White Lesions: Hereditary Conditions

Question 1

Hereditary Conditions

Answer 1

a. Leukoedema
b. White Sponge Nevus (Cannon’s Disease)
c. Hereditary Benign Intraepithelial Dyskeratosis
d. Follicular Keratosis (Darier’s Disease)

Question 2

• A generalized mild opacification of the buccal mucosa
• Variation of normal

Answer 2

Leukoedema

Question 3

• Buccal Mucosa
• Thin “milky” white coloration
• Asymptomatic and symmetrically distributed
• Diffuse
• Filmy

Answer 3

Leukoedema

Question 4

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.

Answer 4

Leukoedema

Question 5

With stretching of the buccal mucosa, the opaque changes dissipate

Answer 5

Leukoedema

Question 6

• treatment is not Necessarily
• Changes are innocuous and no malignant potential.

Answer 6

Leukoedema

Question 7

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.

Answer 7

Leukoedema

Question 8

White sponge nevus, hereditary benign intraepithelial
dyskeratosis, the response to chronic cheek biting, and lichen planus all may show clinical similarities

Answer 8

Leukoedema

Question 9

autosomal-dominant inherited condition that is due to point mutations for genes coding
for keratin 4 and/or 13.

Answer 9

White Sponge Nevus (Cannon’s disease)

Question 10

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.

Answer 10

White Sponge Nevus (Canon’s Disease)

Question 11

The epithelium is greatly thickened, with marked spongiosis, acanthosis, and parakeratosis.

Answer 11

White Sponge Nevus (Canon’s Disease)

Question 12

TREATMENT

• Not Necessarily
• Asymptomatic and benign

Answer 12

White Sponge Nevus (Canon’s Disease)

Question 13

an abnormality of the buccal mucosa which clinically resembles early leukoplakia, but appears to differ from it in certain respects

Answer 13

Leukoedema

Question 14

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

Answer 14

Hereditary Benign Intraepithelial Dyskeratosis

Question 15

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

Answer 15

Hereditary Benign Intraepithelial Dyskeratosis

Question 16

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

Answer 16

Hereditary Benign Intraepithelial Dyskeratosis

Question 17

Witkop disease or Witkop-von Sallmann syndrome, is a rare, hereditary condition (autosomal dominant).

Answer 17

Hereditary Benign Intraepithelial Dyskeratosis

Question 18

The conjunctival mucosa is usually spared, but mucosa of the esophagus, anus, vulva, and vagina
may be affected.

Answer 18

White Sponge Nevus (Cannon’s disease)

Question 19

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.

Answer 19

Follicular Keratosis (Darier’s disease)

Question 20

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.

Answer 20

Follicular Keratosis (Darier’s disease)

Question 21

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

Answer 21

Follicular Keratosis (Darier’s disease)

Question 22

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.

Answer 22

Follicular Keratosis (Darier’s disease)

Question 23

It is an autosomal-dominant disorder

Results in desmosome defects and dysfunction by way of altered epithelial cell adhesion

Answer 23

Follicular Keratosis (Darier’s disease)