Learn: INBDE Developmental Disorders

Achondroplasia

Dwarfism; limited range of motion at the elbows; macrocephaly; short fingers; normal intelligence.

Ankyloglossia

"Tongue-tie"; short lingual frenulum restricts tongue movement, potentially affecting oral function, jaw development, and speech; treatment is a frenectomy.

Apert syndrome

Craniosynostosis (early closure of cranial sutures); syndactyly (fusion of the fingers and toes); acrocephaly (tall skull).

Cherubism

Autosomal dominant genetic disorder that typically regresses after puberty; multilocular, bilateral, radiolucent ("soap bubble") lesions in the jaws; bilateral swelling of the jaws and cheeks; lesions are histologically identical to those of a central giant cell granuloma.

Cleidocranial dysplasia

Underdeveloped or absent clavicles; supernumerary teeth; delayed eruption of permanent teeth; maxillary hypoplasia, hypertelorism, frontal bossing, hypoplastic clavicles.

Cleft lip/palate

Cleft lip (failure of maxillary and medial nasal processes to fuse, ~4-7 weeks); cleft palate (failure of palatal shelves to fuse, ~8-12 weeks); higher frequency in Pierre Robin sequence, Treacher Collins, fetal alcohol syndrome, cleidocranial dysplasia, and nevoid basal cell carcinoma; multifactorial causes; classifications include CL, CP, CLA, CLP; treatment spans from orthopedics in infancy to prosthodontics in adulthood.

Crouzon syndrome

Genetic disorder characterized by craniosynostosis, particularly early fusion of the midface; brachycephaly (short skull); midface deficiency/hypoplasia; frontal bossing; hypertelorism; proptosis/exophthalmos (bulging eyes).

Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome)

Odontogenic keratocysts (OKCs); multiple basal cell carcinomas; palmar or plantar pits; calcification of the falx cerebri; bifid ribs.

McCune-Albright syndrome

Café-au-lait macules; polyostotic fibrous dysplasia; endocrine abnormalities.

Pierre Robin sequence

Micrognathia (typically resolves with growth); glossoptosis (posterior tongue displacement); airway obstruction.

Treacher Collins syndrome (mandibulofacial dysostosis)

Zygomatic hypoplasia; underdeveloped mandible; microtia (small, malformed ears); downward slanting eyes.

Down syndrome (Trisomy 21)

Extra copy of chromosome 21; most common chromosomal abnormality; may have atlantoaxial instability causing abnormal gait and hand tingling; cardiac defects (most common is atrioventricular septal defect); oral manifestations include increased periodontal disease risk, taurodontism, hypodontia, delayed eruption, and macroglossia.

Ectodermal dysplasia

Inherited developmental disorder affecting ectodermal tissues (skin, hair, nails, teeth, sweat glands, mucous membranes); conical-shaped teeth; dry eyes and wrinkly skin; requires multidisciplinary care; prototypical triad of hypohidrosis, hypotrichosis, and hypodontia.

Gardner syndrome

Polyps in colon; multiple osteomas and odontomas; cotton-wool appearance of the jaws; supernumerary or impacted teeth.

Papillon-Lefèvre syndrome

Palmoplantar hyperkeratosis; scaly skin lesions; severe periodontal disease resulting in early loss of both primary and permanent dentitions.

Tetracycline staining

Occurs due to tetracycline exposure during tooth development and calcification; staining appears as yellow, brown, or gray bands; not recommended for children under age 8 or during pregnancy.

Turner hypoplasia

Localized enamel hypoplasia of a permanent successor tooth usually caused by local trauma or infection of a primary tooth.

Fetal alcohol syndrome

Craniofacial abnormalities from maternal alcohol consumption during pregnancy; central nervous system impairment; midface deficiency; cleft lip; microcephaly.

Benign migratory glossitis (geographic tongue)

Benign condition resulting in atrophy of filiform papillae; erythematous patches on the tongue's surface with leukoplakic borders that appear to shift/migrate; unknown etiology, but can be related to nutritional deficiencies, stress, allergies, hormonal imbalances, etc.

Hemangioma

Benign vascular tumor, often manifesting as a purple or blue lesion that can vary in size and may require treatment if symptomatic; significant bleeding risk if excised.

Lingual varix

Dilated veins on the underside of the tongue, typically manifesting as blue or purple swellings; blanches on compression.

Pleomorphic adenoma

Most common benign salivary gland tumor; most commonly affects the parotid and minor salivary glands on the palate.

Ranula

Type of mucocele caused by blockage of the sublingual salivary gland, usually due to trauma; blue, dome-like, fluctuant swelling on the floor of the mouth.

Schwannoma

Benign tumor arising from the Schwann cells of the nerve sheath; may occur in the oral cavity on the tongue, palate, and floor of the mouth; usually asymptomatic but larger lesions can cause discomfort or paraesthesia; biopsy reveals Verocay bodies in Antoni A areas.

Epithelial dysplasia

Precancerous condition; biopsy reveals abnormal maturation of epithelial cells; typically manifests as white, red, or mixed white and red patches.

Adenoid cystic carcinoma

Malignant salivary gland tumor that can manifest as a painful mass in the oral cavity; histology reveals cells arranged in a cribriform/swiss cheese pattern.

Melanoma

Malignant neoplasm of melanocytes; oral cavity features a black-brown patch and may be associated with chronic irritation or tobacco use; skin lesions commonly associated with chronic actinic damage; oral ones have a poorer prognosis than cutaneous ones.

Mucoepidermoid carcinoma

Most common salivary gland malignancy; majority are a painless, slow-growing, ulcerated mass; common site is the parotid gland.

Squamous cell carcinoma

Most common malignancy in the oral cavity; exhibits surface ulceration or nodularity and is indurated upon palpation; common locations include the lateral and ventral tongue, floor of the mouth, and anterior soft palate; risk factors include 45+ years old, smoking or alcohol history, and HPV-16 or HPV-18 infection.

Alveolar osteitis (dry socket)

Painful condition following tooth extraction, characterized by the loss of the blood clot and exposure of the underlying bone; risk factors include poor oral hygiene, recent history of pericoronitis, older age, length and ease of extraction, oral contraceptives, smoking, and drinking through straws.

Epulis fissuratum

Fibrous hyperplasia that develops due to the flanges of ill-fitting dentures; presents as a fissuring mass of the gingiva or alveolar mucosa.

Hematoma

Localized collection of blood outside of blood vessels, manifesting as a purple or bluish swelling in the oral cavity due to trauma; commonly referred to as a bruise.

Inflammatory papillary hyperplasia

Benign epithelial proliferation that develops on the hard palate beneath a maxillary denture base; may be associated with candidiasis.

Nicotinic stomatitis

Benign, reactive hyperkeratosis caused by the heat of cigarettes; represents damage to minor salivary glands of the palate; manifests as gray or white papules with red dots in the center; also referred to as smoker's palate.

Peripheral giant cell granuloma

Benign reactive lesion appearing as a red, reddish-blue, or purple nodular mass; histology reveals abundant multinucleated giant cells; occurs exclusively on the gingiva or the edentulous alveolar ridge.

Peripheral ossifying fibroma

Benign reactive fibrous hyperplasia with calcified connective tissue; large, red or pink mass on the alveolar process; frequently associated with local irritation or trauma; biopsy contains mineralized products.

Pyogenic granuloma

Benign exuberant, reactive hyperplasia of granulation tissue; painless, raised, red, raspberry-like mass; ulcerated and highly vascular, may bleed spontaneously; can arise during periods of hormonal flux such as pregnancy.

Traumatic fibroma

Reactive, benign fibrous hyperplasia associated with trauma; raised, soft/firm mucosal nodule; buccal mucosa is a common site due to cheek biting.

Traumatic ulcer

Ulceration caused by direct physical injury to oral mucosa; common locations include the tongue, lips, and buccal mucosa.

Candidiasis

Opportunistic fungal infection caused by Candida albicans. Predisposing factors include immunosuppression, antibiotic or steroid use, denture use, xerostomia, and diabetes mellitus. Types include pseudomembranous (thrush), erythematous, angular cheilitis, and median rhomboid glossitis.

Primary herpes simplex virus

Manifests in the oral cavity as primary herpetic gingivostomatitis with pain, fever, and clustered vesicular ulcerative lesions on both keratinized and nonkeratinized tissue.

Reactivated herpes simplex virus

Manifests in the oral cavity as herpes labialis or intraoral herpetic ulcers with clustered vesicular ulcerative lesions only on keratinized surfaces.

Primary varicella-zoster virus

Manifests as chicken pox with fever, pruritus, and a widespread maculopapular rash.

Reactivated varicella-zoster virus

Manifests along the dermatome as shingles with pain, vesicular ulcerative lesions, neuralgia, not progressing past midline. Ramsay Hunt syndrome is a neurological syndrome induced by reactivation causing facial paralysis, loss of taste, dry eyes, xerostomia, and ear pain.

Epstein-Barr virus (HHV-4)

Can manifest as oral hairy leukoplakia with white, non-wipeable lesions of the lateral tongue in HIV/AIDS, mononucleosis in teens and young adults, and is associated with nasopharyngeal carcinoma.

Kaposi sarcoma (HHV-8)

Rare complication of HIV/AIDS initially manifesting as purple, red, or brown spots on the hard palate, gingiva, or tongue that resemble bruises and later develop a nodular appearance.

Human papillomavirus (HPV)

Oncogenic virus with exophytic, pedunculated warts and a cauliflower-like appearance. Benign strains include 2, 4, 6, 11; malignant strains 16 and 18 are associated with oropharyngeal and cervical cancer.

Syphilis

Caused by Treponema pallidum. Congenital __ features Hutchinson's incisors and mulberry molars. Primary features a chancre; secondary features oral mucous patches, condyloma latum, and rash; tertiary features gumma and CNS/cardiovascular involvement.

Coxsackie virus

More common in children than adults, it causes hand, foot, and mouth disease and herpangina (blister-like oral lesions on the soft palate or tonsillar pillars).

Aphthous ulcer

Also referred to as a canker sore; yellow-white, round ulceration exclusive to nonkeratinized tissue. Classified as minor, major, or herpetiform, and associated with Behcet's disease and Crohn's disease.

Erythema multiforme

Hypersensitivity reaction that can manifest as ulcerated lesions, negative Nikolsky sign, target lesions (circular red patches occurring in rings), and crusting lips.

Lichen planus

Immune-mediated mucocutaneous disease causing basal cell cytolysis. Reticular form features lacy, white non-wipeable Wickham striae; erosive form features erythematous and ulcerated lesions. Symptomatic management includes dexamethasone rinse.

Mucous membrane pemphigoid

Immune-mediated mucocutaneous disease causing hemidesmosome destruction with erythematous, sloughing gingiva and mucosa. Requires referral to ophthalmology for possible conjunctiva involvement and sometimes a positive Nikolsky sign.

Pemphigus vulgaris

Immune-mediated mucocutaneous disease causing desmosome destruction with painful, bleeding erosions of the gingiva and mucosa. Requires referral to dermatology and is often associated with a positive Nikolsky sign.

Bohn's nodule

Small, painless white cystic lesions that can be present on the gingiva of a newborn; Typically represent retained epithelial salivary gland remnants; Typically resolves without intervention

Epstein pearls

Small, white cysts found along the midline of the palate in newborns; Typically resolves without intervention

Eruption cyst

Blue or translucent cyst that forms over an erupting tooth; Self-limiting, will disappear once tooth erupts

Lymphoepithelial cyst

Benign cyst often found on the floor of the mouth or lateral borders of the tongue; Manifests as a soft, fluctuant swelling

Mucocele

Harmless clear, bluish or pink, fluid-filled, fluctuant swelling; Caused by traumatic injury to minor salivary glands; Most commonly on the lower lip

Amelogenesis imperfecta

Developmental disturbance that causes abnormal enamel formation; Teeth can appear yellow-brown or opaque white

Dentinogenesis imperfecta

Developmental disturbance that causes abnormal dentin formation; Teeth easily fracture and can appear discolored (blue-gray or yellow-brown), translucent, and highly worn; Crowns appear bulbous with cervical constriction and obliterated pulp chamber; Type I: Osteogenesis imperfecta (brittle bones and blue sclera) with opalescent teeth

Dentin dysplasia

A developmental disturbance that causes abnormal dentin and pulpal morphology; Type I (radicular): Short roots or "rootless teeth", obliterated pulp chamber or chevron-shaped remnant, affects primary and permanent dentitions; Type II (coronal): Normal roots, enlarged or thistle tube-shaped pulp chambers, pulp stones, primary dentition may appear discolored with obliterated pulp

Concrescence

Union of adjacent teeth at the level of cementum; Enamel, dentin, and pulp are not involved; Occurs most frequently in maxillary molars

Dens invaginatus (dens in dente)

Invagination or infolding of the tooth surface before calcification; "Tooth within a tooth"; Occurs most frequently in maxillary lateral incisors; Communication directly to the pulp may result in pulpal necrosis and apical periodontitis

Dens evaginatus

Outward folding of the tooth surface before calcification; Forms a small, extra cusp; Occurs most frequently in mandibular premolars; Pulp horns extending into enamel may result in pulpal necrosis and apical periodontitis

Enamel pearl

Small, round nodule of ectopic enamel most commonly on the root surface; Occurs most frequently at the furcation point between maxillary molar roots

Fusion

Fusion of two teeth at the dentin and pulp; One fewer total teeth; Two separate pulp chambers; Occurs most frequently in mandibular lateral incisors and canines

Gemination

Attempt of one tooth bud to become two separate teeth; Normal tooth count; Single root and pulp chamber; Occurs most frequently in incisors; More common in primary teeth, equal gender prevalence; Evidence suggests a hereditary component

Regional odontodysplasia

Non-hereditary abnormality of dental hard tissues in a localized region or quadrant; Poor mineralization of dentin and enamel ("ghost teeth"); Short roots, open apices, and enlarged pulp chambers

Taurodontism

Elongation of the pulp chamber due to apical migration of the furcation; Mostly occurs in permanent molars; Can occur in patients with amelogenesis imperfecta and Down syndrome