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 an abnormal nail condition that is inherited in an autosomal dominant manner. In this condition, whitening of all the nail plates of the fingernails and toenails is noted
• Leukonychia Totalis is sometimes associated with a variety of conditions and abnormalities such as Bart-Pumphrey syndrome, leprosy, biting of nails, and severe keratosis pilaris
• The management of Leukonychia Totalis may involve treating the underlying associated condition (if any present) and vitamin E supplementation, as needed. The overall prognosis depends on the severity of the nail condition and any associated abnormality

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 in some cases
• A variety of disorders and conditions have been associated with Leukonychia Totalis, which include:
  • Absence of hair growth
  • Bart-Pumphrey syndrome
  • Brittle nails
  • Buschkell-Gorlin syndrome, occurring with sebaceous cysts and kidney stones. 
  • Certain cysts
  • Cytotoxic medications given for trichinosis 
  • Habit of nail biting
  • Leprosy
  • Liver cirrhosis
  • Palmoplantar keratoderma (PPK)
  • Pili torti
  • Severe forms of keratosis pilaris
  • Spoon-shaped nails
  • Typhoid fever

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 a genetic disorder with an autosomal dominant or autosomal recessive mode of inheritance. It may be caused by mutations involving the PLCD1 gene
• The disorder may be observed in association with a host of conditions and disorders such as keratosis pilaris, typhoid, biting of nails, and palmoplantar keratoderma

In a few cases, the cause of development of Leukonychia Totalis is not understood (idiopathic). It may develop sporadically (due to random mutations), and in such cases, a family history is not noted.

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 structure of the fingernails and toenails
• White discoloration on the nails (leukonychia)
• Abnormality of the eyelashes
• Inflammation of the eyelid (blepharitis)
• Sensitivity to light

Additionally, the signs and symptoms of the underlying causative condition may be noted.

How is Leukonychia Totalis Diagnosed?

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

• Physical examination of the individual and medical history evaluation
• Assessment of the presenting signs and symptoms
• Eye and vision exam
• Dermoscopy: Dermoscopy is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
• Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
• Skin biopsy, if necessary: A skin biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis
• Molecular genetic testing to check for or confirm specific causative gene mutation(s)
• Prenatal testing including abdominal ultrasound scans

Diagnostic tests to check for an underlying disorder or condition, if present, is important.

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
• Nephrolithiasis or kidney stones
• Complications may arise from the underlying causative condition

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. This may involve:
  • Use of antifungal medication
  • Vitamin E supplementation
  • Prophylactic antibiotic therapy
• 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

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

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

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:

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

https://www.dovemed.com/healthy-living/skin-disorders/