407 top medical experts on Ichthyosis across 56 countries and 29 U.S. states, including 249 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Ichthyosis: Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Diseases Newborn Infant (2,780), Keratosis (2,394), Skin Abnormalities (2,933) and Narrower Categories: Congenital Ichthyosiform Erythroderma (975), Ichthyosis Bullosa of Siemens (32), Ichthyosis Vulgaris (194), Sjogren-Larsson Syndrome (340), X-Linked Ichthyosis (329).
  4. Clinical Trials ClinicalTrials.gov : at least 39 including 3 Active, 14 Completed, 12 Recruiting
  5. Synonyms: Xeroderma


  

        

                    


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  1. Paller, Amy S   Pediatrics   ClinicalTrials.gov Google Publications
    Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. Top Hospital
    Physician  Highly Cited  Highly Published  Case Reports 
    Disclosed payments in 2021 from 137 biomedical companies, totalling $272,354.36, including $54,865.86 from  Regeneron Pharmaceuticals, Inc.
    Subjects: Th17 Cells; Netherton Syndrome; Tight Junctions; Amidohydrolases; Cholesterol
    Categories: Genetics; Immunology; Administration & Dosage; Pathology; Therapeutic Use; Blood
    An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis. (2017)
    Ichthyosis molecular fingerprinting shows profound T (2019)

  2. Choate, Keith A   Dermatology   ClinicalTrials.gov Google Publications
    Departments of Dermatology, Genetics, and Pathology, Yale University School of Medicine, New Haven, Connecticut, USA. Electronic address: . Top Hospital
    Physician  Highly Cited  Highly Published  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 68/100
    Disclosed payments in 2021 from 71 biomedical companies, totalling $77,572.01, including $42,442.19 from  Janssen Scientific Affairs, LLC
    Subjects: Deafness; Mutation; Keratitis; Photophobia; Receptors, Cell Surface
    Categories: Genetics; Complications; Pathology; Diagnosis; Immunology; Methods
    An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis. (2017)
    Ichthyosis affects mental health in adults and children: A cross-sectional study. (2020)

  3. Lifton, Richard P   Internal Medicine  Google Publications
    Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA. Top Hospital
    Physician  Highly Published 
    Disclosed payments in 2021 from 2 biomedical companies, totalling $25,000, including $25,000 from  Genentech, Inc.
    Subjects: Adaptor Protein Complex 1; Adaptor Protein Complex beta Subunits; Deafness; Frameshift Mutation; Genes, Recessive
    Categories: Genetics
    Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. (2015)
    Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. (2019)

  4. Elias, Peter M   Dermatology   Google Publications
    San Francisco Veterans Affairs Medical Center, Dermatology Service and UC San Francisco Department of Dermatology, San Francisco, California.
    Physician  Highly Cited  Highly Published  Case Reports 
    Subjects: Cholesterol; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Lovastatin
    Categories: Genetics; Administration & Dosage; Drug Therapy; Metabolism; Pathology; Deficiency
    Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. (2015)
    Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders. (2012)

  5. Krueger, James G   Dermatology  Google Publications
    Laboratory for Investigative Dermatology, Rockefeller University, New York, NY.
    Physician  Highly Cited  Highly Published 
    Disclosed payments in 2021 from 58 biomedical companies, totalling $99,612.34, including $11,496.1 from  Novartis Pharmaceuticals Corporation
    Subjects: Th17 Cells; Cytokines; Interleukin-17; Interleukin-23; Lymphocyte Activation
    Categories: Immunology; Blood; Genetics
    An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis. (2017)
    Ichthyosis molecular fingerprinting shows profound T (2019)

  6. Czarnowicki, Tali   Dermatology  Google Publications
    Department of Dermatology and the Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Laboratory for Investigative Dermatology, Rockefeller University, New York, NY. Top Hospital
    Physician  Highly Cited  Highly Published  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 72.4/100
    Subjects: Th17 Cells; Cytokines; Dermatologic Agents; Desmoplakins; Lymphocyte Activation
    Categories: Immunology; Genetics; Therapeutic Use; Blood; Drug Therapy
    Ichthyosis molecular fingerprinting shows profound T (2019)
    The spectrum of manifestations in desmoplakin gene (DSP) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab. (2018)

  7. Milstone, Leonard M   Dermatology   Google Publications
    Department of Dermatology, Yale Medical School, New Haven, CT, USA.
    Physician  Highly Cited  Highly Published  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 68/100
    Subjects: Deafness; Keratitis; Baths; Biomedical Research; Congenital Abnormalities
    Categories: Genetics; Administration & Dosage; Complications; Methods; Physiopathology; Drug Therapy
    Systemic retinoids in the management of ichthyoses and related skin types. (2013)
    Establishing and Validating an Ichthyosis Severity Index. (2017)

  8. Mauro, Theodora M   Dermatology  Google Publications
    San Francisco Veterans Affairs Medical Center, Dermatology Service and UC San Francisco Department of Dermatology, San Francisco, California.
    Physician  Highly Published 
    Subjects: Lipid Metabolism; Arachidonate 12-Lipoxygenase; Calcium; Connexins; Deafness
    Categories: Metabolism; Administration & Dosage; Genetics; Diagnostic Imaging; Drug Therapy
    Systemic retinoids in the management of ichthyoses and related skin types. (2013)
    Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F. (2015)

  9. Hand, Jennifer L   Dermatology  Google Publications
    Departments of Dermatology, Pediatrics and Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Top Hospital
    Physician  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 79.7/100
    Subjects: Infant, Premature, Diseases; Angelman Syndrome; Fatty Acid Transport Proteins; Infant, Premature; Keratitis
    Categories: Genetics; Diagnosis
    Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD. (2020)
    Ichthyosis prematurity syndrome mimics keratitis-ichthyosis-deafness syndrome at birth: Use of electron microscopy and genetic testing. (2016)

  10. Williams, Mary L   Dermatology  Google Publications
    Department of Dermatology, University of California, San Francisco5Department of Pediatrics, University of California, San Francisco. Top Hospital
    Physician  Highly Published  Case Reports 
    Subjects: Cholesterol; Exocytosis; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Keratinocytes; Keratins
    Categories: Genetics; Administration & Dosage; Drug Therapy; Complications; Etiology; Metabolism
    Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders. (2012)
    Cellular basis of secondary infections and impaired desquamation in certain inherited ichthyoses. (2015)

  11. Browning, John C   Pediatric Dermatology  Google Publications
    Department of Dermatology, Baylor College of Medicine, San Antonio, TX, U.S.A. Top Hospital
    Physician 
    Medical school: University of Texas Medical Branch at Galveston (MD, 2001)
    Medicare Accepted
    Disclosed payments in 2021 from 108 biomedical companies, totalling $22,411.53, including $11,543.85 from  Regeneron Healthcare Solutions, Inc.
    Subjects: Ear Diseases; Eye Abnormalities; Eye Diseases; Lipase; Mutation, Missense
    Categories: Etiology; Genetics; Complications; Psychology
    Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. (2017)
    Complications of ichthyosis beyond the skin. (2013)

  12. Theos, Amy J   Dermatology  Google Publications
    Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama. Top Hospital
    Physician 
    Medical school: Louisiana State University School of Medicine In New Orleans (MD, 1996)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 72.3/100
    Disclosed payments in 2021 from 2 biomedical companies, totalling $2,114.8, including $2,000 from  Pierre Fabre Pharmaceuticals, Inc.
    Subjects: Deafness; Keratitis; Alopecia; Congenital Abnormalities; Connexins
    Categories: Genetics; Physiopathology
    More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations. (2019)
    Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. (2013)

  13. Erickson, Taylor R   Dermatology  Google Publications
    Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. Top Hospital
    Physician 
    Disclosed payments in 2021 from 3 biomedical companies, totalling $266.23, including $166.24 from  AbbVie Inc.
    Subjects: Netherton Syndrome; Water Loss, Insensible
    Can a handheld device accurately measure barrier function in ichthyoses? (2020)
    Transepidermal water loss in the orphan forms of ichthyosis. (2020)

  14. Touati, Andrew   Internal Medicine  Google Publications
    Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.
    Physician  Case Reports 
    Disclosed payments in 2021 from 5 biomedical companies, totalling $379.23, including $102.62 from  Janssen Scientific Affairs, LLC
    Subjects: Hypotrichosis; Mutation, Missense; 1-Acylglycerol-3-Phosphate O-Acyltransferase; Keratosis; Lipase
    Categories: Genetics; Diagnosis
    Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects. (2018)
    A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. (2017)

  15. Tran, Gary   Surgery  Google Publications
    Departments of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Ill. Top Hospital
    Physician  Case Reports 
    Subjects: Dermatologic Agents; Desmoplakins; Netherton Syndrome; T-Lymphocytes; Th17 Cells
    Categories: Immunology; Genetics; Therapeutic Use; Drug Therapy
    Ichthyosis molecular fingerprinting shows profound T (2019)
    The spectrum of manifestations in desmoplakin gene (DSP) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab. (2018)

  16. Tyring, Stephen K   Dermatology   Google Publications
    Department of Dermatology, McGovern Medical School at The University of Texas Health Sciences Center at Houston, Houston, TX, USA
    Physician 
    Medical school: University of Texas Medical Branch at Galveston (MD, 1983)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 63/100
    Disclosed payments in 2021 from 252 biomedical companies, totalling $172,222.51, including $39,547.48 from  Ichnos Sciences Inc.
    Subjects: Antigens, Polyomavirus Transforming; Carcinoma, Merkel Cell; Cell Cycle; Dermatologic Agents; Hair Diseases
    Categories: Virology; Pathogenicity; Administration & Dosage; Metabolism; Physiology; Therapy
    Management of Ichthyosis: A Brief Review (2020)
    Emerging differential roles of the pRb tumor suppressor in trichodysplasia spinulosa-associated polyomavirus and Merkel cell polyomavirus pathogeneses. (2016)

  17. Levit, Noah A   Dermatology  Google Publications
    The Medical Scientist Training Program, Stony Brook University, Stony Brook, NY, USA.
    Physician 
    Subjects: Connexins; Deafness; Keratitis; Mutation; Gap Junctions
    Categories: Genetics; Physiology
    The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity. (2013)
    Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome. (2012)

  18. Agim, Nnenna Gebechi   Dermatology  Google Publications
    Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA. Top Hospital
    Physician  Case Reports 
    Subjects: Chondrodysplasia Punctata
    Categories: Diagnosis; Diagnostic Imaging; Genetics; Pathology
    Pattern ichthyosis in a newborn. (2013)
    Ichthyosiform changes in a patient with RAC1 mutation. (2021)

  19. Vivar, Karina L   Pediatric Dermatology  Google Publications
    Department of Dermatology, Northwestern University and Division of Pediatric Dermatology at Ann and Robert H. Lurie Childrens Hospital of Chicago, Chicago, IL, USA. Top Hospital
    Physician 
    Subjects: Deafness; Keratitis; Congenital Abnormalities; Connexins; Failure to Thrive
    Categories: Genetics; Physiopathology
    More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations. (2019)
    Use of telemedicine for ichthyosis: Patient advocacy group as conduit to expert physician advice. (2021)

  20. Rizzo, William B   Internal Medicine   ClinicalTrials.gov Google Publications
    Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska 68198-5456, USA.
    Physician  Highly Published  Case Reports 
    Subjects: Abnormalities, Multiple; Biomedical Research; Ear Diseases; Eye Abnormalities; Eye Diseases
    Categories: Genetics; Etiology; Complications; Diagnosis; Physiopathology; Psychology
    Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. (2011)
    Recognition and diagnosis of neuro-ichthyotic syndromes. (2012)

Note:
  1. These experts have limited publications on this topic in our database, so expertise assessment may not be accurate.
  2. Only the top 20 experts are shown. You may filter your results or use the geolocation tabs. Contact us to purchase the entire list.
These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads or screen scraping) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

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