Disease Profile

Nonbullous congenital ichthyosiform erythroderma

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of Onset

Infancy

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ICD-10

Q80.2

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Ichthyosiform erythroderma, congenital, nonbullous, 1; NCIE; Ichthyosiform erythroderma, Brocq congenital, nonbullous form;

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). Some people with NBCIE also have outward turning eyelids (ectropion); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). NBCIE may be caused by mutations in any one of at least three genes: ALOX12BALOXE3 or NIPAL4. In some people with NBCIE, the cause of the disorder is unknown.[1][2]

Symptoms

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Ectropion
Eyelid turned out
0000656
Erythroderma
0001019
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased

[ more ]

0000966
Ichthyosis
0008064
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989
30%-79% of people have these symptoms
Abnormality of the nail
0001597
Alopecia
Hair loss
0001596
Corneal erosion
Damage to outer layer of the cornea of the eye
0200020
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Keratitis
Corneal inflammation
0000491
Palmoplantar keratoderma
Thickening of palms and soles
0000982
5%-29% of people have these symptoms
Erythema
0010783
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip

[ more ]

0000232
Short finger
Stubby finger
0009381
Short stature
Decreased body height
Small stature

[ more ]

0004322
Short toe
Short toes
Stubby toes

[ more ]

0001831
Small nail
Small nails
0001792
Thin nail
Thin nails
0001816
Percent of people who have these symptoms is not available through HPO
Abnormal hair morphology
Abnormality of the hair
Hair abnormality

[ more ]

0001595
Autosomal recessive inheritance
0000007
Congenital ichthyosiform erythroderma
0007431
Congenital nonbullous ichthyosiform erythroderma
0007479
Epidermal acanthosis
Thickening of upper layer of skin
0025092
External genital hypoplasia
Underdevelopment of external reproductive organs
0003241
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
Hypergranulosis
0025114
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Paralysis
Inability to move
0003470

Diagnosis

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.

    Treatment

    There is currently no cure for nonbullous congenital ichthyosiform erythroderma (NBCIE). Treatment generally focuses on managing the specific signs and symptoms each individual has. For newborns, the most important goals are to provide a moist environment in an isolette, and to prevent and treat infections. Petrolatum-based creams and ointments are typically used to keep the skin soft and hydrated. As children age, keratolytic agents (agents that help the skin loosen and shed) such as alpha-hydroxy acid or urea preparations can be used to promote the peeling and thinning of the outer layer of the skin. For individuals with severe skin involvement, oral retinoid therapy may be recommended. However, because this is known to cause abnormalities in a developing fetus, it should be used with caution in women of child-bearing age. In general, any agents that irritate the skin should be avoided. Ectropion (turning out of the eyelid) can cause dryness of the cornea (especially at night), so artificial tears or prescription ointments may be used to keep the cornea moist.[2]

    ClinicalTrials.gov provides access to information on clinical studies (including therapies) for different types of ichthyosis. To view a list of the studies currently listed, click here.

    Organizations

    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

      Learn More

      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

      • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
      • Genetics Home Reference (GHR) contains information on Nonbullous congenital ichthyosiform erythroderma. This website is maintained by the National Library of Medicine.

        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.
        • 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.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • 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 Nonbullous congenital ichthyosiform erythroderma. Click on the link to view a sample search on this topic.

          References

          1. Nonbullous congenital ichthyosiform erythroderma. Genetics Home Reference. August 2010; https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma. Accessed 10/7/2011.
          2. Sherri J Bale, Gabriele Richard. Autosomal Recessive Congenital Ichthyosis. GeneReviews. November 19, 2009; https://www.ncbi.nlm.nih.gov/books/NBK1420/. Accessed 10/7/2011.