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Page 1
Ichthyoses--Part 2: Congenital ichthyoses.
Krug M, Oji V, Traupe H, Berneburg M. Krug M, et al. J Dtsch Dermatol Ges. 2009 Jul;7(7):577-88. doi: 10.1111/j.1610-0387.2008.06970.x. J Dtsch Dermatol Ges. 2009. PMID: 19192162 Review. English, German.
Additionally, distinctive cutaneous inflammation can often be observed. For most of the patients these diseases lead to a significant restriction in quality of life. ...
Additionally, distinctive cutaneous inflammation can often be observed. For most of the patients these diseases lead to a significant …
Netherton syndrome: Temporary response to dupilumab.
Aktas M, Salman A, Apti Sengun O, Comert Ozer E, Hosgoren Tekin S, Akin Cakici O, Demir G, Ergun T. Aktas M, et al. Pediatr Dermatol. 2020 Nov;37(6):1210-1211. doi: 10.1111/pde.14362. Epub 2020 Sep 19. Pediatr Dermatol. 2020. PMID: 32951242
We achieved temporary improvement only during the initial 6 weeks of treatment with dupilumab, which differs from the sustained improvement observed in 2 other recently published cases. Although the clinical presentation of atopy and increased pre-allergic cytokines in NS …
We achieved temporary improvement only during the initial 6 weeks of treatment with dupilumab, which differs from the sustained improvement …
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.
Significant differences in secukinumab- vs. placebo-treated subjects at Wk16 in the Ichthyosis Area Severity Index (IASI) score and lack of increased mucocutaneous bacterial and/or fungal infections were the co-primary efficacy and safety endpoints, respectively. ...PARTIC …
Significant differences in secukinumab- vs. placebo-treated subjects at Wk16 in the Ichthyosis Area Severity Index (IASI) score and l …
Distinct skin microbiome community structures in congenital ichthyosis.
Tham KC, Lefferdink R, Duan K, Lim SS, Wong XFCC, Ibler E, Wu B, Abu-Zayed H, Rangel SM, Del Duca E, Chowdhury M, Chima M, Kim HJ, Lee B, Guttman-Yassky E, Paller AS, Common JEA. Tham KC, et al. Br J Dermatol. 2022 Oct;187(4):557-570. doi: 10.1111/bjd.21687. Epub 2022 Jul 4. Br J Dermatol. 2022. PMID: 35633118 Free PMC article.
Malassezia slooffiae, by contrast, was strikingly increased at all body sites in participants with congenital ichthyosiform erythroderma (CIE) and lamellar ichthyosis (LI). ...What does this study add? A common skin microbiome signature was observed ac …
Malassezia slooffiae, by contrast, was strikingly increased at all body sites in participants with congenital ichthyosiform …
The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.
Abeni D, Rotunno R, Diociaiuti A, Giancristoforo S, Bonamonte D, Filoni A, Schepis C, Siragusa M, Neri I, Virdi A, Castiglia D, Zambruno G, Bodemer C, El Hachem M. Abeni D, et al. Acta Derm Venereol. 2021 Jun 22;101(6):adv00477. doi: 10.2340/00015555-3822. Acta Derm Venereol. 2021. PMID: 33954798 Free PMC article.
A total of 94 patients were recruited, of whom 52 (55.3%) children. Mean age was 20.1 (median 13.5) years. The mean CDLQI/DLQI score was 7.8, and 21 patients scored >10, indicating a major impairment in quality of life: symptoms, feelings and treatment problems were the …
A total of 94 patients were recruited, of whom 52 (55.3%) children. Mean age was 20.1 (median 13.5) years. The mean CDLQI/DLQI score …
The molecular genetics of keratin disorders.
Smith F. Smith F. Am J Clin Dermatol. 2003;4(5):347-64. doi: 10.2165/00128071-200304050-00005. Am J Clin Dermatol. 2003. PMID: 12688839 Review.
Epidermolysis bullosa simplex (EBS) was the first human disorder to be associated with keratin mutations. The abnormal keratin filament aggregates observed in basal cell keratinocytes of some EBS patients are composed of keratins K5 and K14. ...Identification of mutations …
Epidermolysis bullosa simplex (EBS) was the first human disorder to be associated with keratin mutations. The abnormal keratin filament aggr …
Juvenile Open Angle Glaucoma With Nonbullous Congenital Ichthyosiform Erythroderma.
Ichhpujani P, Thakur S, Kumar S, Singh RB. Ichhpujani P, et al. J Glaucoma. 2018 Nov;27(11):e180-e182. doi: 10.1097/IJG.0000000000001016. J Glaucoma. 2018. PMID: 29952820
INTRODUCTION: Glaucoma in patients with nonbullous congenital ichthyosiform erythroderma (NBCIE) is a rare entity that has not been described in a histologically confirmed case. ...More gene linkage-based analysis are, however, needed to further confirm our …
INTRODUCTION: Glaucoma in patients with nonbullous congenital ichthyosiform erythroderma (NBCIE) is a rare entity that …
An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis.
Paller AS, Renert-Yuval Y, Suprun M, Esaki H, Oliva M, Huynh TN, Ungar B, Kunjravia N, Friedland R, Peng X, Zheng X, Estrada YD, Krueger JG, Choate KA, Suárez-Fariñas M, Guttman-Yassky E. Paller AS, et al. J Allergy Clin Immunol. 2017 Jan;139(1):152-165. doi: 10.1016/j.jaci.2016.07.019. Epub 2016 Aug 20. J Allergy Clin Immunol. 2017. PMID: 27554821 Free PMC article.
METHODS: We analyzed biopsy specimens from 21 genotyped patients with ichthyosis (congenital ichthyosiform erythroderma, n = 6; lamellar ichthyosis, n = 7; epidermolytic ichthyosis, n = 5; and Netherton syndrome, n = 3) using immunohistochemistry and RT-PCR a …
METHODS: We analyzed biopsy specimens from 21 genotyped patients with ichthyosis (congenital ichthyosiform erythroderma …
A multicenter study on quality of life of the "greater patient" in congenital ichthyoses.
Abeni D, Rotunno R, Diociaiuti A, Giancristoforo S, Bonamonte D, Schepis C, Neri I, Castiglia D, Zambruno G, El Hachem M. Abeni D, et al. Orphanet J Rare Dis. 2021 Oct 20;16(1):440. doi: 10.1186/s13023-021-02085-9. Orphanet J Rare Dis. 2021. PMID: 34670609 Free PMC article.
Forty-eight (61.5%) patients were aged less than 18 years. The mean FDLQI score was 10.3 (median 10), and the most affected dimensions were (1) time needed for care, (2) extra-housework, and (3) household expenditure. Higher total FDLQI score significantly correlate …
Forty-eight (61.5%) patients were aged less than 18 years. The mean FDLQI score was 10.3 (median 10), and the most affected dimension …
Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.
Rahman SB, Mir A, Ahmad N, Haider SH, Malik SA, Nasir M. Rahman SB, et al. Congenit Anom (Kyoto). 2019 May;59(3):93-98. doi: 10.1111/cga.12303. Epub 2018 Jul 18. Congenit Anom (Kyoto). 2019. PMID: 29935003 Free PMC article.
Non-bullous congenital ichthyosiform erythroderma (NCIE) is characterized by skin scaling with erythema. ...We identified a nonsense homozygous c.2026C>T mutation of ALOXE3, causing premature termination of the eLOX3 protein (p.Q676X). In silico studies …
Non-bullous congenital ichthyosiform erythroderma (NCIE) is characterized by skin scaling with erythema. ...We identifi …
95 results