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Leukonychia Totalis

Last updated Oct. 13, 2018

Approved by: Maulik P. Purohit MD, MPH

Leukonychia Totalis is a nail condition characterized by complete whitening of the entire nail plate.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Hereditary White Nails
  • Non-Syndromic Congenital Nail Disorder 3 (NDNC3)
  • Porcelain Nails

What is Leukonychia Totalis? (Definition/Background Information)

  • Leukonychia Totalis is a nail condition characterized by complete whitening of the entire nail plate
  • 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
  • The inherited forms can be caused by mutations in the PLCD1 gene and generally involve the entire plate of all 20 nails
  • 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

(Source: Leukonychia Totalis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Leukonychia Totalis? (Age and Sex Distribution)

  • Leukonychia Totalis is a rare congenital disorder. The presentation of symptoms may occur at any age
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Leukonychia Totalis? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Leukonychia Totalis can be inherited
  • A variety of disorders and conditions have been associated with Leukonychia Totalis

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Leukonychia Totalis? (Etiology)

  • Leukonychia Totalis is caused by mutation(s) in the PLCD1 gene, and inherited in an autosomal dominant or recessive manner
  • In some cases, Leukonychia Totalis occurs in association with other underlying abnormalities or syndromes. Conditions that have been reported include the following:
  • Palmoplantar keratoderma
  • Certain types of cysts
  • Severe keratosis pilaris
  • Pili torti
  • Hypotrichosis (lack of hair growth)
  • Onychorrhexis (brittle nails)
  • Koilonychia (spoon-shaped nails)
  • Bart-Pumphrey syndrome
  • Buschkell-Gorlin syndrome, when it occurs with sebaceous cysts and kidney stones. 
  • Typhoid fever
  • Leprosy
  • Cirrhosis
  • Nail biting
  • The condition can be associated with trichinosis cytotoxic drugs (drugs that are toxic to cells) as well
  • In a few cases, the cause of leukonychia is unknown (idiopathic)

(Source: Leukonychia Totalis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal dominant inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

Autosomal recessive inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Leukonychia Totalis?

The signs and symptoms of Leukonychia Totalis may include:

  • Abnormal toenail morphology
  • Abnormality of the fingernails
  • Adenoma sebaceum
  • Abnormality of the eyelashes
  • Blepharitis
  • Concave nail
  • Photophobia
  • Leukonychia
  • Nephrolithiasis

(Source: Leukonychia Totalis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Leukonychia Totalis Diagnosed?

The diagnosis of Leukonychia Totalis is made on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary
  • Molecular genetic testing to check for or confirm causative gene mutation(s)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Leukonychia Totalis?

The complications of Leukonychia Totalis may include:

  • Cosmetic concerns
  • Low self-esteem due to atypical appearance of nails

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Leukonychia Totalis Treated?

  • There is no cure for Leukonychia Totalis, if it is an inherited condition. The treatment is usually given to manage the signs and symptoms and any complications that develop
  • However, if the disorder occurs as a result of another medical condition, then treatment of the causative condition may help improve the signs and symptoms associated with Leukonychia Totalis

How can Leukonychia Totalis be Prevented?

Currently, Leukonychia Totalis may not be preventable, if it is inherited.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • If Leukonychia Totalis occurs secondary to another medical condition, then seeking medical attention for the underlying disorder may help decrease the signs and symptoms of this nail condition
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Leukonychia Totalis? (Outcomes/Resolutions)

  • The prognosis of Leukonychia Totalis is generally good
  • However, if Leukonychia Totalis is part of a syndrome (underlying condition), then the outcome may be determined by the severity of the primary syndrome

Additional and Relevant Useful Information for Leukonychia Totalis:

  • Leukonychia Totalis is also known as Total Leukonychia

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Oct. 13, 2018
Last updated: Oct. 13, 2018