White sponge nevus

General Information (adopted from Orphanet):

Synonyms, Signs: LEUKOKERATOSIS, HEREDITARY MUCOSAL
WSN
white sponge nevus of cannon
Hereditary mucosal leukokeratosis
Number of Symptoms 7
OrphanetNr: 171723
OMIM Id: 193900
ICD-10: Q38.6
UMLs:
MeSH:
MedDRA:
Snomed: 389203001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic skin tumor
 -Rare genetic disease
Rare nevus
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0002745) Oral leukoplakia 17 / 7739
2
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
 (OMIM) Thickened white opalescent spongy-fold mucosa in mouth 1 / 7739
5
 (OMIM) Vaginal, rectal and nasal leukokeratosis 1 / 7739
6
 (OMIM) Characteristic cell-within-cell histologic change 1 / 7739
7
 (OMIM) No conjunctival involvement 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM White sponge nevus is manifested by thickened spongy-fold mucosa with a white opalescent tint in the mouth. The vagina, rectum, and nasal cavity may be similarly involved. It is differentiated from benign intraepithelial dyskeratosis (127600) by the presence ...
Molecular genetics OMIM In affected members of 2 Scottish kindreds with white sponge nevus, Rugg et al. (1995, 1995) found heterozygosity for a 3-bp deletion in the 1A domain of the KRT4 gene (123940.0001).

In 3 affected members of ...