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Disease Profile

Kyrle disease

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.

Unknown

Age of onset

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ICD-10

#N/A

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)

Kyrle's disease; Hyperkeratosis follicularis et parafollicularis in cutem penetrans

Categories

Skin Diseases

Summary

Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop.[1][2][3]

Symptoms

Kyrle disease is primarily characterized by large skin papules with central keratin (a protein found in the skin, hair and nails) plugs. These lesions are most commonly found on the legs, but may also develop on the arms or head and neck region. They can remain as distinct papules or join together into larger plaques. Although some people report no symptoms associated with the skin lesions, many experience tenderness and/or severe itching.[1][2]

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
Percent of people who have these symptoms is not available through HPO
Abnormality of the skin
0000951
Autosomal dominant inheritance
0000006
Posterior subcapsular cataract
0007787

Cause

The cause of Kyrle disease is currently unknown. However, it appears to occur more frequently in patients with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure.[1][2]

In some families, the condition appears to be inherited but an underlying genetic cause has not been identified.[1][2]

Diagnosis

A diagnosis of Kyrle disease is often suspected based on the presence of characteristic signs and symptoms on physical examination. The deep penetration of the keratin plugs, the size and irregularity of the papules, the age of onset and the location of the skin lesions can help differentiate Kyrle disease from other conditions that are associated with similar skin findings. A workup for Kyrle disease should also include an evaluation for any underlying diseases that can be associated with the condition.[1][2]

Treatment

Kyrle disease is most often associated with conditions such as diabetes mellitus, kidney disease, liver abnormalities and congestive heart failure. Therefore, treatment is typically directed toward the underlying condition when appropriate. Rapid improvement and resolution of the lesions is often seen once the associated condition is treated.[1][2]

Other treatment options specifically target the signs and symptoms associated with Kyrle disease. For example, medicated lotions, sedating antihistamines, and topical corticosteroids may be prescribed in people with severe itching. UV light therapy is reportedly particularly helpful for people with widespread lesions or severe itching from renal or hepatic disease. Carbon dioxide laser or cryosurgery may be helpful for some people with a few lesions.[2]

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 Providing General Support

    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.

      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. 
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Kyrle disease. Click on the link to view a sample search on this topic.

        Resources for Kids

          References

          1. Kyrle disease. DermNet NZ. June 15, 2009; https://dermnetnz.org/scaly/kyrle.html.
          2. Daniel J Hogan, MD. Kyrle Disease. Medscape Reference. October 2016; https://emedicine.medscape.com/article/1074469-overview.
          3. Mary Maiberger, MD, Julia R Nunley, MD. Perforating dermatoses. UpToDate. September 2016; Accessed 11/4/2016.

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