DEVELOPMENTAL DISTURBANCES OF ORAL TISSUES II- Developmental Disturbances Affecting the Oral Mucosa Prf. Dr. Gamal Fatah-ALLAH

Titles DEVELOPMENTAL DISTURBANCES OF THE FACE I- Developmental Disturbances of The tongue. II- Developmental Disturbances of The Oral mucosa IV- Developmental Disturbances of The lip. V- Developmental Disturbances of The Jaws. VI- Developmental Disturbances of The Salivary glands. DEVELOPMENTAL DISTURBANCES OF THE FACE VIII- Syndromes associated with abnormalities of oral tissues:

DEVELOPMENTAL DISTURBANCES OF THE FACE Microstomia. Macrostomia. Facial Hemihypertrophy. Facial Hemiatrophy. Facial Clefts.

1- Microstomia Microstomia means an abnormally small mouth. It is due to excessive fusion between maxillary and mandibular processes.

2- Macrostomia Excessively large mouth. It is due to premature arrest of fusion between maxillary and mandibular processes bilaterally. , Oral Pathology, 1 Oral Medicine th Lect. 4

3- Facial Hemihypertrophy (Hemifacial Hypertrophy) Enlargement of half of the head with enlarged teeth on the involved side. Female predilection; 15-20% have mental retardation and seizures; Etiology: Unknown. Hormonal imbalance. Incomplete twinning. Chromosomal abnormalities. Lymphatic or vascular or neurogenic abnormalities.

Facial Hemihypertrophy Significant unilateral enlargement of the face (frontal bone, maxilla, palate, mandible, alveolar process, condyle, and associated soft tissues); usually the right side Malocclusion due to enlarged teeth. Roots and crowns of the teeth are often enlarged and often erupt early. Unilateral macroglossia with increase size of fungiform papilla.

Unilateral enlargement of the face. Malocclusion due to enlarged teeth. Unilateral macroglossia with increase size of fungiform papilla.

4- Facial Hemiatrophy (Hemifacial Atrophy) Progressive atrophy of some or all of the tissues on one side of the face, occasionally extending to other parts of the body. Etiology: Unknown peripheral nerve dysfunction Trauma infection, Heredity unilateral progressive systemic sclerosis.

Clinical Appearance of Hemifacial Atrophy Onset in 1st or 2nd decade of life, the left side of the face is more commonly affected. Characteristic loss in the soft tissues (hollowing of cheek) below the skin, usually on one side of the face; in some severe cases, the underlying bone is also affected. Jaw bones and roots of teeth on affected side my exhibit delayed development and retarded tooth eruption.

Clinical Appearance of Hemifacial Atrophy Note, hollowing of the cheek & atrophy of jaw bones of the affected side.

5- Facial Clefts Failure of obliteration of the ectodermal grooves between facial process result in facial clefts. Types: Oblique facial cleft Transverse Facial Cleft

A-Oblique facial cleft Rare developmental cleft runs from the inner canthus of the eye to the ala of the nose or upper lip (path of the nasolacrimal duct). Failure of maxillary and lateral nasal processes mesenchyme to obliterate the ectodermal groove between these processes. It is usually unilateral, but may be bilateral Always associated with cleft lip and cleft palate.

Developmental cleft runs from the inner canthus of the eye to the ala of the nose or upper lip along the path of the nasolacrimal duct.

B- Transverse Facial Cleft Cleft running from the angle of the mouth toward the ear. Due to failure of migration and filling of ectomesenchyme along the line of fusion between the maxillary and mandibular processes. May be unilateral or bilateral, partial or complete,

B A C Cleft running from the angle of the mouth toward the ear. Partial unilateral (A) bilateral complete(B) bilateral partial(C)

VIII- Syndromes associated with abnormalities of oral tissues Titles I- Developmental Disturbances of The tongue. II- Developmental Disturbances of The Oral mucosa IV- Developmental Disturbances of The lip. V- Developmental Disturbances of The Jaws. VI- Developmental Disturbances of The Salivary glands. VII- DEVELOPMENTAL DISTURBANCES OF THE FACE VIII- Syndromes associated with abnormalities of oral tissues

Treacher Collins syndrome. Pierre Robin syndrome. Peutz-Jegher syndrome. Gardner's syndrome. Mongolism. Oxycephaly.

1- Treacher Collins syndrome Rare genetic disorder characterized by craniofacial deformities. May be inherited from a parent affected with the syndrome. This condition is a result of a defect of the first arch during development. Treacher Collins Syndrome also called mandibulofacial dysostosis.

Clinical Features of Treacher Collins syndrome Down-slanting eyes (antimongoloid eyes). Notched lower eyelids (called a coloboma). Underdevelopment or absence of cheekbones. Lower jaw is small and sloping. Underdeveloped, malformed ears, cause hearing loss in about half of cases (congenital deafmutism). Cleft palate may be present.

Down-slanting eyes (antimongoloid eyes). Notched lower eyelids (called a coloboma). Underdevelopment or absence of cheekbones. Lower jaw is small and sloping. Underdeveloped, malformed ears.

2- Pierre Robin Syndrome Condition present at birth in which an infant has a very small lower jaw, Tongue tends to fall back and downward A cleft palate. Etiology : Unknown or genetic.

Main Characters of Pierre Robin Syndrome Micrognathia. U-shaped palatal cleft. Glossoptosis / airway obstruction.

3- Peutz-Jeghers syndrome Rare autosomal dominant. Clinical Features: The freckles; The freckles are usually present in infancy or childhood and may fade with age. Lips or in the mouth & around the eyes and nose (around facial openings). May be around the hands and feet. Hamartomatous polyps, multiple, usually in the small intestine. They may eads to abdominal pain and intestinal obstruction.

Note, The freckles occur around facial openings.

Clinical Pictures of Peutz-Jeghers syndrome Freckles are also can be seen around the hands and feet. Freckles on the oral mucosa: buccal mucosa& inner side of lips

Gastrointestinal polyps are hamartomas Gastrointestinal polyps are hamartomas. They often are multiple and usually occur in the small intestine .

4- Gardner's syndrome Inherited autosomal dominant characterized by: Osteomas of the skull Supernumerary teeth Odontomas Epidermoid cysts, fibromas and sebaceous cysts. Adenomatous polyps in the colon predispose to the development of colon cancer.

Manifestations of Gardner's Syndrome Supernumerary teeth & odontomas. Osteomas of the skull, Epidermoid cysts, fibromas & sebaceous cysts. Polyps in the colon.

5- Down Syndrome (Mongolism, Trisomy 21) Trisomy 21 is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome. Clinical Features: Mental retardation (Mild to severe). Characteristic head: Small head (brachycephaly) Flat facies with increased interocular distance (hypertelorism), Depressed nasal bridge. Single transverse palmar crease (a single instead of a double crease) across one or both palms (Simian crease).

1- Small mouth (relatively) with protrusion of the tongue (macroglossia) and difficulty in eating and speaking. 2- Hypoplasia of the maxilla. 3- Delayed tooth eruption. 4- Hypodontia. 5- Juvenile periodontitis. 6- Cleft lip or palate (rare). 7- Fissured and geographic tongue. 8- Fissuring and thickening of the lips and angular cheilitis are frequent and increase in incidence and severity with age.

1-Characteristic small head (brachycephaly), flat facies with increased interocular distance (hypertelorism), depressed nasal bridge. 2- Single transverse palmar crease.

6- Oxycephaly Rare hereditary disease of the skull; the top of the skull assumes a cone shape. Caused by premature closure of the coronal & lambdoid sutures. Clinical Features: Signs of intracranial pressure such as headache and optic atrophy may be present. The maxilla is small, narrow, retruded with crowding of teeth. Radiographic appearance: Arcuate convolutions (copper beaten appearance) markings are seen as a result of intracranial pressure.

Note, top of the skull assumes a cone shape, The maxilla is small, narrow, retruded & copper beaten appearance in radiograph.

Pathogenesis: To explain the 3 main features of the syndrome (Cleft palate, micrognathia & glossoptosis) during early stage of the formation of jaw bones, arrest of mandibular development occurred. Therefore the tongue remain high in its position preventing the 2 palatine processes of the maxilla from fusion causing cleft palate which is U-shaped coinciding with the shape of the tongue borders.

Main Points Discussed in this Lecture 1.Pathogenesis transeverse). 2.Differences between microstomia & macrostomia. 3.Etiology & clinical features of facial hemiatrophy & facial hemihypertrophy. 4.Etiology & clinical features for 6 syndromes: Treacher Collins syndrome- Pierre Robin Syndrome- Peutz-Jeghers syndrome- Gardner’s syndrome- Down syndrome- Oxycephaly. Session ID34