Leukonychia Totalis

Alternative Names

  • Porcelain Nails
  • Nail disorder, nonsyndromic congenital, 3
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

151600

Mode of Inheritance

Autosomal dominant

Gene Map Locus

3p22.2

Description

Leukonychia totalis is a rare disorder of the nails, where all the nails of the fingers and toes appear strikingly white. The disease may be congenital, or may be acquired later in life secondary to severe systemic illness. The whitening of the nails may sometimes be associated with camptodactyly, hammer toes, gingivitis, hyperkeratosis, deafness, skin cysts, syndactyly of fingers, joint contractures and/or arthrogryposis. Treatment is not required unless for the associated symptoms. Patients need to be reassured that the whitening is not due to any nutritional defect.

Mutations in the PLCD1 (Phospholipase C Delta 1) gene is responsible for causing leukonychia totalis and/or partialis. Familial cases of the disease have been shown to follow an autosomal dominant mode of inheritance. An autosomal recessive mode of inheritance has also been implied [see Epidemiology].

Epidemiology in the Arab World

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Other Reports

Oman

Rao et al. (1994) reported a male (21 years old) with whitish discoloration of all finger and toe nails of four years duration. He was otherwise healthy, with no past history of any illnesses, and no family history of a similar condition. On examining the nails, they were white, uniformly affected, and showed no other abnormality. Systemic examination was normal. Routine investigations (hemogram, liver function tests, renal function tests, FBS, and urine) were normal. The patient was reassured and was`managed by placebos, and throughout the follow up period (three years) he remained to be healthy, while the condition of his nails persisted with no change.

[Rao KD, Ali AMM, Varghese M. Leukonychia Totalis. Oman Med J. 1994; 10(4):47.]

Palestine

Frydman and Cohen (1993) described a family with two siblings of either sex, affected with leuconychia totalis. Their parents were related to each other, but were unaffected. The authors suggested a parental somatic mutation with gonadal mosaicism to explain this apparent autosomal recessive mode of transmission.

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