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2000 4
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136 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.
Included in autosomal recessive congenital ichthyosis are three of the major phenotypes (harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma) and three of the minor subtypes (self-healing collodion baby, acral self-healing coll …
Included in autosomal recessive congenital ichthyosis are three of the major phenotypes (harlequin ichthyosis, lamellar ichthyosis and co …
Autosomal recessive congenital ichthyosis.
Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Rodríguez-Pazos L, et al. Actas Dermosifiliogr. 2013 May;104(4):270-84. doi: 10.1016/j.adengl.2011.11.021. Epub 2013 Apr 3. Actas Dermosifiliogr. 2013. PMID: 23562412 Free article. Review. English, Spanish.
This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathing suit ichthyosis. .. …
This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but …
Types of congenital nonsyndromic ichthyoses.
Pinkova B, Buckova H, Borska R, Fajkusova L. Pinkova B, et al. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020 Dec;164(4):357-365. doi: 10.5507/bp.2020.050. Epub 2020 Oct 21. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020. PMID: 33087941 Free article. Review.
Genetic skin diseases.
Francis JS. Francis JS. Curr Opin Pediatr. 1994 Aug;6(4):447-53. doi: 10.1097/00008480-199408000-00016. Curr Opin Pediatr. 1994. PMID: 7951667 Review.
A type of lamellar ichthyosis may be explained on the basis of abnormal cornified cell envelope formation, and bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) is caused by mutations in keratins K1 or K10....
A type of lamellar ichthyosis may be explained on the basis of abnormal cornified cell envelope formation, and bullous congenital …
What's New in Genetic Skin Diseases.
Hill CR, Theos A. Hill CR, et al. Dermatol Clin. 2019 Apr;37(2):229-239. doi: 10.1016/j.det.2018.11.004. Dermatol Clin. 2019. PMID: 30850045 Review.
Ichthyoses: differential diagnosis and molecular genetics.
Oji V, Traupe H. Oji V, et al. Eur J Dermatol. 2006 Jul-Aug;16(4):349-59. Eur J Dermatol. 2006. PMID: 16935789 Review.
Special attention is given to lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma. The different pathomechanisms causing ichthyosis provide a fascinating insight into the role of various proteins, enzymes, lipids and metabolic pathways i …
Special attention is given to lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma. The different …
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.
Ichthyosis: clinical manifestations and practical treatment options.
Oji V, Traupe H. Oji V, et al. Am J Clin Dermatol. 2009;10(6):351-64. doi: 10.2165/11311070-000000000-00000. Am J Clin Dermatol. 2009. PMID: 19824737 Review.
Ichthyosis vulgaris and recessive X-linked ichthyosis are common disorders - often of delayed onset, in contrast to congenital ichthyoses, which belong to the group of rare diseases and present at birth with either the features of collodion membrane or congenital ichthy …
Ichthyosis vulgaris and recessive X-linked ichthyosis are common disorders - often of delayed onset, in contrast to congenital ichthyoses, w …
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.
This disease is often caused by mutations in the gene encoding the enzyme transglutaminase 1. Congenital ichthyosiform erythroderma is another phenotype within CARI, marked by generalized redness and fine white scale. ...
This disease is often caused by mutations in the gene encoding the enzyme transglutaminase 1. Congenital ichthyosiform eryt …
Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.
Lefferdink R, Rangel SM, Chima M, Ibler E, Pavel AB, Kim H, Wu B, Abu-Zayed H, Wu J, Jackson K, Singer G, Choate KA, Guttman-Yassky E, Paller AS. Lefferdink R, et al. Arch Dermatol Res. 2023 Mar;315(2):305-315. doi: 10.1007/s00403-022-02325-3. Epub 2022 Feb 26. Arch Dermatol Res. 2023. PMID: 35218370 Free PMC article. Clinical Trial.
PARTICIPANTS: Twenty subjects 18 yo with genotype-confirmed epidermolytic ichthyosis, Netherton syndrome, lamellar ichthyosis, or congenital ichthyosiform erythroderma with at least moderate erythroderma. ...
PARTICIPANTS: Twenty subjects 18 yo with genotype-confirmed epidermolytic ichthyosis, Netherton syndrome, lamellar ichthyosis, or congeni …
136 results