Chapter 6 Developmental Disturbances of the Face & Jaws
it may be useful to learn some terms & definitions : 1- Congenital : Congenital malformations are anatomical or structural abnormalities that are present at birth , though they may not be diagnosed until later. 2- Hereditary : Transmitted from ancestors or parents to a child. 3- Genetic : Transmitted through genes , same as hereditary. 4- Autosomal : A trait transmitted by a gene carried on an autosome ( any member of the 22 paired chromosomes other than X & the Y sex chromosomes. 5- Sex- lined : A trait transmitted by a gene carried on one of the sex chromosomes. 6- Developmental : belonging to the process of development ; a condition or disease caused by some error in the process of development. 7- Acquired : A condition , habit or other characteristics which is not present at birth , but which developed in the individual by reaction to environment .
Teratogen: Any agent which capable of causing abnormal development prior to birth; it may be one of the following items: 1- Mutagenic agents. 2- Nutritional imbalance. 3- Temperature extremes. 4- radiation of various types. 5- Infectious agents. 6- Environmental chemicals & pollution. 7- Maternal metabolic disorder.
Developmental Disturbances of the face 1- Oblique facial cleft : - A congenital developmental cleft. - It runs from inner canthus of the eyes to the ala of the nose or upper lip , along the path of the naso - lacrimal duct ; due to failure of fusion between maxillary & lateral nasal processes ( frontal). 2- Transverse facial cleft: - A congenital development cleft. - It runs from the angle of mouth to the ear - It is due failure of fusion between the maxillary & mandibular processes. 3- Macro & Micro – Stomia : i- Macro – stomia : means abnormal large mouth, & is due to premature arrest of fusion between the maxillary & mandibular processes . ii- Micro – stomia : means abnormal small mouth, & is due to excessive union between the maxillary & mandibular processes.
Translocation (1;22) in a child with bilateral oblique facial clefts. An eight month old girl was born with symmetrical bilateral oblique facial clefts and calcaneovarus foot deformity. CT scan of the head showed severe bilateral ocular hypoplasia and normal brain parenchyma. Peripheral blood karyotype showed a de novo balanced translocation between a chromosome 1 and 22. A submicroscopic imbalance secondary to this translocation cannot be ruled out. The pattern of the observed anomalies will help distinguish between oblique facial clefts and amniotic band disruption. Chromosomal studies should be performed in children with such rare malformations.
development disturbances of the jaws 1- Agnathia : congenital absence of jaw , classified into : I- complete agnathia : absence of the maxilla or the mandible. II- Partial agnathia : absence of a part of one jaw as follows : 1- in the maxilla :- absence of one maxillary process - absence of the premaxilla 2- in the mandible: - Unilateral or bilateral absence of the condyle. - Unilateral or bilateral absence of the ramus. - Absence of one mandibular process. - Unilateral absence of the ramus usually accompanied by deformity of the pinna of the ear on the affected side. 2- Microagnathia : abnormal small jaw, classified into : i- relative microagnathia : The retrusion of the jaw is due to abnormal ( post-normal) relationship of the jaw to the base of the skull. ii- True microagnathia : the jaw is smaller than normal , & it is divided into : 1- Congenital true microagnathia : usually hereditary
2- Acquired true microagnathia : it is due to environmental factors as infection or trauma or irradiation , which disturb the growth centers of the jaw. 3- Macroagnathia : It means abnormal large jaw. It is classified into : I- Relative macrognathia : the protrusion of the jaw is due to abnormal ( antero – normal) relationship of the jaw to the base of the skull , & normal of the jaw but small teeth. II- True macrognathia : jaw is larger than normal , & it is divided into : 1- Congenital true macrognathia : it is due to hereditary factors. 2- Acquired true macrognathia : it is due to bone diseases as Paget,s disease of bone , or hormonal imbalance as acromegaly , or other factors. Pierre Robin syndrome ( Mandibular dysostosis with glossoptosis) it is example of micrognathia, it is a syndrome characterized by : 1- Hypoplasia of the mandible . 2- Falling back of the tongue until it rests on the posterior wall of the pharynx obstructing the laryngeal inlet & causing cyanosis & asphyxia. 3- Cleft palate 4- External ear defect 5- Bifid tongue
- The mandible may be smaller than normal or normal size but the gonial angle at a right angle or less in contrast to the normal obtus angle of new born infant. Some cases show micrognathia of the mandible with a shoulder impression extending from the body of the mandible to the mastoid region. - This syndrome is due to : 1- I.U. foetal malposition, the fetal body weight may be forced on the vertex. 2- So there is a back pressure on the mandible caused by the forceful contact with the sternum before calcification of the mandible 3- So the mandible is smaller than normal or has a right angle or less than it. 4- The tongue fails to descend & interfers with the meeting & fusion of the palatine processes causing cleft palate. 5- It is not hereditary.
Developmental disturbances of the lips Cleft lip : cleft lip is classified into : 1) congenital clefts 2) Acquired clefts 1) Congenital cleft lip : It is developmental malformation ( present at birth of lip ) Etiology : 1- Hereditary 2- Defective blood supply to the area of cleft. 3- Mechanical interference as tongue 4- infection as rubella ( German measles) of pregnant mother. 5- Vitamin deficiency as vitamin B, A 6- Protein deficiency 7- Hormonal disturbances ( cortisone , diabetes mellitus) . 8- Deficient neural crest cell migration to the mid facial region i.e. the mesenchyme of the mid facial region is of neural crest origin. 9- Maternal diseases & defects , uterine tumours or inflammation , age , emotional disturbances. 10- Teratogenic factors as hypervitaminosis A 11- I.U. foetal malposition as in Pierre Robin syndrome.
Bifid Uvula Cleft Palate Submucosal cleft of the palate
Clinical features : The lesion may range from simple notch of the lower border of the lip to a broad cleft extending from the lower border of the lip to floor of the nose . 1- Upper lip unilateral a) incomplete b) Complete Bilateral a) Incomplete b) complete C) Mixed. In case of complete bilateral cleft lip the prolabium ( globular process) is small , devoid of muscles & shows no filtrum & is isolated. 2- Lower lip : Median cleft of lower lip : complete & incomplete Pathogenesis of cleft lip : 1) It was thought to be due to failure of union between globular & maxillary process ( old theory). 2) Now it is due to failure of the mesodermal masses to grow & penetrate the ectodermal grooves & obliterate them . The upper lip is formed of two maxillary processes & globular process, while the lower lip is formed of two mandibular processes.
2- Congenital lip pits & fistula Lip pits are congenital blind , epithelial – lined depression . Lip fistulas are congenital epithelial – lined depressions , connected with minor salivary glands , & shows secretions. Etiology : 1- Hereditary ( incomplete) expressions of the genetic trial responsible for cleft lip. 2- Notching of the lip at early stage of it is development , with fixation of the tissues at the base of the notch. 3- Incomplete union between processes Clinical features : Common sites : lower lip more than upper lip - On vermillion border - unilateral or bilateral -Near the mid-line or oral corners - Often , they are associated with other developmental anomalies such cleft lip & / or cleft palate.
Paramedian lip pits Paramedian Lip Pits
3- Cheilitis glandularis apostomatosa : Definition : It is uncommon condition in which the lip is enlarged. Aetiology : Unknown but may be due to : - chronic exposure to sun , wind & dust. - Allergic phenomena . - Use of tobacco - Hereditary factor Clinical features: Age : young adults , Sex : males more than female , site : lower lip Character : The lip is enlarged , firm , everted exposing it is mucosal surface to the sun , so the minor labial mucous glands become nodular & the orifices of their ducts become inflammed & dilated giving the labial mucosa a red macular appearance.
4- Cheilitis granulomatosa Definition : It is a condition in the lip ; characterized by presence of chronic soft swelling in the upper lip. Etiology : Unknown but may be due to sarcoidosis. Clinical features : age: young adults , sex : equal , sex : upper lip Characters : soft enlarged lip , tongue may be enlarged. Melkerson Rosenthal Syndrome: 1- Cheilitis granulomatosa 2- Facial paralysis 3- Fissured tongue Histopathology of cheilitis granulomatosa : 1- Scattered granulomas contain: i ) some epithelioid cells. ii) Few Langhan,s giant cells. iii) Chronic inflammatory cell infiltration 2- The histologic picture is similar to sarcoidosis which may be the cause of the lesion
Peutz - Jegher,s syndrome: It is hereditary malformations. Clinical features : 1- Generalized intestinal benign polyps ( in small intestine). 2- These polyps cause mechanical obstruction , resulting in attacks of abdominal pain . These polyps are hamartoma ( polyps are projections of mucous membrane). 3- Spots of melanin pigmentation i) Around the mouth , nostrils & eyes. ii) On the oral mucosa ( buccal mucosa , lip , gingiva , & palate) iii) On the skin of the dorsal surface of hands & feet.
Peutz-Jehgers syndrome. There are multiple flat, pigmented patches on the palate. Those on the lips are most characteristic but fade with age.
Gardner,s syndrome (familial adenomatous polyposis) It is hereditary malformations , It is inherited as an autosomal dominant trait , caused by mutations in the APC tumour suppressor gene, but only some patients develop the extra-colonic manifestations such as the dental anomalies. Clinical features : 1- Multiple polyps in large intestine , specially the descending colon & rectum , & show tendency for malignant changes. 2- Multiple osteomata & fibromata of the skull , jaw bones & oral mucosa 3- Multiple epidermal or sebaceous cysts. 4- Multiple supernumerary & impacted permanent teeth.
Developmental disturbances of the palate 1- Cleft palate Etiology : as in cleft lip. Classification of cleft palate : I) pre-alveolar cleft ( occur in lip) . II) Alveolar cleft ( alveolus). III) Post – alveolar ( palate). All combination may be found. The union of the various embryonic processes that form the upper lip & palate starts in the region of incisive foramen & proceeds forwards into the lip & backwards into palate. II) Alveolar cleft : Unilateral - bilateral Clefts of the alveolus pass through the region of the upper lateral incisor which may be absent, may develop medial to or lateral to the cleft or may be doubled. III) Post-alveolar cleft ( palate) : 1- Cleft uvula 2- Cleft uvula & soft palate.
3- Cleft uvula , soft palate & hard palate & may reach the incisive. Complete unilateral cleft : Extends from the uvula to the incisive foramen in the midline then deviating to one side & meets the alveolar process in the area of the lateral incisor & then into the lip. Complete bilateral cleft : Extends from the uvula to the incisive foramen then extend forward bilaterally from the incisive foramen to the alveolus & lip. Acquired cleft palate : It occurs after birth. Aetiology : For example : 1) Gun shot 2) Sharp instrument 3) Syphilitic gumma
2- Torus palatinus It is a developmental malformation of the hard palate, often , it is hereditary. Clinical features : It appears as 1- single or multiple bony swelling at the midline of the hard palate. 2- Fusiform , lobular , or nodular in shape. 3- Covered by normal stretched mucosa. Histological features : It consists of 1- Compact bone only or 2- Core of cancellous bone covered by a layer of compact bone.
Torus palatinus . Palatal tori range from small smooth elevations to lobular swellings such as this. The bone is covered by only a thin mucosa which is prone to trauma. Torus Mandibularis: This is a hard bony growth on each side of the mandible (jaw bone). It is a benign growing and seldom needs treatment -- see arrows. Torus palatinus at the midline of the hard palate.
Developmental disturbances of the tongue 1- Aglossia -It means congenital absence of the tongue - It is due to failure of the development of the anterior two thirds of the tongue from the ventro – medial surface of the first arch. - It disturb the speech , mastication & swallowing. - The tuberculum impar may develop in the place of the normal tongue & improves the speech. 2- Microglossia : - It means abnormal small tongue 3- Macroglossia : It means abnormal large tongue. Types : I) Congenital macroglossia : Etiology : 1- Cretinism ( congenital malformation) 2- Monogolism
3- Lymphangioma or hemangioma 4- Congenital arterio – venous shunt ( connection between the lingual artery & vein) 5- Fibrous & muscular hypertrophy. II) Acquired : Macroglossia : Etiology : 1- Myxoedema ( adult hypothyroidism) 2- Acromegaly ( adult hyperpituitrism) 3- Blockage of the lingual lymphatic vessels as in malignant neoplasm or infection. 4- Primary & secondary amyloidosis. 5- Tumours as papilloma , fibroma, carcinoma , or sarcoma 6- Chronic granulomas as actinomycosis , syphilis , or T.B. Clinical features : Enlarged tongue , displacement & spacing of teeth & malocclusion Scalloping of borders of the tongue , because they are compressed against the teeth & interdental spaces.
4- Ankyloglossia ( Tongue Tie) It is a developmental malformation , resulting in the tongue movements are restrained. Types : 1- True ( complete ) ankyloglossia : it is due to failure of separation of the tongue from the floor of the mouth. 2- Partial ankyloglossia ( commonest type) i) Abnormal short lingual frenum , or ii) The lingual frenum attached to the tip of the tongue 3- Superior ankyloglossia : Always , it is associated with cleft palate. It is due to the dorsal surface of the tongue is connected by a membrane to one side of the palate. 4- Aquired ankyloglossia : It may be due to infection , malignant neoplasm , or irradiation. Hypermobility of the tongue : it is due to abnormal ling lingual frenum.
This is the tongue of another patient with severe ankyloglossia and inability to protrude the tongue Tongue-tie is a condition caused by a short lingual frenulum that prevents the tongue from protruding. Occasionally, it could interfere with breast feeding.
5- Cleft tongue ( Bifid tongue) It is a developmental congenital malformation in which a complete or partial cleft or fissure of the tongue is present running antero – posteriorly from the tip to the backwards. It is classified into : 1- Complete cleft tongue ( bifid tongue) .It is due to failure of fusion between the two halves of the anterior two thirds of the tongue. 2- Partial cleft tongue : It appears as a deep groove in the midline of the dorsal surface of the anterior two thirds of the tongue . It is due to incomplete fusion between the two halves of the anterior two thirds of the tongue.
Scrotal Tongue is also called fissured tongue or lingua plicata. It is a familial, but not always a congenital condition. The fissures are of variable depth and usually extend laterally from a median groove. It is an asymptomatic condition, unless food particles and debris lodging in the depths of the fissures cause a mild glossitis.
6- Fissured tongue ( lingua plicata , scrotal tongue ): The tongue having on it is dorsal surface ( of anterior , 2/3 rds) in addition to the normal median raphe , symmetrical or semi-symmetrical grooves , or fissures. Etiology : frequently , it is congenital , but because it increase with age , it may be acquired due to : 1- Chronic trauma 2- Vitamin deficiency 3- Tobacco smoking 4- psychological stress 5- Infection as syphilis Clinical features : The fissures are depapillated . The fissures are classified according to their arrangement into : 1- Transverse 2- Cerebriform 3- Foliaceous 4- Irregular Histological features : The fissures are depapillated , & show : 1- Hyperplastic epithelium . 2- Subepithelial chronic inflammatory cell infiltration , ( lymphocytes & plasma cells) . It may be associated with Melkerson Rosenthal syndrome.
Median Rhomboid Glossities : It is a developmental malformation due to failure of the tuberculum impar to retract or withdraw before fusion of the two halves of the anterior 2/3 rds of the tongue Clinical features : It occurs on the dorsal surface of the tongue , just anterior to the foramen caecum & circum-vallate papillae. It appears as swelling which is : i) painless ii) reddish iii) round , ovoid or rhomboidal iv) Raised. Sometimes . It may be misdiagnosed clinically as a carcinoma of the tongue. Histological features : It is depapillated & shows : 1- Hyperplastic epithelium 2- Subepithelium lymphocytic infiltration & vasodilatation.
Median rhomboid glossitis. There is hyperplasia with elongated rete processes, hyperparakeratosis and an inflammatory infiltrate of lymphocytes and plasma cells in the connective tissue. There are no signs of candidal infection.
8- Geographic tongue ( glossitis areata exfoliativa , erthema migrans , benign migratory glossitis) It is of unknown etiology or due to emotional stress. Clinical features : Common age : unhealthy children , sometimes older individuals especially women. Characters : The anterior 2/3 of the tongue show many small red patches characterized by : 1- Desquamation of the filiform papillae. 2- The fungiform are retained & appear red dots. 3- Each patch appears as a small red area round or oval in shape with a slightly elevated yellowish irregular border. 4- Grow slowly & coalesce , forming larger patches. 5- Each patch persists for about one week , then disappears only to reappear at another area. 6- The whole condition regress spontaneously & recur later.
• Histology: - ~ psoriasis - hyperkeratosis; epithelial spongiosis - neutrophils in epithelium - lymphocytes and neutrophils in connective tissue Histologic Findings Geographic tongue is described as a psoriasiform mucositis.16 At the periphery, elongation of the rete ridges is noted with associated hyperparakeratosis and acanthosis. Toward the center of the lesion, corresponding to the erythematous area clinically, loss of filiform papillae with migration and clustering of neutrophils within the epithelium (spongiform pustule) is seen. The predominant inflammatory infiltrate in the lamina propria is neutrophils with an admixture of chronic inflammatory cells. Geographic tongue
Erythema migrans. The edge of a lesion showing normal mucosa to the right, and to the left the epithelium densely infiltrated by neutrophils. This epithelium at the advancing edge will be shed, leaving the depapillated red patch. • Histology: - ~ psoriasis - hyperkeratosis; epithelial spongiosis - neutrophils in epithelium - lymphocytes and neutrophils in connective tissue
9- Hairy tongue It is a condition of unknown etiology in which there is extensive proliferation of filiform papillae. Etiology : 1- Unknown or due to 2- microorganisms – fungi 3- Systemic disturbances , anaemia & gastric upset 4- use of drugs as antibiotics , peroxides 5- Smoking Clinical features : -The anterior 2/3 of the tongue or a part of them , show elongated ( hypertrophic ) filiform papillae may be due to : - Actual hypertrophy of the papillae with ;lack of normal desquamation. - The elongated papillae acquired discoloration ranging from yellowish , to brown to black The discoloration is due to : Foods , drugs , chromogenic bacteria as aspergillus niger or yeasts.
Hairy tongue (lingua villosa) is a commonly observed condition of defective desquamation of the filiform papillae that results from a variety of precipitating factors. The condition most frequently is referred to as black hairy tongue (lingua villosa nigra); however, hairy tongue also may appear brown, white, green, pink, or any of a variety of hues depending on the specific etiology and secondary factors (ie, use of colored mouthwashes, breath mints, candies).
10) Thyroglossal tract cyst It is a developmental true cyst which is a pathological cavity lined by epithelial contain fluid or semi – fluid. Pathogenesis : It arises from proliferation & cystic degeneration of the epithelial remnant of the thyroglossal tract. Clinical features : It appears as a slowly growing swelling occurs in the midline , & classified into : 1- Supra-hyoid cyst which occurs in the floor of mouth , or the tongue. 2- infra hyoid cyst which occurs in the midline of the neck & moves upwards downwards during swallowing. Sometimes , it ruptures forming a fistula with overlying skin or mucosa. Histologic features : It shows 1- It is epithelial lining is : stratified Sq.Epith. Or pseudostratified columnar ciliated epithelium. 2- C.T. wall ; collections of thyroid or lymphoid tissue in it is C.T. wall. 3- It is cavity contains mucoid fluid with cholesterol crystal.
11- Lingual thyroid nodule It is an ectopic thyroid tissue occurs in the tongue Pathogenesis : Deficient migration may occur at the area of foramen caecum & differentiation of the epithelial tract into thyroid tissue takes place while it still lies in the substance of the tongue . Clinical : It appears as a nodular mass ; occurs in the midline in the area of the foramen caecum , & covered by normal mucosa. ( by radioactive iodine 131 , we can discover whether the normal thyroid gland is present or not). Histological features : It consists of collection of thyroid tissue. One layer of cuboidal cells. Lumen ( acidophilic colloid). Complications : 1- Enlargement in cases of thyroid insufficiency ( goiter). 2- Adenoma or adenocarcinoma of thyroid type may develop in it. Patients with ectopic thyroid tissue should be carefully evaluated for the presence of other thyroid tissue before removal of the lingual thyroid.
Developmental disturbances of the oral mucosa 1- Fordyce,s granules : They are ectopic collections of sebaceous glands present in the oral mucosa. Pathogenesis : May result from inclusion of ectoderm in the oral cavity having some of the potentialities of skin in the course of development of the maxillary & mandibular processes during embryonic life. Clinical features : - Common site : Buccal mucosa opposite to molars , lips & anterior pillar of the fauces. -Small yellow spots , single or multiple separated or forming large plaque symmetrically located. - overlying mucosa : smooth level or slightly elevated. Histological features : They are consisting of sebaceous follicles ; - Sometimes lying free in the C.T. ( dermis) - Connected to the surface epithelium , directly or by a duct which may be blocked by keratin. They are not related to root of hair follicles.
Fordyce's spots. Clusters of creamy, slightly elevated papules on the buccal mucosa Fordyce's spots. Each spot is a histologically normal superficial sebaceous gland without a hair follicle
2- White spongy naevus ( familial white folded gingivo - stomatitis) : It is a hereditary , developmental malformation of the oral mucosa . Common site : Entire oral mucosa , buccal mucosa , floor of mouth & ventral surface of the tongue Clinical features : It appears as thick , soft , spongy , fissured , folded , greyish – white & diffuse areas. It reaches full severity at puberty , then remains static. Histopathology : It consists of : 1-Hyperkeratosis. 2- The prickle cell layer shows : i) acanthosis ii) inter- & intra – cellular edema , giving basket – weave appearance. iii) pyknotic nuclei 3- Intact basal layer , sub-epithelial chronic inflammatory cell infiltration.
White sponge naevus. The keratosis is irregular and folded and extends into areas which are not subject to friction White sponge nevus of the buccal mucosa. White sponge naevus. The epithelium is acanthotic and the 225 prickle cell layer is composed of large vacuolated cells.
3- Hereditary benign intra – epithelial dyskeratosis : It is a hereditary syndrome the oral mucosa , conjunctiva & sometimes the cornea Common site : Buccal & labial mucosa , floor of mouth & lateral borders of the tongue , conjunctiva & cornea. Clinical features : It resembles the white spongy nevus. Eye lesion : Corneal opacities ( white plaque) temporary blindness , conjunctiva is congested. Histopathology : It consists of : 1- Hyper-parakeratosis 2- The prickle cell layer shows : acanthosis , inter & intra cellular edema , giving basket – weave appearance , pyknotic nuclei , eosinophilic dyskeratotic cell , intact basal layer & subepithelial chronic inflammatory cell infiltration. 4- Bohn,s nodules : They are the gingival cysts of new born infants. They arise from proliferation & cystic degeneration of the remnants of dental lamina. They appear as small , discrete , whitish nodules on the gingiva of newborn infant.