Kyrle disease

Title

Other Names:

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

Categories:

Skin Diseases

Summary 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]

Last updated: 11/4/2016

Symptoms 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]

Last updated: 11/7/2016

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of the skin	-
Autosomal dominant inheritance	-
Posterior subcapsular cataract	-

Last updated: 9/1/2017

Cause 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]

Last updated: 11/7/2016

Inheritance Inheritance

Many cases of Kyrle disease occur sporadically in people with no family history of the condition. In these affected people, the condition may be idiopathic (of unknown cause) or associated with a condition such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure.^[1]^[2]

In some families, Kyrle disease does appear to be inherited. Although the underlying genetic cause has not been identified, some studies suggest that the condition may follow an autosomal recessive pattern in these families.^[1]^[2]

Last updated: 11/7/2016

Diagnosis 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]

Last updated: 11/7/2016

Treatment 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]

Last updated: 11/7/2016

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Organizations 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

American Academy of Dermatology
930 E. Woodfield Road
Schaumburg, IL 60173
Telephone: 847-330-0230
Fax: 847-330-0050
Website: http://www.aad.org/
American Association of Kidney Patients
3505 E. Frontage Rd., Suite 315
Tampa, FL 33607-1796
Toll-free: 800-749-2257
Telephone: 813-636-8100
Fax: 813-636-8122
E-mail: info@aakp.org
Website: http://www.aakp.org

Organizations Providing General Support

American Skin Association, Inc.
346 Park Avenue South, 4th floor
New York, NY 10010
Toll-free: 800-499-SKIN
Telephone: 212-889-4858
Fax: 212-889-4959
E-mail: info@skinassn.org
Website: http://www.americanskin.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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

The American Academy of Dermatology provides kids, teens, and parents with information on skin conditions.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I have Kyrle disease and have bumps all over my arms and legs. They are extremely painful and unsightly. What is the direct treatment for this condition? Is there treatment for the pain? What causes the lesions? See answer

Have a question? Contact a GARD Information Specialist.

References References

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

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