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Disease Profile

X-linked ichthyosis

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.

1-5 / 10 000

US Estimated

Europe Estimated

Age of onset

Neonatal

ICD-10

Q80.1

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)

Steroid sulfatase deficiency; SSD; SSDD;

Categories

Congenital and Genetic Diseases; Eye diseases; Skin Diseases

Summary

X-linked ichthyosis is a disorder in which the skin cells are produced at a normal rate but they do not separate properly at the surface of the stratum corneum (the outermost layer of the skin). This slows the rate of shedding of the skin cells, resulting in a build-up of scales. The scales of X-linked ichthyosis are often dark and usually cover only a portion of the body. Typically, the trunk and back of the neck are more likely to be affected. Scales are usually not found on the face, scalp, palms of the hands, and soles of the feet. [1][2] X-linked ichthyosis mostly affects males. It is usually caused by a mutation or deletion in the STS gene and is inherited in an X-linked recessive manner. In rare cases, the ichthyosis can be part of a genetic syndrome in which other parts of the body are affected.[2][3] Topical treatment may consist of alpha-hydroxy acids, lubricating bath oils, and emollients.[1][2] For adult patients, systemic retinoids may be an option, especially during winter when the ichthyosis is often more severe. The ichthyosis is life-long, but the scaling may improve with age.[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
Dry skin
0000958
Hyperkeratosis
0000962
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased

[ more ]

0000966
Ichthyosis
0008064
30%-79% of people have these symptoms
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder

[ more ]

0007018
Opacification of the corneal stroma
0007759
5%-29% of people have these symptoms
Autism
0000717
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment

[ more ]

0002167
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality

[ more ]

0001939
Congenital ichthyosiform erythroderma
0007431
Neoplasm
0002664
X-linked recessive inheritance
0001419

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.

    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.
      • 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 X-linked ichthyosis. Click on the link to view a sample search on this topic.

          References

          1. X-Linked Ichthyosis Fact Sheet. Foundation for Ichthyois & Related Skin Types. https://www.firstskinfoundation.org/content.cfm/Ichthyosis/X-Linked-Ichthyosis-Fact-Sheet/page_id/891?gclid=CNOH24vtwssCFcG6Gwodhy4NOw. Accessed 3/15/2016.
          2. Oji, Vinzenz. Recessive X-linked ichthyosis. Orphanet. March, 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461. Accessed 3/15/2016.
          3. Janniger, Camila. X-Linked Ichthyosis. Medscape Reference. October 29, 2015; https://emedicine.medscape.com/article/1111398-overview. Accessed 3/15/2016.