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Leukonychia totalis in two sibs

M Frydman1, H A Cohen

  • 1Department of Pediatrics, Hasharon Hospital, Petah Tiqwa, Israel.

American Journal of Medical Genetics
|September 15, 1993
PubMed
Summary

This study reports the first apparent autosomal recessive transmission of leukonychia totalis, a nail condition, in siblings from unaffected parents. Unusual family segregation suggests potential parental somatic mutation with gonadal mosaicism.

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Area of Science:

  • Genetics
  • Dermatology
  • Human inheritance patterns

Background:

  • Leukonychia totalis is a nail condition characterized by white discoloration.
  • Nail abnormalities can indicate underlying genetic disorders.
  • Consanguinity in parents increases the risk of autosomal recessive conditions.

Observation:

  • A sister and brother presented with leukonychia totalis and distinct flat, wide nails.
  • The siblings' parents were unaffected and consanguineous.
  • This presentation suggests a potential inherited trait.

Findings:

  • The observed pattern in siblings suggests apparent autosomal recessive transmission of leukonychia totalis.
  • This is the first reported instance of this inheritance pattern for this specific nail condition.
  • The unusual segregation within the family warrants further investigation.

Implications:

  • The findings suggest a possible novel genetic mutation causing leukonychia totalis.
  • Parental somatic mutation with gonadal mosaicism is a potential explanation for the observed inheritance pattern.
  • Further research is needed to confirm the genetic basis and inheritance mode.

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