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Items: 3

1.

White sponge nevus

White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa. [from ORDO]

MedGen UID:
831070
Concept ID:
CN200300
Finding
2.

Nevus

A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. [from HPO]

MedGen UID:
425158
Concept ID:
CN003400
Finding
3.

White sponge nevus of cannon

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 Nevus White sponge nevus-2 (WSN2; 615785) is caused by mutation in the KRT13 gene (148065) on chromosome 17q21. [from OMIM]

MedGen UID:
328433
Concept ID:
C1721005
Disease or Syndrome
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