintworth GK. Orphanet J Rare Dis. 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. Orphanet J Rare Dis. 2009. PMID: 19236704 Free PMC article. Review.
Corneal dystrophies may have a simple autosomal dominant, autosomal recessive or X-linked recessive Mendelian mode of inheritance. Different corneal dystrophies are caused by mutations in the CHST6, KRT3, KRT12, PIP5K3, SLC4A11, TACSTD2, TGFBI, and UBIAD1 genes. ... …
Corneal dystrophies may have a simple autosomal dominant, autosomal recessive or X-linked recessive Mendelian mode of inherita …
X-linked ichthyosis.
Shapiro LJ. Shapiro LJ. Int J Dermatol. 1981 Jan-Feb;20(1):26-31. doi: 10.1111/j.1365-4362.1981.tb05280.x. Int J Dermatol. 1981. PMID: 7009454 Review. No abstract available.
X-linked ichthyosis: an oculocutaneous genodermatosis.
Fernandes NF, Janniger CK, Schwartz RA. Fernandes NF, et al. J Am Acad Dermatol. 2010 Mar;62(3):480-5. doi: 10.1016/j.jaad.2009.04.028. Epub 2010 Jan 18. J Am Acad Dermatol. 2010. PMID: 20080321 Review.
X-linked ichthyosis (XLI) is an X-linked recessive disorder of cutaneous keratinization with possible extracutaneous manifestations. It was first described as a distinct type of ichthyosis in 1965. XLI is caused by a deficiency in steroid …
X-linked ichthyosis (XLI) is an X-linked recessive disorder of cutaneous keratinization with possible ext …
Inherited ichthyosis: Syndromic forms.
Yoneda K. Yoneda K. J Dermatol. 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. J Dermatol. 2016. PMID: 26945533 Review.
Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. ...Although these syndromes are very rare, Netherton syndrome, Sjogren-Larsson syndrome, Conradi-Hunermann-Happle syndrome, Dorfman …
Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than t …
X-linked ichthyosis: an update.
Hernández-Martín A, González-Sarmiento R, De Unamuno P. Hernández-Martín A, et al. Br J Dermatol. 1999 Oct;141(4):617-27. doi: 10.1046/j.1365-2133.1999.03098.x. Br J Dermatol. 1999. PMID: 10583107 Review.
X-linked ichthyosis is a genetic disorder of keratinization characterized by a generalized desquamation of large, adherent, dark brown scales. ...Diagnosis of patients with X-linked ichthyosis and female carriers is based on biochemical a …
X-linked ichthyosis is a genetic disorder of keratinization characterized by a generalized desquamation of large, adher …
Sulfotransferase 2B1b, Sterol Sulfonation, and Disease.
Cook I, Leyh TS. Cook I, et al. Pharmacol Rev. 2023 May;75(3):521-531. doi: 10.1124/pharmrev.122.000679. Epub 2022 Dec 22. Pharmacol Rev. 2023. PMID: 36549865 Review.
Sterol sulfonation is tightly coupled to cholesterol homeostasis, and sulfonation imbalances are causally linked to cholesterol-related diseases including certain cancers, Alzheimer disease, and recessive X-linked ichthyosis-an orphan skin disease. ... …
Sterol sulfonation is tightly coupled to cholesterol homeostasis, and sulfonation imbalances are causally linked to cholesterol-relat …
Pathogenesis-based therapies in ichthyoses.
Lai-Cheong JE, Elias PM, Paller AS. Lai-Cheong JE, et al. Dermatol Ther. 2013 Jan-Feb;26(1):46-54. doi: 10.1111/j.1529-8019.2012.01528.x. Dermatol Ther. 2013. PMID: 23384020 Free PMC article. Review.
Notably, this strategy has been successfully validated for the treatment of the rare X-linked dominant condition, CHILD syndrome, in which topical applications of cholesterol and lovastatin together to affected skin resulted in marked improvement of the skin phenoty …
Notably, this strategy has been successfully validated for the treatment of the rare X-linked dominant condition, CHILD syndro …
Review: genetics of steroid sulphatase deficiency and X-linked ichthyosis.
Crawfurd MA. Crawfurd MA. J Inherit Metab Dis. 1982;5(3):153-63. doi: 10.1007/BF01800171. J Inherit Metab Dis. 1982. PMID: 6820437 Review.
Steroid sulphatase deficiency which started out as a curious placental microsomal enzyme deficiency associated with low maternal urinary oestrogen excretion and difficulties in delivery, first described only twelve years ago, has now become a generalized enzyme deficiency associa …
Steroid sulphatase deficiency which started out as a curious placental microsomal enzyme deficiency associated with low maternal urinary oes …
85 results