Rare Pulmonology News

Disease Profile

Leukonychia totalis

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

Neonatal

ICD-10

Q84.4

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)

Hereditary white nails; Porcelain nails; Nail disorder, nonsyndromic congenital, 3;

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

Leukonychia totalis is a nail condition characterized by complete whitening of the entire nail plate.[1] It is usually inherited in an autosomal dominant manner. Less commonly, it may be inherited in an autosomal recessive manner, or acquired (not inherited) during a person's lifetime.[2] The inherited forms can be caused by mutations in the PLCD1 gene and generally involve the entire plate of all 20 nails.[3][1] In some cases, leukonychia totalis has been associated with various other abnormalities or syndromes. Treatment may focus on the underlying cause when it is associated with another condition.[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 fingernail morphology
Abnormal fingernails
Abnormality of the fingernails

[ more ]

0001231
Abnormal toenail morphology
Abnormality of the toenail
Abnormality of the toenails

[ more ]

0008388
Adenoma sebaceum
0009720
Nephrolithiasis
Kidney stones
0000787
30%-79% of people have these symptoms
Abnormal eyelash morphology
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality

[ more ]

0000499
Blepharitis
Inflammation of eyelids
0000498
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity

[ more ]

0000613
5%-29% of people have these symptoms
Type II diabetes mellitus
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes

[ more ]

0005978
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Concave nail
Spoon-shaped nails
0001598
Leukonychia
White discoloration of nails
0001820

Cause

Leukonychia totalis (also called total leukonychia) is thought to be due to abnormal keratinization (conversion into keratin) of the nail plate.[4] Keratin is a protein that is a major component of the epidermis (outer layer of skin), hair, nails, and horny tissues.

The condition is usually inherited, following either an autosomal dominant or autosomal recessive inheritance pattern.[2] These inherited forms can be caused by mutations in the PLCD1 gene.[3]

In some cases, leukonychia occurs in association with other underlying abnormalities or syndromes. Conditions that have been reported include palmoplantar keratoderma; certain types of cysts; severe keratosis pilarispili torti; hypotrichosis (lack of hair growth); onychorrhexis (brittle nails); koilonychia (spoon-shaped nails); Bart-Pumphrey syndrome; and Buschkell-Gorlin syndrome, when it occurs with sebaceous cysts and kidney stones.[5][4][2] It has also reportedly been associated with typhoid feverleprosy, cirrhosis, nail biting, trichinosis, and cytotoxic drugs (drugs that are toxic to cells).[2] In a few cases, the cause of leukonychia is unknown (idiopathic).

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

There is no universally successful treatment for the whitening of the nails in people with leukonychia totalis.[3] However, if the condition is known to have an underlying cause, treating that cause (when possible) may improve the condition.

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.

In-Depth Information

  • 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 Leukonychia totalis. Click on the link to view a sample search on this topic.

References

  1. Howard SR, Siegfried EC. A case of leukonychia. J Pediatr. September, 2013; 163(3):914-915. Accessed 2/18/2014.
  2. Yalçin Tüzün, Özge Karakus. Leukonychia. J Turk Acad Dermatol. 2009; 3(1):Accessed 2/18/2014.
  3. Marla J. F. O'Neill. NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3; NDNC3. OMIM. August 11, 2011; https://omim.org/entry/151600. Accessed 2/18/2014.
  4. Lee YB, Kim JE, Park HJ, Cho BK. A case of hereditary leukonychia totalis and partialis. Int J Dermatol. February, 2011; 50(2):233-234. Accessed 2/18/2014.
  5. Balighi K, Moeineddin F, Lajevardi V, Ahmadreza R. A family with leukonychia totalis. Indian J Dermatol. 2010; 55(1):102-104. Accessed 2/18/2014.

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