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Disease Profile
Netherton syndrome
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
Q80.8
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)
NETH; Netherton disease
Categories
Congenital and Genetic Diseases; Eye diseases; Immune System Diseases;
Summary
Netherton disease is a rare disorder affecting the skin, hair and
Symptoms
Signs and symptoms include:[1][2]
- Excessively dry scaly skin (ichthyosis)
- Darkened and thickened skin (
acanthosis nigricans ) - Red skin and fine scales on the skin (congenital nonbullous ichthyosiform erythroderma)
- Brittle hair with an abnormal hair shaft (bamboo hair)
- Predisposition to develop allergic reactions (atopic diathesis)
- Eczema
- Asthma
- Trouble absorbing nutrients from food (malabsorption)
The symptoms of Netherton syndrome are present at birth. Because the skin is abnormal, infants are at risk for dehydration and infections, both of which may be life-threatening. Growth and weight gain may be slow and individuals with this condition are often shorter than average. Over time, the skin symptoms often improve. Many individuals have periodic outbreaks of red, circular rashes. Some individuals with Netherton syndrome have developmental and intellectual delays. In addition, individuals with this condition have an increased
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 | ||
Acanthosis nigricans |
Darkened and thickened skin
|
0000956 |
Asthma | 0002099 | |
0007479 | ||
Eczema | 0000964 | |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] |
0002213 |
Increased circulating IgE level | 0003212 | |
Irregular hyperpigmentation | 0007400 | |
Malabsorption |
Intestinal malabsorption
|
0002024 |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] |
0002209 |
Trichorrhexis nodosa | 0009886 | |
Urticaria |
Hives
|
0001025 |
30%-79% of people have these symptoms | ||
Decreased circulating |
0004313 | |
Emphysema | 0002097 | |
Global |
0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
0001250 | ||
5%-29% of people have these symptoms | ||
Aminoaciduria |
High urine amino acid levels
Increased levels of animo acids in urine
[ more ] |
0003355 |
Dehydration | 0001944 | |
Dry skin | 0000958 | |
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ] |
0000086 |
Erythroderma | 0001019 | |
Hydronephrosis | 0000126 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Skin rash | 0000988 | |
Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ] |
0000653 |
1%-4% of people have these symptoms | ||
Intestinal atresia | 0011100 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the musculature |
Muscular abnormality
|
0003011 |
Allergic rhinitis |
Hay fever
Hayfever
[ more ] |
0003193 |
Angioedema | 0100665 | |
0000007 | ||
Brittle hair | 0002299 | |
Brittle scalp hair | 0004779 | |
Decreased circulating IgG level | 0004315 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Food allergy | 0500093 | |
Hypereosinophilia | 0032061 | |
Hypernatremic dehydration | 0004906 | |
Parakeratosis | 0001036 | |
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] |
0002719 |
Villous atrophy | 0011473 |
Cause
Diagnosis
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.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
Specialists involved in the care of someone with Netherton
Dermatologist Immunologist Allergist Medical geneticist
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
|
---|
Differential diagnoses include other infantile erythrodermas, particularly nonbullous congenital ichthyosiform erythroderma (see this term) and erythrodermic psoriasis. Atopic dermatitis, lamellar ichthyosis (see this term), primary immunodeficiency syndromes, seborrheic dermatitis, and acrodermatitis enteropathica (see this term) should also be excluded.
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: info@firstskinfoundation.org
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
- 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 Netherton syndrome. This website is maintained by the National Library of Medicine.
- 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.
In-Depth Information
- 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.
- 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 Netherton syndrome. Click on the link to view a sample search on this topic.
References
- Sarri CA, Roussaki-Schulze A, Vasilopoulos Y, Zafiriou E, Patsatsi A, et al. Netherton Syndrome: A Genotype-Phenotype Review. Mol Diagn Therap. Apr, 2017; 21(2):137-152. www.ncbi.nlm.nih.gov/pubmed/27905021.
- Saleem HMK, Shahid MF, Shahbaz A, Schail A, Sachmechi I.. Netherton syndrome: A case report and review of the literature. Cureus. Jul 30, 2018; 10(7):e3070. www.ncbi.nlm.nih.gov/pubmed/30280066.
- Leclerc-Mercier S, Bodemer C, Furio L. Skin biopsy in Netherton syndrome: a histological review of a large series and new findings. Am J Dermatopathol. 2016; 38(20:83-91. www.ncbi.nlm.nih.gov/pubmed/26825155.
- Roda A, Mendonca-Sanches M, Travassos AR, Soares-de-Almeida L, Metze D. Infliximab therapy for Netherton syndrome: A case report. JAAD Case Rep. Nov 6, 2017; 3(6):550-552. www.ncbi.nlm.nih.gov/pubmed/29159247.
- Milestone LM, Miller K, Haberman M, Dickens J.. Incidence of moderate to severe ichthyosis in the United States.. Arch Dermatol. Sept 2012; 148(9):1080-1. www.ncbi.nlm.nih.gov/pubmed/22986871.
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