Leukonychia totalis
Alternate names[edit | edit source]
Hereditary white nails; Porcelain nails; Nail disorder, nonsyndromic congenital, 3; NDNC3; Total leukonychia
Definition[edit | edit source]
Leukonychia totalis is a nail condition characterized by complete whitening of the entire nail plate.
Cause[edit | edit source]
- Leukonychia totalis (also called total leukonychia) is thought to be due to abnormal keratinization (conversion into keratin) of the nail plate.
- 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.
- These inherited forms can be caused by mutations in the PLCD1 gene.
- 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 pilaris; pili 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.
- It has also reportedly been associated with typhoid fever, leprosy, cirrhosis, nail biting, trichinosis, and cytotoxic drugs (drugs that are toxic to cells).
- In a few cases, the cause of leukonychia is unknown (idiopathic).
Inheritance[edit | edit source]
Leukonychia totalis can be inherited in either an autosomal dominant or autosomal recessive manner. It may also occur as part of various underlying conditions or abnormalities, some of which have their own specific genetic cause(s) and inheritance patterns. In some cases, the condition is idiopathic (of unknown cause).
- Autosomal dominant inheritance means that having a change (mutation) in only one copy of the disease-causing gene is enough to cause signs or symptoms. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene.
- Autsomal recessive inheritance means that a person must have mutations in both copies of the disease-causing gene to have the condition. Usually, one mutated copy is inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms.
Signs and symptoms[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Abnormal fingernail morphology(Abnormal fingernails)
- Abnormal toenail morphology(Abnormality of the toenail)
- Adenoma sebaceum
- Nephrolithiasis(Kidney stones)
30%-79% of people have these symptoms
- Abnormal eyelash morphology(Abnormal eyelashes)
- Blepharitis(Inflammation of eyelids)
- Photophobia(Extreme sensitivity of the eyes to light)
5%-29% of people have these symptoms
- Type II diabetes mellitus(Noninsulin-dependent diabetes)
Diagnosis[edit | edit source]
Based on the history and clinical findings, a diagnosis of “idiopathic acquired true leukonychia totalis” was made. [1][1].
Treatment[edit | edit source]
- There is no universally successful treatment for the whitening of the nails in people with leukonychia totalis.
- However, if the condition is known to have an underlying cause, treating that cause (when possible) may improve the condition.
References[edit | edit source]
- ↑ Das, A., Bandyopadhyay, D., & Podder, I. (2016). Idiopathic Acquired True Leukonychia Totalis. Indian journal of dermatology, 61(1), 127. https://doi.org/10.4103/0019-5154.174193
NIH genetic and rare disease info[edit source]
Leukonychia totalis is a rare disease.
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