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Disease Profile
Nonbullous congenital ichthyosiform erythroderma
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
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Ichthyosiform erythroderma, congenital, nonbullous, 1; NCIE; Ichthyosiform erythroderma, Brocq congenital, nonbullous form;
Categories
Congenital and Genetic Diseases; Skin Diseases
Summary
Nonbullous
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 |
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 |
0000007 | ||
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 | |
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
ClinicalTrials.gov provides access to information on
Related diseases
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
|
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At birth, differential diagnoses include other causes of neonatal erythroderma (e.g. congenital immunodeficiencies). Later in life, differential diagnosis includes syndromic forms of icthyosis, harlequin ichthyosis, lamellar ichthyosis, congenital reticular ichthyosiform erythroderma, and peeling skin syndrome (see these terms).
Visit the Orphanet disease page for more information.
|
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
-
Foundation for Ichthyosis and Related Skin Types (FIRST)
2616 North Broad Street
Colmar, PA 18915
Toll-free: 1-800-545-3286
Telephone: +1-215-997-9400
E-mail: [email protected]
Website: https://www.firstskinfoundation.org/
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
- Nonbullous congenital ichthyosiform erythroderma. Genetics Home Reference. August 2010; https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma. Accessed 10/7/2011.
- 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.
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