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Disease Profile

Trichotillomania

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

#N/A

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)

Hair-pulling syndrome

Categories

Behavioral and mental disorders

Summary

Trichotillomania is a disorder characterized by an overwhelming urge to repeatedly pull out one's own hair, resulting in hair loss (alopecia).[1][2]  It is classified under the obsessive-compulsive and related disorders category. Trichotillomania results in highly variable patterns of hair loss. The scalp is the most common area of hair pulling, followed by the eyebrows, eyelashes, pubic and perirectal areas, axillae, limbs, torso, and face. The resulting alopecia can range from thin unnoticeable areas of hair loss to total baldness. Some people chew or swallow the hair they pull out (trichophagy), which can result in gastrointestinal problems or develop a trichobezoar (hairball in the intestines or stomach).[1][2][3] In many cases, people with this disorder feel extreme tension when they feel an impulse, followed by relief, gratification or pleasure afterwards. The disorder may be mild and manageable, or severe and debilitating.[3] The cause is unknown, though both environmental and genetic causes have been suspected.[1] Treatment may involve cognitive behavior therapy, such as habit reversal training (learning to substitute the hair-pulling behavior) and/or drug therapy, but these are not always effective.[1][3]

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
Percent of people who have these symptoms is not available through HPO
Alopecia
Hair loss
0001596
Autosomal dominant inheritance
0000006
Hair-pulling
0012167
Multifactorial inheritance
0001426
Obsessive-compulsive behavior
Obsessive compulsive behavior
0000722

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

    Behavioral treatment seems to be the most powerful treatment for trichotillomania. Parental involvement is important and should include enough support so that affected children grow well intellectually, physically, and socially. Shaving or clipping hair close to the scalp may be helpful to stop the behavior.[4]

    Professional cognitive behavior therapy (CBT) is recommended if initial approaches are unsuccessful. CBT typically involves self monitoring (keeping records of the behavior); habit-reversal training; and stimulus control (organizing the environment). CBT is typically effective in highly motivated and compliant patients. The success of therapy may depend on firm understanding of the illness and the cooperation of the family members to help the affected individual comply with treatment. Several courses of CBT may be needed.[4]

    No medication has been approved for the treatment of trichotillomania, and medications used have not been consistently effective. Selective serotonin reuptake inhibitors have been utilized but responses to treatment have not been consistent. Fortunately, several recent studies regarding drug therapy for trichotillomania show promise. While drug therapy alone is currently generally not effective, combination therapy and other treatments may be helpful.[4]

    More detailed information about current treatment options for trichotillomania is available on Medscape Reference's Web site and can be viewed by clicking here. You may need to register on the Web site, but registration is free.

    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

      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

        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • 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. 
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Trichotillomania. Click on the link to view a sample search on this topic.

            References

            1. Elston DM. Trichotillomania. Medscape Reference. February 9, 2016; https://emedicine.medscape.com/article/1071854-overview#a5.
            2. What is Trichotillomania. The TLC Foundation for Body-Focused Repetitive Behaviors. https://www.bfrb.org/learn-about-bfrbs/trichotillomania.
            3. Trichotillomania (hair-pulling disorder). Mayo Clinic. November, 2016; https://www.mayoclinic.org/diseases-conditions/trichotillomania/home/ovc-20268509.
            4. Carly A Elston. Trichotillomania. Medscape Reference. August 26, 2011; https://emedicine.medscape.com/article/1071854-overview. Accessed 11/30/2012.

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