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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
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2023 4
2024 1

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86 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 …
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 …
[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 …
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 genodermatoses from diagnosis to tailored therapy.
Medori MC, Gisondi P, Bellinato F, Bonetti G, Micheletti C, Donato K, Dhuli K, Ergoren MC, Cristofoli F, Cecchin S, Marceddu G, Bertelli M. Medori MC, et al. Clin Ter. 2023 Nov-Dec;174(Suppl 2(6)):236-242. doi: 10.7417/CT.2023.2493. Clin Ter. 2023. PMID: 37994770 Free article. Review.
Our method entailed a systematic exploration of the scientific literature to ensure a compre-hensive and accurate compilation of the available sources. RESULTS: Among genodermatoses, X-linked ones are of particular importance and should always be considered when ped …
Our method entailed a systematic exploration of the scientific literature to ensure a compre-hensive and accurate compilation of the availab …
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 Free PMC article. 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. Numerous s …
Sterol sulfonation is tightly coupled to cholesterol homeostasis, and sulfonation imbalances are causally linked to cholesterol-related dise …
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. ...Interestingly, this region escapes X chromosome inactivation and has the highest ratio of chromosomal deletions a …
X-linked ichthyosis is a genetic disorder of keratinization characterized by a generalized desquamation of large, adher …
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 …
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 …
What's new with common genetic skin disorders?
Hand JL. Hand JL. Curr Opin Pediatr. 2015 Aug;27(4):460-5. doi: 10.1097/MOP.0000000000000245. Curr Opin Pediatr. 2015. PMID: 26164153 Review.
PURPOSE OF REVIEW: Common genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis, basal cell nevus syndrome (BCNS), incontinentia pigmenti, and X-linked ichthyosis have recognizable, cutaneous features. In children, cases often present w …
PURPOSE OF REVIEW: Common genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis, basal cell nevus syndrome (BCNS), in …
86 results