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.
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Icahn School of Medicine at Mount Sinai
New York, United States
Northwestern University
Evanston, United States
Novartis (Switzerland)
Basel, Switzerland
Yale University
New Haven, United States
Regeneron (United States)
Tarrytown, United States
Rockefeller University
New York, United States
Inserm
Paris, France
Washington University in St. Louis
St Louis, United States
Stanford University
Stanford, United States
Eli Lilly (United States)
Indianapolis, United States
References
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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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The Impact of the Coordination between Healthcare and Educational Personnel on the Health and Inclusion of Children and Adolescents with Rare Diseases.
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Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.
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It's more than just lubrication of the skin: parents' experiences of caring for a child with ichthyosis.
Daae E, Feragen KB, Sitek JC, von der Lippe C
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Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
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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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Current opinion in anaesthesiology 2022; (35(3)):419-424 doi:10.1097/ACO.0000000000001136.
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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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BMC medical genomics 2022; (15(1)):165 doi:10.1186/s12920-022-01319-4.
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Treatments for Non-Syndromic Inherited Ichthyosis, Including Emergent Pathogenesis-Related Therapy.
Hasbani DJ, Hamie L, Eid E, et al.
American journal of clinical dermatology 2022; (23(6)):853-867 doi:10.1007/s40257-022-00718-8.
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Dupilumab improves clinical symptoms in children with Netherton syndrome by suppressing Th2-mediated inflammation.
Yan S, Wu X, Jiang J, et al.
Frontiers in immunology 2022; (13()):1054422 doi:10.3389/fimmu.2022.1054422.
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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.
Jaffar H, Shakir Z, Kumar G, Ali IF
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.
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Biomolecules 2023; (13(4)) doi:10.3390/biom13040634.
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Collodion baby with ectropion in a Syrian newborn: a case report study.
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Annals of medicine and surgery (2012) 2023; (85(5)):1902-1905 doi:10.1097/MS9.0000000000000382.
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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.
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Overcoming Barriers to Autologous Stem Cell Transplantation in Multiple Myeloma: Recommendations from a Multidisciplinary Roundtable Discussion.
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Transplantation and cellular therapy 2023; (29(11)):666-673 doi:10.1016/j.jtct.2023.08.028.
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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.
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Genes 2023; (14(10)) doi:10.3390/genes14101925.
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Severe Hypernatremia as Presentation of Netherton Syndrome.
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Global medical genetics 2023; (10(4)):335-338 doi:10.1055/s-0043-1776983.
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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.
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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.
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Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency.
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Congenital ichthyosis presentation and outcome - A case series.
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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.
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Rare diseases: challenges and opportunities for research and public health.
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A fatal case of Harlequin ichthyosis: Experience from low-resource setting.
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Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.
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Molecular genetics & genomic medicine 2024; (12(5)):e2431 doi:10.1002/mgg3.2431.
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Atopic Dermatitis Disease Education.
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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.
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Fischer J, Hotz A, Komlosi K
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Hair follicles modulate skin barrier function.
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Cell reports 2024; (43(7)):114347 doi:10.1016/j.celrep.2024.114347.
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Vitamin D Supplementation in Congenital Ichthyosis: A Case Series.
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Advances in skin & wound care 2024; (37(8)):440-443 doi:10.1097/ASW.0000000000000179.
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Specification of variant interpretation guidelines for inherited retinal dystrophy in Japan.
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Japanese journal of ophthalmology 2024; (68(4)):389-399 doi:10.1007/s10384-024-01063-5.
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Pediatric urology patient transition to adulthood: Brief report on the barriers and shortcomings in a resource poor state.
Showalter VC, Salazar AC, Wilson JM, Ming JM
Health care transitions 2024; (2()):100062 doi:10.1016/j.hctj.2024.100062.
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[Systemic therapies for pediatric patients with ichthyosis].
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Dermatologie (Heidelberg, Germany) 2025; (76(4)):193-201 doi:10.1007/s00105-025-05484-2.
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[Translated article] ICHTHYOSIS: Clinical and Molecular Update. Part 1: Introduction and Non-Syndromic Ichthyoses.
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Safety of Petroleum-Based Emollients in Pediatric Atopic Dermatitis.
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Risk of De Novo Inflammatory Bowel Disease in Patients With Psoriasis and Psoriatic Arthritis Treated With IL-17A Inhibitors: A Population-Based Study.
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A case report and literature review of self-improving collodion baby in the newborn.
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Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
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The British journal of dermatology 2025; (193(4)):619-641 doi:10.1093/bjd/ljaf154.
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First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report.
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Understanding the experiences of adults with spinal muscular atrophy & their transition to an adult program: A mixed methods study.
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