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Disease Profile

Monilethrix

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

US Estimated

Europe Estimated

Age of onset

Infancy

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ICD-10

Q84.1

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.

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)

Nodose hair

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

Monilethrix is a rare condition caused by a defect in the hair shaft resulting in hair which appears dry, dull, and brittle, and which breaks spontaneously or with mild trauma. The age of onset, severity, and course may vary from person to person.[1]

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
Abnormal eyebrow morphology
Abnormality of the eyebrow
0000534
Abnormal eyelash morphology
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality

[ more ]

 0000499
Abnormality of the nail
0001597
Brittle hair
0002299
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture

[ more ]

 0002213
Follicular hyperkeratosis
0007502
Patchy alopecia
Patchy baldness
0002232
Slow-growing hair
Slow growing hair
Slow rate of hair growth
Slow speed of hair growth

[ more ]

 0002217
Sparse hair
0008070
5%-29% of people have these symptoms
Abnormal oral mucosa morphology
Abnormality of lining of mouth
0011830
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

 0000164
Abnormality of the respiratory system
0002086
Asymmetry of iris pigmentation
0200064
Blepharitis
Inflammation of eyelids
0000498
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

 0000518
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

 0100543
Glaucoma
0000501
Hyphema
0011886
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

 0001249
Iritis
Inflammation of iris
0001101
Multiple cafe-au-lait spots
0007565
Myeloproliferative disorder
0005547
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

 0000520
Schizophrenia
0100753
Uveitis
0000554
Visual loss
Loss of vision
Vision loss

[ more ]

 0000572
Percent of people who have these symptoms is not available through HPO
Alopecia
Hair loss
0001596
Autosomal dominant inheritance
0000006
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

 0003593
Keratosis pilaris
Chicken skin
0032152
Nail dysplasia
Atypical nail growth
0002164
Nail dystrophy
Poor nail formation
0008404
Perifollicular hyperkeratosis
0007468
Variable expressivity
0003828

Monilethrix occurs mainly on the scalp, predominantly on the occiput and nape and occasionally on other scalp areas. Scalp involvement can be widespread or localized. Occasionally, the eyelashes, eyebrows, pubic, axillary, and limb hair are involved.[2]

Monilethrix is characterized by a beaded appearance of the hair due to periodic thinning of the shaft. This condition results in hair fragility and patchy dystrophic alopecia (hair loss). The term monilethrix is derived from the Latin word monile, which means necklace, and the Greek word thrix, which means hair. This term describes the resemblance of the hair to a string of beads or a necklace.[2]
Do you have updated information on this disease? We want to hear from you.

Cause

The cause of monilethrix remains unclear. To date, whether monilethrix is a disorder of the function or structure of the hair has not been determined. Some genetic studies suggest that monilethrix is likely caused by a mutation (change in a gene) in keratin (a type of protein found in the hair).[2] At least four genes have been found to cause this condition. Autosomal dominant monilethrix is caused by mutations in the hair cortex keratin genes KRT81, KRT83, or KRT86. The autosomal recessive form of monilethrix results from mutations in the desmoglein 4 (DSG4) gene.[2][3][4]

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

    Unfortunately, the is no cure for monilethrix. Some patients have reported spontaneous improvement, particularly during puberty and pregnancy, but the condition rarely disappears completely.[1][2]

    While there is no recognized definitive treatment for monilethrix, oral acitretin and topical 2% minoxidil have shown good clinical and cosmetic results with continued use.[2][5][6] The systemic administration of vitamins, retinoids, griseofulvin, oral contraceptives, steroids, radiation therapy, external desquamative ointments, and steroid preparations have not show impressive results.[2]

    Avoiding trauma is perhaps the most effective method of managing monilethrix. This is because from birth, the hair of individuals with monilethrix tends to have an increased susceptibility to weathering and cosmetic damage (e.g., sunlight exposure, dyeing, bleaching, perming, curling). This susceptibility to damage can prevent hair from growing to its maximum length.[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 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

      • Genetics Home Reference (GHR) contains information on Monilethrix. 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. 
          Online Mendelian Inheritance in Man (OMIM)
          The Online Mendelian Inheritance in Man (OMIM)
        • 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 Monilethrix. Click on the link to view a sample search on this topic.

          References

          1. Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Chapter 661 Disorders of Hair. Kliegman: Nelson Textbook of Pediatrics, 18th ed. Philadelphia, PA: Saunders, An Imprint of Elsevier; 2007;
          2. Schwartz RA, Alexiewicx-Slowinska M. Monilethrix. Medscape Reference. September 8, 2015; https://emedicine.medscape.com/article/1118500-overview#. Accessed 10/5/2015.
          3. Monilethrix. Online Mendelian Inheritance in Man (OMIM). July 2, 2014; https://omim.org/entry/158000. Accessed 10/5/2015.
          4. Farooq M, Ito M, Naito M, Shimomura Y. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. Br J Dermatol. 2011 Aug; 165(2):425-31. https://www.ncbi.nlm.nih.gov/pubmed/21495994. Accessed 10/5/2015.
          5. Karincaoglu Y, Coskun BK, Seyhan ME, Bayram N. Monilethrix: improvement with acitretin. Am J Clin Dermatol. 2005; https://www.ncbi.nlm.nih.gov/pubmed?term=16343029. Accessed 1/31/2012.
          6. Rossi A, Iorio A, Scali E, Fortuna MC, Mari E, Palese E, Greco P, Carlesimo M. Monilethrix treated with minoxidil. Int J Immunopathol Pharmacol. 2011; https://www.ncbi.nlm.nih.gov/pubmed?term=21496408. Accessed 1/31/2012.

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