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Related Experiment Videos

Hereditary 'white nails': a genetic and structural study.

E E Norgett1, F Wolf, B Balme

  • 1Centre for Cutaneous Research, Barts and The London School of Medicine and Dentistry, Queen Mary, UK.

The British Journal of Dermatology
|July 24, 2004
PubMed
Summary
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Hereditary white nails (leuconychia) are linked to chromosome 12q13, potentially caused by mutations in type II keratin genes. This genetic defect results in abnormal keratinization and nail plate structure.

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Hereditary subtotal leuconychia is a rare nail disorder with unknown genetic causes.
  • Previous studies have infrequently utilized immunohistochemical and ultrastructural analyses for nail diseases.

Purpose of the Study:

  • To conduct genetic linkage analysis to identify the gene responsible for hereditary white nails.
  • To investigate the ultrastructure and keratin expression in affected nails.

Main Methods:

  • Microscopic and ultrastructural analysis of white nails from an autosomal dominant family.
  • Genetic linkage studies using DNA from family members.
  • Histopathological and keratin antibody staining of nail biopsy samples.

Main Results:

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  • Genetic linkage mapped the disease gene to chromosome 12q13, a region containing type II and hard keratin genes.
  • Abnormal hypergranulosis and intracellular vacuoles were observed in the nail matrix.
  • The nail plate showed altered keratinization, with reduced hard keratin and increased soft keratin markers.

Conclusions:

  • The gene defect for hereditary leuconychia in this family is located on chromosome 12q13.
  • Mutations in type II keratin genes are a potential cause of this condition.
  • Abnormal keratinization and reduced keratin compactness lead to the white nail appearance.