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PubMed This is a summary of 105 peer-reviewed journal articles Updated

Research & Literature

Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.

Explore the Literature Visualize citation networks across 105 referenced papers

Top Authors

Emma Guttman‐Yassky
Icahn School of Medicine at Mount Sinai
Masashi Akiyama
Kitasato Institute Hospital
Amy S. Paller
Northwestern University
Judith Fischer
University of Freiburg
Takuya Takeichi
Nagoya University Hospital
David Rosmarin
Tufts University
Marius Ardeleanu
Regeneron (United States)
Keith A. Choate
Stanford University
Domenica Taruscio
Istituto Superiore di Sanità
Sophie Nutten
Nestlé (Switzerland)

Top Institutions

Ranked by publications Top 10 institutions

References

References (105)
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    Management of Epidermolytic Ichthyosis in the Newborn.

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    Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.

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    Congenital Ichthyosis: A Case Treated Successfully With Acitretin.

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    The Major Orphan Forms of Ichthyosis Are Characterized by Systemic T-Cell Activation and Th-17/Tc-17/Th-22/Tc-22 Polarization in Blood.

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    A Unique Preparation and Delivery Method for Acitretin for Neonatal Harlequin Ichthyosis.

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    Two Cases of Chronic Candidiasis in Keratitis-Ichthyosis-Deafness Syndrome.

    Bartenstein D, Chung HJ, Hussain S

    The American Journal of dermatopathology 2018; (40(10)):e138-e141 doi:10.1097/DAD.0000000000001178.

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    Long-term safety and efficacy of continuous acitretin monotherapy for three children with different severe hyperkeratotic disorders in China.

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    Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.

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    Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis.

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    Profiling Immune Expression to Consider Repurposing Therapeutics for the Ichthyoses.

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    ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids.

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    A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

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    Pharmacological treatments for cutaneous manifestations of inherited ichthyoses.

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    Ischemic Risk in Collodion Baby: An Orthopaedic Perspective.

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    Ichthyoses in everyday practice: management of a rare group of diseases.

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    Ichthyosis: A Road Model for Skin Research.

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    Surgical management of the highly edematous conjunctiva due to ectropion in a 3-year-old collodion baby.

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    Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

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    A novel SPINK5 donor splice site variant in a child with Netherton syndrome.

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    KID Syndrome and Hidradenitis Suppurativa: A Rare Association Responding to Surgical Treatment.

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    Trichorrhexis invaginata and ichthyosiform erythroderma in netherton syndrome.

    Ahmadian Heris J, Nouri-Vaskeh M, Soroureddin Z, Noroozi Guilandehi S

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    Reductive Effect of Acitretin on Blood Glucose Levels in Chinese Patients With Psoriasis.

    Qian H, Kuang Y, Su J, et al.

    Frontiers in medicine 2021; (8()):764216 doi:10.3389/fmed.2021.764216.

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    Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.

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    Lack of reactivation of tuberculosis in patients with psoriasis treated with secukinumab in a real-world setting of latent tuberculosis infection.

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    It's more than just lubrication of the skin: parents' experiences of caring for a child with ichthyosis.

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    Health psychology and behavioral medicine 2022; (10(1)):335-356 doi:10.1080/21642850.2022.2053685.

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    Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.

    Chiramel MJ, Mathew L, Athirayath R, et al.

    Pediatric dermatology 2022; (39(3)):420-424 doi:10.1111/pde.14944.

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    How to optimize the perioperative care of patients with orphan diseases: what the anesthesiologist needs to know.

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    Rarely mentioned: how we arrived at the quantitative definition of a rare disease.

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    Small touches to big walks -the impact of rehabilitation on Sjögren-Larsson syndrome: A case report.

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    X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene.

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    Treatments for Non-Syndromic Inherited Ichthyosis, Including Emergent Pathogenesis-Related Therapy.

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    Dupilumab improves clinical symptoms in children with Netherton syndrome by suppressing Th2-mediated inflammation.

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    The Effects of Acitretin on Insulin Resistance, Glucose Metabolism, and Lipid Levels in Patients with Psoriasis.

    Sachdev SS, Jamil A, Gunabalasingam P, Safdar NA

    Indian journal of dermatology 2022; (67(4)):349-354 doi:10.4103/ijd.ijd_328_21.

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    Novel mixed-method, inclusive protocol involving global key stakeholders, including carers as experts, to co-develop relevant Caregiver-Reported Outcome Domains (CRODs) in skin disease.

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    BMJ open 2023; (13(1)):e068893 doi:10.1136/bmjopen-2022-068893.

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    Ichthyosis vulgaris: An updated review.

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    Skin health and disease 2023; (3(1)):e187 doi:10.1002/ski2.187.

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    Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.

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    International journal of dermatology 2023; (62(5)):672-680 doi:10.1111/ijd.16614.

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    A Case Report of a Collodion Baby: An Autosomal Recessive Genodermatosis.

    Quazi S, Singh A, Khan K, Biyani U

    Cureus 2023; (15(4)):e37418 doi:10.7759/cureus.37418.

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    Dupilumab in Inflammatory Skin Diseases: A Systematic Review.

    Olbrich H, Sadik CD, Ludwig RJ, et al.

    Biomolecules 2023; (13(4)) doi:10.3390/biom13040634.

    PMID: 37189381
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    Collodion baby with ectropion in a Syrian newborn: a case report study.

    Soqia J, Mohamad L, Aloqla NA, et al.

    Annals of medicine and surgery (2012) 2023; (85(5)):1902-1905 doi:10.1097/MS9.0000000000000382.

    PMID: 37229057
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    JAK Inhibition in Juvenile Idiopathic Arthritis (JIA): Better Understanding of a Promising Therapy for Refractory Cases.

    Melki I, Frémond ML

    Journal of clinical medicine 2023; (12(14)) doi:10.3390/jcm12144695.

    PMID: 37510809
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    Overcoming Barriers to Autologous Stem Cell Transplantation in Multiple Myeloma: Recommendations from a Multidisciplinary Roundtable Discussion.

    Bashir Q, Braunstein M, Buck T, et al.

    Transplantation and cellular therapy 2023; (29(11)):666-673 doi:10.1016/j.jtct.2023.08.028.

    PMID: 37661071
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    STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review.

    Park J, Cho YG, Kim JK, Kim HH

    Genes 2023; (14(10)) doi:10.3390/genes14101925.

    PMID: 37895274
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    Severe Hypernatremia as Presentation of Netherton Syndrome.

    Di Nora A, Consentino MC, Messina G, et al.

    Global medical genetics 2023; (10(4)):335-338 doi:10.1055/s-0043-1776983.

    PMID: 38025195
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    Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.

    Chegini M, Eslami M, Motavaf M, et al.

    Archives of dermatological research 2023; (316(1)):24 doi:10.1007/s00403-023-02775-3.

    PMID: 38060040
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    Case report: Interleukin-17 targeted biological therapy in netherton syndrome.

    Mahajan R, Bakshi S, Kumar A, et al.

    Frontiers in pediatrics 2023; (11()):1297658 doi:10.3389/fped.2023.1297658.

    PMID: 38094185
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    Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency.

    Cordisco A, Lozza V, Di Marco C, et al.

    Pediatric dermatology 2024; (41(3)):512-514 doi:10.1111/pde.15506.

    PMID: 38156659
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    Congenital ichthyosis presentation and outcome - A case series.

    Ansari QA, Singh VA, Randad KG, Bansal P

    Journal of family medicine and primary care 2023; (12(11)):2990-2993 doi:10.4103/jfmpc.jfmpc_1080_23.

    PMID: 38186783
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    Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother.

    Aubry RL, Innes AM, Haber RM

    SAGE open medical case reports 2024; (12()):2050313X241231386 doi:10.1177/2050313X241231386.

    PMID: 38333515
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    Rare diseases: challenges and opportunities for research and public health.

    Taruscio D, Gahl WA

    Nature reviews. Disease primers 2024; (10(1)):13 doi:10.1038/s41572-024-00505-1.

    PMID: 38424095
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    A fatal case of Harlequin ichthyosis: Experience from low-resource setting.

    Vella V, Maulida M, Earlia N, et al.

    Narra J 2023; (3(3)):e302 doi:10.52225/narra.v3i3.302.

    PMID: 38455615
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    Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.

    Liu JW, Guo K, Zhang R, et al.

    Molecular genetics & genomic medicine 2024; (12(5)):e2431 doi:10.1002/mgg3.2431.

    PMID: 38702946
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    Atopic Dermatitis Disease Education.

    Sy W, Bhayana M, Lamb AJ

    Advances in experimental medicine and biology 2024; (1447()):209-215 doi:10.1007/978-3-031-54513-9_17.

    PMID: 38724795
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    Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.

    Fioretti T, Martora F, De Maggio I, et al.

    Biomedicines 2024; (12(5)) doi:10.3390/biomedicines12051112.

    PMID: 38791074
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    Syndromic ichthyoses.

    Fischer J, Hotz A, Komlosi K

    Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 2023; (35(1)):23-32 doi:10.1515/medgen-2023-2006.

    PMID: 38835422
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    Hair follicles modulate skin barrier function.

    Ford NC, Benedeck RE, Mattoon MT, et al.

    Cell reports 2024; (43(7)):114347 doi:10.1016/j.celrep.2024.114347.

    PMID: 38941190
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    Vitamin D Supplementation in Congenital Ichthyosis: A Case Series.

    Hemrajani P, Sharma M, B C SK, Somkuwar R

    Advances in skin & wound care 2024; (37(8)):440-443 doi:10.1097/ASW.0000000000000179.

    PMID: 39037099
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    Specification of variant interpretation guidelines for inherited retinal dystrophy in Japan.

    Fujinami K, Nishiguchi KM, Oishi A, et al.

    Japanese journal of ophthalmology 2024; (68(4)):389-399 doi:10.1007/s10384-024-01063-5.

    PMID: 39078460
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