Abnormalities in the Number of the Teeth

A.Anodontia:
True anodontia, or congenital absence of teeth, may be of two types, total and partial.
Total anodontia, in which all teeth are missing, may involve both deciduous and permanent
dentition. This is a rare condition, frequently associated with hereditary ectodermal dysplasia.
True partial anodontia (hypodontia or oligodontia) involves one or more teeth and is a rather
common condition .
Commonly Missing Teeth in Partial Anodontia:
The third molars (any one or all four of them) are the most frequently observed
congenitally missing teeth.
Maxillary lateral incisors and mandibular premolars are the next most common group of
teeth, which are often congenitally absent.
Congenitally missing deciduous teeth are uncommon but, when occurring, usually
involve the maxillary lateral incisor. Mandibular lateral incisors and mandibular cuspids
may also be missing,
It should be noted that mandibular first molars and mandibular lateral incisors are the
teeth, which are least likely to be missing during anodontia.

Etiology of anodontia

Idiopathic anodontia
Hereditary anodontia
Environmental factor
Ectodermal dysplasia
Incontinentia pigmenti
Hyalinosis cutis mucosae
Mandibulo-oculofacial
dyscephaly
Chondroectodermal
dysplasia
Books syndrome
Riegers syndrome
Downs syndrome
Syndrome associated
anodontia
Radiation injury to the
developing tooth germs
Cleft lip and cleft palate.

Diseases or Clinical Conditions to be Commonly Associated with Partial Anodontia

1. INCONTINENTIA PIGMENTI
Incontinentia pigmenti is transmitted as an X-linked dominant trait and is lethal for
males; only females with the disease survive infancy. Vesicular and erythematous skin
lesions appear shortly after parturition, becoming keratotic. The characteristic lesions are
diffuse, reticulated slate-gray macules that cover broad areas of the skin. Skeletal, ocular,
and neurologic disorders accompany the disease. White lesions may be seen on the oral
mucosa. Delayed eruption, conical crown forms, and oligodontia are the chief dental
anomalies seen.
2. Hyalinosis cutis mucosae:
Hyalinosis cutis et mucosae, also known as lipoid proteinosis and the Urbach-Wiethe
syndrome, is inherited as an autosomal recessive disorder characterized by pathologic
accumulation of glycoproteins in most bodily tissues. Hoarseness or a weak cry from
infancy develops because of vocal cord infi ltration. The skin develops vesicles that, after
healing, appear as acneform scars with altered pigmentation; later, pale yellow nodules
evolve. Multiple papules or nodules develop in the oral cavity, particularly on the tongue,
buccal mucosa, and soft palate. Intracranial calcifi cations, particularly of the dorsum
sellae, and seizures occur, as does decreased sensitivity to pain. Reported dental defects
include hypodontia, primarily involving the maxillary lateral incisors and premolars.
3. Mandibulo-Oculo-Facial dyscephaly:
The mandibulo-oculo-facial dyscephaly syndrome, also known by the eponym
Hallermann-Streiff syndrome, is characterized by brachycephaly with frontal bossing,
small face, beak-like nose, mandibular retrognathia, temporomandibular joint anomalies,
open sutures, and microphthalmia with blue sclera. Hypotrichosis with absent brows,
cutaneous atrophy, spinal deformities, and mild retardation are also featured. Hypodontia
is seen with retention of deciduous teeth, although supernumerary teeth can also be
present. Dental malformations are also commonly encountered. The syndrome is usually
sporadic.

4. Books syndrome: This syndrome is commonly associated with localized hypodontia

and its other features includepremature whitening of hairs and hyperhydrosis of the
palms and soles.
5. Riegers syndrome: It is an autosomal dominant hereditary disorder and it shows
oligodontia or hypodontia with serious ophthalmic defects.

B.Ectodermal Dysplasia ( Disease of Skin)

Ectodermal dysplasia syndrome (EDS) is a large, heterogeneous group of inherited
disorders, the manifestations of which could be seen in more than one ectodermal derivative.
These tissues primarily are the skin, hair, nails, eccrine glands, and teeth. Defects in tissues
derived from other embryologic layers are not uncommon. The disorders are congenital,
diffuse, and nonprogressive. The most common syndromes within this group are
hypohidrotic (anhidrotic) ED and hidrotic ED. Several EDSs may manifest in association
with midfacial defects, mainly cleft lip and palate.
Etiology: Ectodermal dysplasia syndrome results from aberrant development of ectodermal
derivatives in early embryonic life. Genes responsible for the varied syndromes are located
on different chromosomes and may be mutated or deleted.
a. X-linked hypohidrotic ED has been mapped in the proximal area of the long arm of band
Xq-12-q13.1. Decreased expression of the epidermal growth factor receptor has been
proposed as playing a causal role in this conditions phenotype. The gene ED1
responsible for the disorder has been identified.
b. The gene that causes hidrotic ED (Clouston syndrome) has been identified to be GJB6.
c. Mutations of the gene PVRL1, encoding a cell-to-cell adhesion molecule/herpesvirus
receptor, have been reported in those with cleft lip/palate ED

Clinical Features:
EDSs have been reported most often in whites, but they have also been observed in
persons of other races.
X-linked hypohidrotic ED has full expression only in males. Female carriers outnumber
affected men, but females show little or no signs of the condition.
Obvious manifestations of the disorders are not clinically apparent in newborns.
Dental, hair, and nail anomalies are evident during infancy or childhood.

 The number of hair follicles, sweat glands, and sebaceous glands varies. Symptoms of a
reduction in hair follicles vary from sparse scalp hair (usually short, fine and dry) to a
complete absence of hair. Hair bulbs may be distorted, bifid, and small.
Eccrine sweat glands may be absent or sparse and rudimentary, particularly in those with
hypohidrotic EDS. In some cases, mucous glands are absent in the upper respiratory tract
and in the bronchi, esophagus, and duodenum.
The mouth may be dry from hypoplasia of the salivary glands; lacrimal glands also may
be deficient.
Teeth show abnormal morphogenesis or are absent.
Nails are often brittle and thin or show abnormal ridging, but they may be grossly
deformed.
Other signs and symptoms like lack of breast development, deficient hearing or vision,
cleft lip and/or palate and missing fingers or toes are also seen.
a. Hypohidrotic (anhidrotic) ED (Christ-Siemens-Touraine syndrome)
Is the most common phenotype in this group and is usually inherited as an X-linked
recessive trait; autosomal recessive and autosomal dominant forms have been reported
but are rare.
It is characterized by several defects(e.g. hypohidrosis, anomalous dentition,
onychodysplasia, hypotrichosis).
Typical facies are characterized by frontal bossing; sunken cheeks; saddle nose; thick,
everted lips; wrinkled, hyperpigmented skin around the eyes; and large, low-set ears.
Because such characteristics are not obvious at birth, clinical clues for diagnosis in the
neonatal period are extensive scaling of the skin and unexplained pyrexia.
Dental manifestations include conical or pegged teeth, hypodontia or complete anodontia,
and delayed eruption of permanent teeth.
The prevalence of atopic eczema is high. Other common signs are short stature, eye
abnormalities, decreased flow of tears and photophobia. Intelligence is normal.
Oral Manifestations:
Patients with this abnormality invariably manifest anodontia or oligodontia, complete or
partial absence of teeth, with frequent malformation of any teeth present, both deciduous
and permanent dentitions.
Where some teeth are present, they are commonly truncated or cone shaped.
The growth of the jaw is not impaired. However, since the alveolar process does not
develop in the absence of teeth, there is a reduction from the normal vertical dimension
resulting in the protuberant lips.
The profile resembles of an elderly . the skin is dry, smooth and shiny due to abscense of
sweat glands.
In addition, the palatal arch is frequently high and a cleft palate may be present.

 The salivary glands,including the intraoral accessory glands, are sometimes hypoplastic
in this disease. These results in xerostomia, and the protuberant lips may be dry and
cracked with pseudorhagades formation.
As a related phenomenon, there may be hypoplasia of the nasal and pharyngeal mucous
glands which leads to chronic rhinitis and/or pharyngitis, sometimes with associated
dysphagia and hoarseness.
b. Hidrotic ED (Clouston syndrome)
Clinical features include nail dystrophy associated with hair defects and palmoplantar
dyskeratosis. Nails are thickened and discolored; persistent paronychial infections are
frequent. Scalp hair is very sparse, fine, and brittle. Eyebrows are thinned or absent.
Patients have normal facies, normal sweating and no specific dental defect is seen.
Histologic Findings:
Skin histopathology documents the reduction in the number of sweat glands, hair
follicles, and sebaceous glands.
In hypohidrotic EDS, the epidermis is thin and flattened. Eccrine sweat glands are few or
poorly developed or are very rudimentary.
Beyond the skin, mucous glands in the upper respiratory tract and bronchi are often
reduced in number.
Salivary glands may show ectasia of ducts and inflammatory changes.
Treatment: There is no treatment for the condition; however affected individuals with dental
defects could be subjected to early dental evaluation and intervention beginning with dentures
as early as two years.

C.Chondroectodermal Dysplasia (Ellis-van Creveld syndrome)

The disease appears to be inherited as an autosomal recessive characteristic with parental
consanguinity in about 30% of the cases.
Clinical Features:
Chondroectodermal dysplasia is characterized by a number of ectodermal disturbances,
includinginvolvement of the nails and teeth as well as chondrodysplasia, polydactyly and
sometimes congenital heart disease.
The nails are generally hypoplastic with marked koilonychia.
The sweat mechanism has been reported to be normal in contrast to that in hereditary
anhidrotic ectodermal dysplasia.
The arms and legs are shortened and thickened. The bilateral polydactyly affects the
hands and occasionally the feet.
Many additional malformations are often present, although cardiac abnormalities are
present in only about half of all cases.

Oral Manifestations:
The most constant oral finding is a fusion of the middle portion of the upper lip to the
maxillary gingival margin eliminating the normal mucolateral sulcus.
Thus, the middle portion of the upper lip appears hypoplastic.
Natal teeth, prematurely erupted deciduous teeth, frequently occur as well as congenital
absence of teeth, particularly in the anterior mandibular segment.
Tooth eruption is often delayed and those erupted are commonly defective, being small,
cone-shaped, irregularly spaced and demonstrating enamel hypoplasia.
Supernu merary teeth are also reported.
Treatment: There is no treatment for the disease. Some patients die in early childhood.