White Sponge Nevus 1; Wsn1

Description

White sponge nevus is a rare autosomal dominant disorder of noncornifying squamous epithelial differentiation that presents clinically as white, soft, thick plaques of the oral mucosa. Less frequently, the mucous membranes of the nose, esophagus, genitalia, and rectum are involved. Histopathologic features, including epithelial thickening, parakeratosis, extensive vacuolization of the suprabasal keratinocytes, and compact aggregates of keratin intermediate filaments in the upper spinus layers resemble those found in epidermal disorders shown to be associated with keratin defects (summary by Richard et al., 1995). Genetic Heterogeneity of White Sponge NevusWhite sponge nevus-2 (WSN2 ) is caused by mutation in the KRT13 gene (OMIM ) on chromosome 17q21.

Clinical Features

Phenotypes and symptoms related to White Sponge Nevus 1; Wsn1

  • Nevus
  • Abnormality of metabolism/homeostasis
  • Oral leukoplakia

Incidence and onset information

Not enough data available about incidence and published cases.


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White Sponge Nevus 1; Wsn1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KRT13.

By Institute for Human Genetics University Clinic Freiburg in Germany.

KRT13
Specificity
100 %
Genes
50 %
KRT13 Gene Sequencing.

By GeneDx in United States.

KRT13
Specificity
100 %
Genes
50 %
KRT13.

By Fulgent Genetics Fulgent Genetics in United States.

KRT13
Specificity
100 %
Genes
50 %
KRT4.

By Institute for Human Genetics University Clinic Freiburg in Germany.

KRT4
Specificity
100 %
Genes
50 %
KRT4 Gene Sequencing.

By GeneDx in United States.

KRT4
Specificity
100 %
Genes
50 %
KRT4.

By Fulgent Genetics Fulgent Genetics in United States.

KRT4
Specificity
100 %
Genes
50 %

Alternate names

White Sponge Nevus 1; Wsn1 Is also known as white sponge nevus of cannon, leukokeratosis, hereditary mucosal;hereditary mucosal leukokeratosis; white sponge nevus of cannon.



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