Find an Ichthyosis Specialist
Clinical centres and research leaders with expertise in rare and complex ichthyosis — worldwide.
How to get a referral in the UK
Ichthyosis is classified as a rare skin disease. You have the right to request referral to a specialist centre. Ask your GP to refer you to one of the centres below, or to the nearest NHS dermatology department. If your local dermatologist is not experienced with your type, request onward referral to a tertiary centre. The GP letter template below may help.
United Kingdom — NHS Specialist Centres
St John's Institute of Dermatology
King's College London / Guy's and St Thomas' NHS Foundation Trust
London, UK
Genetic Skin Disease
Rare Genodermatoses
Adult Dermatology
Research Centre
Led by Prof. John McGrath, Head of St John's Institute of Dermatology and Professor of Molecular Dermatology at King's College London. UK reference centre for genetic skin disorders including lamellar, harlequin, and CHILD syndrome; active programmes in molecular dermatology and gene therapy research.
Referral: Via GP. Ask specifically for the Rare Genodermatoses clinic.
St John's — King's College London
St John's — King's College London
NHS funded. Ask GP for tertiary referral if your local dermatologist is not experienced in your type.
Great Ormond Street Hospital (GOSH)
Great Ormond Street Hospital for Children NHS Trust
London, UK (Paediatric)
Paediatric Dermatology
NICU Collodion Baby
Harlequin Ichthyosis
Netherton
Multidisciplinary
Premier UK paediatric tertiary centre. Multidisciplinary teams for complex paediatric ichthyosis. Manages collodion babies from birth, Harlequin, and severe paediatric disease.
Referral: Via GP or tertiary hospital referral. Paediatric patients (under 18).
GOSH Ichthyosis Service
GOSH Ichthyosis Service
Birmingham Rare Skin Diseases Clinic
University Hospitals Birmingham NHS Foundation Trust
Birmingham, UK
Rare Skin Diseases
Ichthyosis (all types)
Adult Dermatology
Specialist rare skin disease clinic at Queen Elizabeth Hospital. Experienced in adult ichthyosis management across all types.
Referral: Via GP or local dermatologist.
UHB Dermatology
UHB Dermatology
Edinburgh Rare Skin Disease Centre
NHS Lothian / Royal Infirmary of Edinburgh
Edinburgh, Scotland
Genodermatoses
Lamellar Ichthyosis
Scottish patients
Primary referral centre for complex ichthyosis for Scottish patients. Strong genetics input.
Referral: Via Scottish GP. Request referral to genodermatoses service.
NHS Lothian
NHS Lothian
Charles Dent Metabolic Unit
National Hospital for Neurology and Neurosurgery / UCL
London, UK
Refsum Disease
Metabolic Neurology
Phytanic Acid
Plasmapheresis
UK's leading centre for Refsum disease. Expert dietitians and neurologists specialised in phytanic acid storage disorders. Can perform plasmapheresis.
Referral: Via GP or neurologist. Specifically for Refsum disease management.
UCLH Neurology / Metabolic
UCLH Neurology / Metabolic
Essential referral for Refsum disease. NHS funded via specialist commissioning.
Research Group — Newcastle University / NIHR BRC
Prof. Neil Rajan
Newcastle University / NIHR Newcastle Biomedical Research Centre
Newcastle upon Tyne, UK
Dermatogenetics
Genodermatoses
Clinical Trials
Rare Skin Disease
Professor of Dermatogenetics and Honorary Consultant Dermatologist. Leads rare inherited skin disease research at NIHR Newcastle BRC. Over 110 peer-reviewed publications (Lancet Oncology, BJD, Nature). Supervises PhD research on 3D ichthyosis skin models and inflammatory mechanisms.
PhD Researcher — Newcastle NIHR BRC
Amy Louise Robinson
NIHR Newcastle Biomedical Research Centre
Newcastle upon Tyne, UK
3D Skin Models
Ichthyosis Inflammation
Rare Disease
Developing 3D in vitro skin models genetically engineered to replicate ichthyosis, enabling study of inflammatory mechanisms and potential drug testing without patient biopsies. Background in inherited cardiac conditions. Science outreach and Pint of Science presenter. Supervised by Prof. Neil Rajan and Dr. Ralf Kist.
Clinical Academic — Newcastle NHS / University
Dr. Mark Eisner
Newcastle NHS / North East and North Cumbria Deanery
Newcastle upon Tyne, UK
Genodermatoses
Targeted Therapy
Inflammatory Skin
ST4 Clinical Academic Trainee in Dermatology. Researches genodermatoses and ichthyosis with a focus on targeted therapies informed by genetic findings. Winner of European Inflammoncology contest (Naples). Part of Prof. Neil Rajan's Newcastle ichthyosis research team.
Professor of Molecular Dermatology — QMUL
Prof. Edel O'Toole
Queen Mary University of London / Royal London Hospital
London, UK
Molecular Dermatology
Genetic Skin Diseases
ISG Medical Advisory Chair
Centre Lead, Centre for Cell Biology and Cutaneous Research at Blizard Institute. Honorary Consultant Dermatologist at Royal London Hospital. Chairs the Medical Advisory Board of the UK Ichthyosis Support Group. Leading authority on molecular mechanisms of inherited skin diseases.
Consultant Dermatologist Emerita
Prof. Celia Moss OBE
Birmingham Children's Hospital (Honorary)
Birmingham, UK
Clinical Ichthyosis
Paediatric Genodermatoses
ISG Honorary Member
Decades of clinical leadership in UK ichthyosis care. Leading ongoing study on incidence of collodion and harlequin babies in the UK. Honorary member of the Ichthyosis Support Group Medical Advisory Board. Recipient of OBE for services to dermatology.
Ichthyosis Support Group (ISG UK)
Patient Support Organisation
UK-wide
Patient Support
Referral Guidance
Specialist Database
The ISG maintains an up-to-date database of UK dermatologists experienced in ichthyosis. Contact them for the most current specialist list in your region.
Contact: ichthyosis.org.uk | info@ichthyosis.org.uk
Helpline: available on website
Helpline: available on website
United States — Specialist Centres
Northwestern Ichthyosis Center
Northwestern University Feinberg School of Medicine
Chicago, Illinois
Ichthyosis — All Types
Clinical Research
Gene Therapy Trials
Adult & Paediatric
One of the world's foremost ichthyosis research and clinical centres. Runs multiple clinical trials. Patients travel from across the US. Multi-disciplinary team.
Appointments: Northwestern Medicine
Contact via FIRST (Foundation for Ichthyosis & Related Skin Types) for referral guidance
Contact via FIRST (Foundation for Ichthyosis & Related Skin Types) for referral guidance
FIRST — Foundation for Ichthyosis
Patient Advocacy & Specialist Directory
US-wide (HQ: Lansdale, PA)
Specialist Referrals
Patient Support
Research Funding
Clinical Trials
FIRST is the premier US patient organisation. They maintain the most comprehensive US specialist finder and can connect patients to experienced dermatologists nationwide.
Contact: firstskinfoundation.org
Helpline: 1-800-545-3286
Helpline: 1-800-545-3286
Yale Ichthyosis and Rare Skin Disease Center
Yale School of Medicine / Yale Dermatology
New Haven, Connecticut
Lamellar Ichthyosis
CHILD Syndrome
KID Syndrome
Research
Strong research programme in autosomal recessive congenital ichthyosis. Published landmark work on CHILD syndrome treatment.
Professor of Dermatology — Northwestern University
Prof. Amy S. Paller
Northwestern University Feinberg School of Medicine / Lurie Children's Hospital
Chicago, Illinois
Ichthyosis Biomarkers
Immune Biology
Paediatric Genodermatoses
Gene Therapy
Walter J. Hamlin Professor of Dermatology. 750+ publications, h-index 102. 30+ years in ichthyosis research, focusing on biomarkers, pathogenesis-driven therapies, and T-cell dysfunction in ichthyosis. Past President of the International Society of Pediatric Dermatology. FIRST Foundation Medical & Scientific Advisory Board.
Professor of Dermatology, Genetics & Pathology — Yale
Prof. Keith Choate
Yale School of Medicine
New Haven, Connecticut
Molecular Genetics
Ichthyosis with Confetti
VIIS Severity Scale
TMB-001 Trials
Co-developed the VIIS (Visual Index for Ichthyosis Severity) scale, now used globally in clinical trials. Founded the Yale Ichthyosis Registry (2017). Principal investigator for TMB-001 Phase 2/3 trials. FIRST Foundation Medical & Scientific Advisory Board member. Expert in somatic recombination in mosaic ichthyosis disorders.
Associate Professor — Yale Dermatology
Dr. Christopher Bunick
Yale School of Medicine
New Haven, Connecticut
Clinical Trials (TMB-001)
Structural Biology
Congenital Ichthyosis
Principal investigator on clinical trials for congenital ichthyosis including TMB-001 for lamellar and X-linked ichthyosis. Applies structural biology to understand skin protein function. FIRST Foundation Medical & Scientific Advisory Board and Research Grant Committee member.
UCSF Pediatric Dermatology
University of California San Francisco
San Francisco, California
Paediatric Genodermatoses
Harlequin Ichthyosis
Netherton
Leading west coast centre for complex paediatric ichthyosis. Multidisciplinary teams with nursing, nutrition, and physio input.
Australia — Specialist Centres
Murdoch Children's Research Institute (MCRI)
Royal Children's Hospital / MCRI Melbourne
Melbourne, Victoria
Paediatric Dermatology
Genodermatoses
Research
Primary Australian centre for paediatric rare skin disease. Research into genodermatoses including ichthyosis. Accepts paediatric referrals from across Australia.
Genetic Skin Disease (GSD) Group — Sydney
Westmead Hospital / Children's Hospital Westmead
Sydney, New South Wales
Ichthyosis (all forms)
Adult & Paediatric
Genetic Counselling
Specialist rare skin disease service at Westmead. Dermatology and clinical genetics work closely together.
Professor of Dermatology — UNSW / St George Hospital
Prof. Dedee Murrell
University of New South Wales / St. George Hospital
Sydney, New South Wales
Clinical Trials
Blistering & Scaling Disorders
TMB-001 Phase IIb Investigator
Head of Department of Dermatology, St. George Hospital. Inducted into the Dermatology Hall of Fame. Leading investigator in rare skin disease clinical trials in the Asia-Pacific region, including the TMB-001 CONTROL Phase IIb study for X-linked and lamellar ichthyosis. Co-authored 2025 ichthyosis scoring reliability study.
Debra & Rare Skin Disease Australia
Patient Organisation — Specialist Referral Database
Australia-wide
Patient Support
Specialist Referral
Contact for most current list of Australian dermatologists experienced in ichthyosis and rare skin conditions.
France — Research Leaders
France has two nationally-designated reference centres for rare skin diseases (MAGEC) and co-leads the European Reference Network for Rare Skin Diseases (ERN-Skin).
ERN-Skin Co-ordinator — Hôpital Necker, Paris
Prof. Christine Bodemer
Hôpital Necker-Enfants Malades / Université Paris Cité
Paris, France
Paediatric Genodermatoses
ERN-Skin Network Lead
Netherton Syndrome
Ichthyosis
Head of Dermatology at Hôpital Necker, coordinator of MAGEC (French national expert centre for genodermatoses) and co-coordinator of ERN-Skin. 450+ publications. ILDS award 2020, ESPD Master Award 2022. Organised the first World Congress for Rare Skin Diseases (Paris 2022).
Professor of Dermatology — CHU Toulouse
Prof. Juliette Mazereeuw-Hautier
Toulouse University Hospital (CHU Toulouse) / Paul Sabatier University
Toulouse, France
European Guidelines Lead
Biologics in Ichthyosis
Quality of Life Research
ARCI Epidemiology
Coordinator of the Reference Centre for Rare Skin Diseases (southern France). Lead author on ERN-Skin European guidelines of care for ichthyosis (2024 update). Co-authored landmark biologics-in-ichthyosis real-world study (98 patients, BJD 2025). Active clinical trial investigator for LEO Pharma, Lilly, Mayne, Sanofi, and Timber Pharmaceuticals.
Consultant Dermatologist — Institut Imagine, Paris
Dr. Smail Hadj-Rabia
Hôpital Necker-Enfants Malades / Institut Imagine
Paris, France
Netherton Syndrome
KID Syndrome
Rare Inherited Skin Diseases
173 publications, 7,700+ citations. Expert in Netherton syndrome (SPINK5 mutations), KID syndrome, and rare genodermatoses. 2024 Science Translational Medicine paper on Staphylococcus aureus in chronically infected skin in ichthyosis. Leads therapeutic patient education programmes for ichthyosis.
Germany — Research Leaders
Germany's NIRK (national network for ichthyoses and related keratinisation disorders) connects clinical centres across the country. The University Medical Center Freiburg houses the new Centre for Cornification Disorders.
Professor of Human Genetics — Freiburg
Prof. Judith Fischer
University Medical Center Freiburg / Institute of Human Genetics
Freiburg, Germany
Molecular Genetics
Gene Identification
Palmoplantar Keratoderma
NLISD / Mal de Meleda
Full Professor (W3) and Head of the Institute of Human Genetics at Freiburg. Co-directs the new Centre for Cornification Disorders. Specialist in molecular genetics of ichthyoses and rare keratinisation disorders. ERN-Skin reference centre. Co-author of the 2025 gene-based hereditary epidermal differentiation disorder classification framework (BJD, doi:10.1093/bjd/ljaf065).
Consultant Dermatologist — University Hospital Münster
Dr. Vinzenz Oji
University Hospital Münster (UKM) — Genodermatosis Clinic
Münster, Germany
NIRK Network
Bathing Suit Ichthyosis
Netherton / Peeling Skin
Nomenclature Consensus
Leads the genodermatosis clinic within ReCIP (national reference centre for ichthyosis and palmoplantar keratosis) and co-leads NIRK (national network for ichthyoses). Key contributor to the first ichthyosis consensus nomenclature (Sorèze 2009) and 2025 updated classification. Expert in inflammatory ichthyoses and bathing suit ichthyosis.
Group Leader — University of Freiburg
Prof. Dimitra Kiritsi
Medical Center – University of Freiburg / Dermatology
Freiburg, Germany
Gene Therapy
Revertant Mosaicism
IgE / Allergy in Ichthyosis
Skin Fragility
179 publications, 3,315 citations. Research focuses on revertant mosaicism as natural gene therapy, cell/gene therapy for ichthyosis and EB, and whole-exome sequencing studies linking ichthyosis to IgE elevation. 2024 paper on gene/cell therapy approaches for ichthyosis.
Israel — Research Leaders
Chair of Dermatology — Tel Aviv Sourasky Medical Center
Prof. Eli Sprecher
Tel Aviv Sourasky Medical Center (Ichilov) / Tel Aviv University
Tel Aviv, Israel
Syndromic Ichthyoses
Molecular Genetics
CEDNIK Syndrome
Epidermolytic Ichthyosis
Deputy Director for Research and Development, Tel Aviv Sourasky. Over 600 publications. Characterised CEDNIK syndrome (SNAP29 mutations + ichthyosis), ANE syndrome, and key ARCI genetics. Senior editor of British Journal of Dermatology, Journal of Investigative Dermatology, and American Journal of Human Genetics. Co-author on the 2025 epidermal differentiation disorder (EDD) classification (BJD, doi:10.1093/bjd/ljaf065).
Japan — Research Leaders
Professor of Dermatology — Nagoya University
Prof. Masashi Akiyama
Nagoya University Graduate School of Medicine
Nagoya, Japan
Harlequin Ichthyosis
ABCA12 / ARCI
Autograft Therapy
Gene Diagnosis
Identified the ABCA12 pathological mechanism in harlequin ichthyosis (2005) — a landmark discovery. Leads Japan's Ministry of Health, Labour and Welfare Harlequin Ichthyosis Research Team since 2009. Receives international requests for genetic diagnosis of rare dyskeratoses. Pioneering work on cultured epidermal autografts using somatic recombination as a therapeutic strategy.
Spain — Research Leaders
Head of Paediatric Dermatology — Hospital Niño Jesús, Madrid
Dr. Ángela Hernández-Martín
Hospital Infantil Universitario Niño Jesús
Madrid, Spain
Paediatric Ichthyosis
ERN-Skin
ESPD & SPED Leadership
Classification Research
Secretary of the European Society of Paediatric Dermatology; President of the Spanish Society of Paediatric Dermatology. Organised the first Symposium of Ichthyosis Experts in Spain (2012). Co-author on the 2025 gene-based EDD classification (BJD, doi:10.1093/bjd/ljaf065). Active ERN-Skin contributor for rare paediatric skin disease.
GP Referral Letter Template
Print and bring to your GP appointment, or email it ahead. Replace highlighted sections with your details.
Dear Dr [GP surname],
I am writing to request an urgent/routine referral to a specialist dermatologist with expertise in [your ichthyosis type] ichthyosis.
I have had this condition since [birth / childhood / specify]. My current symptoms include [scaling, itch, fissuring, overheating — describe your main issues].
I would specifically request referral to [name of centre from list above, or "the nearest tertiary centre experienced in rare ichthyosis"].
This is a genetic condition affecting skin barrier function. Current NHS guidelines support referral to specialist centres for complex or rare forms of ichthyosis. The Ichthyosis Support Group (ISG UK — ichthyosis.org.uk) provides additional guidance for referrers.
Thank you for your assistance.
Yours sincerely,
[Your name and date of birth]