4 Congenital and developmental abnormalities of the oral mucosa

Congenital anomalies of the oral cavity arise as a result of disturbances during the embryogenesis. Lips, gingiva, hard palate, floor or oral cavity or tongue – all these organs can be affected. Most anomalies are detected at birth, some can nevertheless only be noticed later, at the infant age.

Congenital anomalies of the lips include cleft lip, double lip, congenital fistulas and lip pits (recesses and paramedial sinuses), which can be mucus-secreting.

Many congenital malformations of the tongue are extremely rare, such as aglossia (missing tongue), microglossia (congenitally small tongue), ankyloglossia (lingua accreta, tongue tie), cleft tongue (lingua bifida) or double tongue (diglossia vera).

4.1 Cleft lip


Cleft lip is a developmental abnormality affecting usually the upper lip, often in combination with cleft jaw and cleft palate. The cause is an incomplete adhesion of the jaw and nasal processes of the upper jaw during the embryonic development. The cleft can be both uni-or bilateral, complete or incomplete. The fusion of individual parts of the upper lip takes place later during embryogenesis than in the lower lip, which is the reason for the upper lip being more prone to this defect.

Th.: Complex, depending on the severity of the anomaly.

4.2 Double lip


This abnormality can either have a congenital etiology or can be acquired as a result of an injury. It manifests as a hypertrophied mucosa on either lip, which can protrude especially while speaking or smiling.

Th.: Surgical correction.

4.3 Bifid uvula/hypoplasia of the uvula


Bifid uvula is a congenital cleft of the uvula, often considered the slightest form of cleft palate. Hypoplasia of the uvula means that the uvula is insufficiently developed; if it is missing completely, we speak of aplasia. All these congenital abnormalities can occur isolated or as a part of certain syndromes.

4.4 Ankyloglossia (lingua accreta, tongue tie)


Ankyloglossia is a relatively rare congenital abnormality in which the frenulum of the tongue is short or attached close to the tip of the tongue. The frenulum is in such cases usually strong and fibrotic. Tongue mobility and function are affected which results in difficulties when swallowing and talking.

Th.: Surgical.

4.5 White sponge nevus (Cannon disease, naevus spongiosus albus)


White sponge nevus is a rare autosomal dominant hereditary disease with which the child is born or which first manifests during childhood. It progresses until early adulthood and then stabilizes.

In this disease, the oral mucosa is affected by white or white-grey efflorescences with multiple furrows and a “spongy" surface. Lesions are usually symmetrical, occurring most frequently on the buccal mucosa but possibly occurring anywhere in the oral cavity. Some patients also show similar symptoms on the vaginal or rectal mucosa. Histologically, this disease manifests as mucosal hyperplasia with local hydropic epithelial degeneration.

Th.: Not necessary.

Dif. dg.: When differentiating among the diseases with white mucosal lesions, family history combined with the manifestation of the problems in childhood and histological examination are keys to identifying the disease.

4.6 Darier disease (hereditary follicular dyskeratosis)


Darier disease is a rare autosomal dominant hereditary disorder affecting predominantly males. The symptoms manifest during childhood or adolescence. Typically, the disease affects skin and nails, mucosa (oral, rectal, genitals) can however also be affected.

The disease manifests as multiple, brownish-red papules on the skin that usually combine to form large areas. The oral mucosa is affected in 20-40% of patients. The extent and severity of the disease of the mucosa in the oral cavity depends on the activity of the disease on the skin. In the mouth, typical lesions appear as small white papules, which may combine to form larger areas and be hypertrophic.

Th.: Vitamin A and retinoic acid derivatives are used for therapy.

4.7 Geographic tongue (lingua geographica, glossitis migrans)


Geographic tongue is considered to be a developmental abnormality. It may occur at any age approx. in 2-10 % of the population. Familial occurrence is common; it usually occurs together with plicated tongue (lingua plicata). Clinical signs include vast red patches on the mucosa of the dorsum of the tongue. Some patients experience enhanced sensitivity of the tongue when eating some foods (citrus, spices).

Red patches of various sizes are forming and rapidly changing, spreading centripetally into the surrounding physiological coating of the tongue. Their formation is associated with a complete loss of all 3-4 keratin hairs of filiform papillae, which is preceded by excessive keratinization (macroscopically, it looks like a focal whitish thickening of the mucosa) and by prominent desquamation of the squamous-cell epithelium of hair-like prominences covered with bacterial colonies. Spongy papillae are preserved and visible inside the patches. Such red foci can be circumscribed with white margins along their perimeter where the above-mentioned process is proceeding, thereby spreading the depapillated patches into the surroundings. In several hours or days, the filiform papillae restore quickly and red patches disappear completely. The tendency to recurrence is high. Besides familial occurrence, infectious, psychogenic and neurohumoral factors play a role.

Th.: Not possible, the patient must be instructed about the nature of the disease.

Dif. dg.: It is important to distinguish the geographic tongue from the onset of atrophic glossitis. The main differences are:

Geographic tongueAtrophic glossitis (smooth tongue)
Smooth patches are changing quicklySmooth patches are changing very slowly
Spontaneous reversibility of changesThe changes do not regress spontaneously
Constant changes Changes usually progress up to the development of the full picture of the smooth tongue
The surface area of the unaffected parts of the tongue is normalThe papillae are also changed on other parts, fissures, erosions or petechiae may be present
The transition of papillae has usually circumscribed, often rolled margins The transition of papillae into smooth areas is fuzzy
Most common in children and young individualsMost common in adults and elderly individuals
General examination is usually negativeAnaemia, metabolic disorders or the use of medication are often found during the general examination

4.8 Fissured tongue (l. plicata/ gyrata/scrotalis/cerebriformis/fissurata)


This disorder counts among the anomalies with unknown etiology. It is an abnormality in the structure of the dorsum of the tongue, sometimes associated with a general enlargement of the tongue (macroglossia) characterized by the presence of symmetrical grooves and elevations determined by muscle fascicles (resembling cerebral convolutions). Changes are usually asymptomatic and mostly stationary and may sometimes progress with age. Some individuals experience enhanced sensitivity and burning of the tongue of various intensities, particularly while eating (and often after the intake of alcohol).

Th.: Therapy is not possible, it is important to instruct patients properly about the harmlessness of changes (the possibility of cancerophobia).

Dif. dg.: It may sometimes occur together with other diseases such as syphilis, TB, or OLP. Combined with facial nerve paralysis and granulomatous cheilitis, it constitutes the Melkerson-Rosenthal syndrome.

4.9 Crenated tongue (impressions on the sides of the tongue)


This term describes changes on the lateral edges of the tongue, which are probably caused by indentations of the adjacent teeth. The oral mucosa in the area of crenation is usually without visible changes, although erythema, erosions, enlarged lingual papillae and whitish edges in the vicinity of the indentations may occur. In such cases, the mucosa is also sensitive or even painful. We can also find changes on the buccal mucosa (linea alba, repetitive biting). Where the condition causes discomfort, it is beneficial to grind off the sharp cusps of the teeth traumatizing the edge of the tongue or to make a protective occlusal splint.