White Lesions: Hereditary Conditions Flashcards
Hereditary Conditions
a. Leukoedema
b. White Sponge Nevus (Cannon’s Disease)
c. Hereditary Benign Intraepithelial Dyskeratosis
d. Follicular Keratosis (Darier’s Disease)
- A generalized mild opacification of the buccal mucosa
- Variation of normal
Leukoedema
- Buccal Mucosa
- Thin “milky” white coloration
- Asymptomatic and symmetrically distributed
- Diffuse
- Filmy
Leukoedema
Factors such as smoking, chewing tobacco, alcohol ingestion, bacterial infection, salivary conditions, electrochemical interactions, and a possible association with cannabis use have been implicated, but none are specifically proven causes.
Leukoedema
With stretching of the buccal mucosa, the opaque changes dissipate
Leukoedema
- treatment is not Necessarily
- Changes are innocuous and no malignant potential.
Leukoedema
The epithelium is parakeratotic and acanthotic, with marked intracellular edema of spinous cells. The
enlarged epithelial cells have small, pyknotic (condensed) nuclei in optically clear cytoplasm.
Leukoedema
White sponge nevus, hereditary benign intraepithelial
dyskeratosis, the response to chronic cheek biting, and lichen planus all may show clinical similarities
Leukoedema
autosomal-dominant inherited condition that is due to point mutations for genes coding
for keratin 4 and/or 13.
White Sponge Nevus (Cannon’s disease)
asymptomatic, folded, white lesion that
may affect several mucosal sites
thick and spongy lesions consistency.
almost always bilateral and symmetric
usually appears early in life, typically before puberty.
White Sponge Nevus (Canon’s Disease)
The epithelium is greatly thickened, with marked spongiosis, acanthosis, and parakeratosis.
White Sponge Nevus (Canon’s Disease)
TREATMENT
- Not Necessarily
- Asymptomatic and benign
White Sponge Nevus (Canon’s Disease)
an abnormality of the buccal mucosa which clinically resembles early leukoplakia, but appears to differ from it in certain respects
Leukoedema
soft, asymptomatic, white folds and plaques of spongy mucosa
early onset (usually within the first year of life) of bulbar conjunctivitis, conjunctival plaques
at the corneal limbus, and oral white lesions
Foamy gelatinous plaques that represent the ocular counterpart of the oral mucosal lesions
Hereditary Benign Intraepithelial Dyskeratosis
Similarities between oral and conjunctival lesions are noted microscopically. Epithelial hyperplasia and acanthosis are present with intracellular edema. Enlarged hyaline keratinocytes are the dyskeratotic elements that are present in the superficial half of the epithelium
Hereditary Benign Intraepithelial Dyskeratosis
No treatment is necessary because this condition is self-limiting and benign. It appears to pose no risk of malignant
transformation. Genetic counseling may be sought
Hereditary Benign Intraepithelial Dyskeratosis
Witkop disease or Witkop-von Sallmann syndrome, is a rare, hereditary condition (autosomal dominant).
Hereditary Benign Intraepithelial Dyskeratosis
The conjunctival mucosa is usually spared, but mucosa of the esophagus, anus, vulva, and vagina
may be affected.
White Sponge Nevus (Cannon’s disease)
Skin manifestations are characterized by small, skin-colored papular lesions, symmetrically distributed over the face,
trunk, and intertriginous areas.
Oral lesions typically appear as small, whitish papules, producing an overall cobblestone appearance.
Follicular Keratosis (Darier’s disease)
Papules range from 2 to 3 mm in diameter and may become coalescent.
Extension beyond the oral cavity into the oropharynx and pharynx may occur.
Follicular Keratosis (Darier’s disease)
Oral lesions closely resemble cutaneous lesions.
Features include:
(1) formation of suprabasal lacunae (clefts) containing acantholytic epithelial cells,
(2) basal layer proliferation immediately below and adjacent to the lacunae or clefts,
(3) formation of vertical clefts that show a lining of parakeratotic and dyskeratotic cells, and
(4) the presence of specific benign dyskeratotic cells, called corps ronds and grains
Follicular Keratosis (Darier’s disease)
The goal of treatment is to improve the appearance of the skin lesions, reduce symptoms, and prevent or treat infective
complications.
Topical corticosteroids and the vitamin A analog retinoic acid have been used effectively, but long-term
therapy is tolerated poorly.
The disease is chronic and slowly progressive; remissions may be noted in some patients.
Follicular Keratosis (Darier’s disease)
It is an autosomal-dominant disorder
Results in desmosome defects and dysfunction by way of altered epithelial cell adhesion
Follicular Keratosis (Darier’s disease)
