Syndromes of oral and maxillofacial regions

Syndromes

1. Syndrome associated affecting Teeth 3/20/2019

2. Introduction It is due to single pleiotropic gene Has an autosomal dominant pattern of inheritance Multiple impacted supernumerary teeth are present. 3/20/2019

3. Gardner’s Syndrome 3/20/2019

4. Syndrome consists of: Multiple polyposis of large intestine ( Polyposis:Multiple polyps. i.e. A small growth protruding from mucous membrane) Osteomas of bone,including long bones,skull and jaws. 3/20/2019

5. 3/20/2019 3. Multiple epidermoid or sebaceous cysts of skin (scalp and back )

6. 3/20/2019 4. Impacted supernumerary and permanent teeth ( supernumerary tooth= Additional tooth to the normal set of teeth.)

7. Why this syndrome is of interest to dental profession? Impacted teeth and osteomas of jaw may lead to early diagnosis of Gardner‘s syndrome. 3/20/2019

8. Fanconi‘s syndrome 3/20/2019

9. It is inherited disorder of childhood characterized by 1.Cutaneous pigmentation 85% of cases Generalized dusky or olive brown pigmentation ( Lower trunk and neck) 2. Skeletal changes Short and broad hands Tapering fingers Absence of thumbs Aplasia of radius Microcephaly 3 . Haematological abnormalities Progressive hypoplastic anemia Neutropenia Thrombocytopenia 4 . Mental retardation 5. Hypogonadism. 3/20/2019

10. Dental changes Enamel hypoplasia 3/20/2019

11. Nevoid Basal Cell Carcinoma syndrome ( Gorlin syndrome) 3/20/2019

12. Introduction Other names It is an autosomal dominant inherited condition Caused by mutation in patched (PTCH) a tumor suppressor gene. 3/20/2019

13. Clinical Features 50% of cases Multiple basal cell carcinomas Odontogenic Keratocysts (OKCs) Epidermal cysts of skin Palmar / Plantar pits Enlarged head circumference Rib anomalies ( fused, bifid or partially missing) Mild ocular hypertelorism 3/20/2019

14. 15% to 49% of cases Calcified ovarian fibromas Vertebral anomalies Pectus excavatum Or carinatum 3/20/2019

15. Histopathology of odontogenic keratocyst 3/20/2019

16. 3/20/2019

17. Treatment 1 . Avoid sunlight As basal cell carcinomas get triggered by ultraviolet (UV) light Same reason = radiation therapy is contraindicated 2. Jaw cysts are treated in same manner as isolated OKCs 3/20/2019

18. Why this syndrome is of interest to dental profession? Development of OKCs is most common clinical feature Which may lead to early diagnosis of Nevoid basal cell carcinoma syndrome. 3/20/2019

19. Rubenstein Taybi Syndrome 3/20/2019

20. Clinical features Short stature Mental retardation Heavy and highly arched eyebrows Hypertelorism Scoliosis 3/20/2019

21. Oral manifestations Supernumerary tooth ( mesiodens) 2. Extra cusp 3. High arched and narrow palate 4. Wide alveolar ridges 3/20/2019

22. Syndrome associated with Tongue 3/20/2019

23. Hurler syndrome 3/20/2019

24. Introduction Abnormality in chromosome arm 4p16.3 Disturbance of mucoploysaccharide metabolism (excretion level in urine elevated) Disease becomes apparent in 1 st 2 years Progresses = early childhood and adolescence Terminates = in death = before puberty 3/20/2019

25. Clinical features 1] Facial characteristics 1.prominent forehead 2.wide nostrils 3. Broad saddle nose 4. Hypertelorism 5. Puffy eyelids with bushy eyebrows 6. Thick lips 7. Large tongue 8. Open mouth 9. Nasal congestion with noisy breathing 3/20/2019

26. 2] Claw hand 3] Mental retardation 3/20/2019

27. Oral manifestations Shortening and broadening of mandible Teeth spacing Gingival hyperasia due to poor oral hygiene or mouth breathing Tongue: enlarged 3/20/2019

28. Treatment No treatment 3/20/2019

29. Burning mouth syndrome 3/20/2019

30. Etiology Local causes: Dry mouth ( xerostomia) Trauma to oral mucosa ( ill fitting dentures) Geographic tongue, lichen planus Repitative oral habits ( tongue thrusting) Gastroesophageal reflux disease 3/20/2019

31. Systemic causes : Vitamin B 12 / Folate / Iron deficiency Immunologically mediated ( Sjogren’s syndrome) Menopause. 3/20/2019

32. Treatment Removal of etiology Vitamins or dietary supplements Analgesic sprays / mouthwash ( benzydamine hydrochloride) Saliva substitutes for dry mouth Antidepressant 3/20/2019

33. Clinical features Burning / stinging of mucosa ,lips and tongue. 50% of BMS patients are associated with DRY MOUTH Increased thirst Altered taste sensation - taste perception reduced - persistent unusual taste = bitter/ metallic 5. Drinking/ eating temporarily reduce severity of symptoms 6. associated with anxiety/ depression. 3/20/2019

34. Orofacial digital syndrome 3/20/2019

35. Orofacial digital syndrome. Type 1 It is inherited as X linked dominant trait Females are affected Lethal for males 3/20/2019

36. Clinical features Syndactyly = fingers united Bracydactyly = short fingers/ toes 3/20/2019

37. 3. Polydactyly = more than 5 fingers/ toes 4. Small nostril 5. Clinical features associated with tongue Tongue with hamartoma Tongue with cleft 3/20/2019

38. Orofacial digital syndrome. Type 2 ( Mohr syndrome) It is an Autosomal Ressesive disorder CLINICAL FEATURES Moderately short individual Digital deformities like syndacyly, polydacyly, bracydacyly Broad and bifid nose tip 3/20/2019

39. Oral manifestations Lobate TONGUE. 2.High arched palate 3/20/2019

40. 3/20/2019 3. Hypoplastic body of mandible 4. Mandubular incisors = absent Note : type 2 resembles type 1 = occurs in females = X linked

41. Beckwith Wiedemann syndrome 3/20/2019

42. Clinical features Omphalocele Hypertropy of various organs Gigantism Other problems: Hurler syndrome Mucopolysaccharidosis 3/20/2019

43. Oral manifestations Enlarged Tongue 3/20/2019

44. Thank You 3/20/2019