National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Lamellar ichthyosis

Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly. Other signs and symptoms of the condition may include ectropion, lips that turn outwards, hair loss, palmoplantar hyperkeratosis (thick skin on the palms of the hands and/or soles of the feet), nail abnormalities, dehydration and respiratory problems. Although the condition may be caused by changes (mutations) in one of several different genes, approximately 90% of cases are caused by mutations in the TGM1 gene. Lamellar ichthyosis is generally inherited in an autosomal recessive manner.[1][2] Treatment is based on the signs and symptoms present in each person.[2][3]
Last updated: 2/2/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the nail 0001597
Aplasia/Hypoplasia of the eyebrow
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ] 		0100840
Dry skin 0000958
Ectropion
Eyelid turned out
0000656
Erythroderma 0001019
Hyperkeratosis 0000962
Ichthyosis 0008064
Lack of skin elasticity 0100679
Pruritus
Itching
Itchy skin
Skin itching
[ more ] 		0000989
Sparse hair 0008070
30%-79% of people have these symptoms
Abnormality of the helix 0011039
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip
[ more ] 		0000232
5%-29% of people have these symptoms
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] 		0000164
Chronic otitis media
Chronic infections of the middle ear
0000389
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
Dehydration 0001944
Gangrene
Death of body tissue due to lack of blood flow or infection
0100758
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Sepsis
Infection in blood stream
0100806
Short stature
Decreased body height
Small stature
[ more ] 		0004322
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Unfortunately, there is currently no cure for lamellar ichthyosis. Management is generally supportive and based on the signs and symptoms present in each person. For infants, providing a moist environment in an isolette (incubator) and preventing infection are most important. Petrolatum-based creams and ointments are used to keep the skin soft, supple, and hydrated. As affected children become older, treatments to promote peeling and thinning of the stratum corneum (the outermost layer of skin cells) are often recommended. This may include humidification with long baths, lubrication, and keratolytic agents such as alpha-hydroxy acid or urea preparations.[1]

For people with ectropion (turning out of the eyelid), lubrication of the cornea with artificial tears or prescription ointments is helpful to prevent the cornea from drying out. Topical or oral retinoid therapy may be recommended for those with severe skin involvement; however, these medications can be associated with undesired side effects and are, therefore, generally prescribed with caution.[1]
Last updated: 2/3/2016

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include syndromic forms of ichthyosis, recessive X-linked ichthyosis and autosomal dominant ichthyosis vulgaris in mild forms, and CIE in case of erythroderma (see these terms). The disease is transmitted as an autosomal recessive trait.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Lamellar ichthyosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Lamellar ichthyosis. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Lamellar ichthyosis:
    The National Registry for Ichthyosis & Related Skin Disorders
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Lamellar ichthyosis. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • A Positive Exposure program called FRAME has an educational film about ichthyosis that was created to change how medical information is presented to healthcare professionals. FRAME stands for Faces Redefining the Art of Medical Education. Positive Exposure is an organization that uses photography, film, and narrative to transform public perceptions of people living with genetic, physical, intellectual, and behavioral differences.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Lamellar ichthyosis. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have a daughter with this skin condition. I would like to know if there is a cure for it yet, and what sort of treatments are best. I heard about the Garra rufa "skin eating fish" being used in some places to treat certain skin disorders; will using this fish work for this type of skin disorder? See answer


  1. Gabriele Richard, MD, FACMG and Sherri J Bale, PhD, FACMG. Autosomal Recessive Congenital Ichthyosis. GeneReviews. August 2014; http://www.ncbi.nlm.nih.gov/books/NBK1420/.
  2. Lamellar ichthyosis. Genetics Home Reference. March 2015; http://ghr.nlm.nih.gov/condition/lamellar-ichthyosis.
  3. Heather Kiraly Orkwis. Lamellar Ichthyosis. Medscape Reference. September 2014; http://emedicine.medscape.com/article/1111300-overview.