Dev. Oral & Maxillofacial Conditions CHI PDF

Summary

This document discusses various oral and maxillofacial conditions, exploring their causes, including genetic and environmental influences. It categorizes conditions as syndromic or non-syndromic. The document also includes various figures, citations, and links to external resources.

Full Transcript

taking photos or video recording during this live class session is not permitted taking photos or video recording during this live class session is not permitted Syndromic or non-syndromic Genetic & environmental factors Increased risk: maternal EtOH, smoking, anticonvul...

taking photos or video recording during this live class session is not permitted taking photos or video recording during this live class session is not permitted Syndromic or non-syndromic Genetic & environmental factors Increased risk: maternal EtOH, smoking, anticonvulsants, retinoids, folate deficiency FIG 3_16 Nanci, Antonio. Ten Cate's Oral Histology. Available from: VitalSource Bookshelf, (9th Edition). Elsevier Health Sciences (US), 2021. FIG 3_17 Nanci, Antonio. Ten Cate's Oral Histology. Available from: VitalSource Bookshelf, (9th Edition). Elsevier Health Sciences (US), 2021. Kim, D.W., Chung, SW., Jung, HD. et al. Prenatal ultrasonographic diagnosis of cleft lip with or without cleft palate; pitfalls and considerations. Maxillofac Plast Shkoukani MA, Chen M and Vong A (2013) Cleft lip – a Reconstr Surg 37, 24 (2015). https://doi.org/10.1186/s40902-015-0019-z Creative comprehensive review. Front. Pediatr. 1:53. doi: Commons Attribution 4.0 International License 10.3389/fped.2013.00053 Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License (CC BY Kazi Md. et al, "Simultaneous Repair of Cleft Hard Palate by Vomer CLEFT LIP Flap along with Cleft Lip in Unilateral Complete Cleft Lip and Palate Patients", International Scholarly Research Notices, vol. 2013, Article ID 954576, 5 pages, 2013. https://doi.org/10.5402/2013/954576 unilateral>bilateral left>right CLEFT LIP W/CLEFT PALATE https://upload.wikimedia.org/wikipedia/commons/b/bf/Bifid_uvula.JPG Adam6611, Public domain, via Wikimedia Commons BIFID UVULA invaginations @ commissure failure of fusion of maxillary & mandibular processes https://elementsofmorphology.nih.gov/index.cgi?tid=039dd7f4bd054dc6 Smooth_O, CC BY-SA 3.0 , via Wikimedia Commons COMMISSURAL LIP PIT PREAURICULAR PIT congenital invaginations on lower lip near midline persistence of lateral sulci of embryonic mandibular arch Balasubramani S, Sankaran S, Madhavan A, Jayaraman S. A rare nonsyndromic presentation of bilateral doughnut shaped lip pits in an Indian child. Indian J Dent Res 2016;27:223-5 Creative Commons Attribution-NonCommercial-ShareAlike License (CC BY-NC-SA) Htun SY, Büto KW, Engelbrecht H, Honey E (2016) Interlink of Two Syndromes - Demarquay-van der Woude and Popliteal Pterygium in One Family Group. J Interdiscipl Med Dent Sci 4:188. doi:10.4172/2376-032X.1000188 Creative Commons Attribution 4.0 License Congenital > acquired developmental defect (2nd - 3rd mo. gestation) vs. trauma/habits E Association w/ ASCHER SYNDROME (etiology unknown, AD?): double lip, blepharocholasis (edema upper eyelid), nontoxic thyroid enlargement de Andrade Santos PP et al. Clinics 63 (5) 2008 https://doi.org/10.1590/S1807- 59322008000500022 https://creativecommons.org/licenses/by-nc/4.0/ Gupta V, Khandpur S. Blepharochalasis with double lip: A case of Ascher syndrome. Indian J Dermatol Venereol Leprol 2015;81:651 (CC-BY-NC-SA 4.0) sebaceous glands in oral mucosa normal anatomic variation (80% population) (not really “ectopic”) https://upload.wikimedia.org/wikipedia/commons/9/98/Fospot.jpg Perene, CC BY-SA 3.0 , via Wikimedia Commons Della Vella F, et al. Appl. Sci. 2019, 9(12), 2412; https://doi.org/10.3390/app9122412; Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). Rosebush MS, et al. (February 19th 2014). Normal Oral Cavity Findings and Variants of Normal, Diagnosis and Management of Oral Lesions and Conditions: A Resource Handbook for the Clinician, Cesar A. Migliorati and Fotinos S. Panagakos, IntechOpen, DOI: 10.5772/57597. Available from: https://www.intechopen.com/chapters/46198. Creative Commons Attribution 3.0 Unported License (CC BY 3.0) abnormally small tongue Manasa Anand Meundi, et al. "Oromandibular Limb Hypogenesis Syndrome Type IIB: Case Report of Hypoglossia-Hypodactyly", Case Reports in Dentistry, vol. 2013,. https://doi.org/10.1155/2013/370695 https://creativecommons.org/licenses/by/3.0/ https://elementsofmorphology.nih.gov/index.cgi?tid=e80 1e8c7a523ec7f Sangwatanakul J, et al. Surgical Treatment of Oromandibular Limb Hypogenesis Syndrome Type I A by Distraction Osteogenesis Combined With Orthodontic Rehabilitation. J Craniofac Surg. 2021;32(7):e655- e657. doi:10.1097/SCS.00000000 00007669 Creative Commons Attribution-Non Commercial-No Derivatives HYPODACTYLY AND HYPOMELIA Rasool, A., Zaroo, M.I., Wani, A.H. et al. Isolated aglossia in a six year old child presenting with impaired speech: a case report. Cases Journal 2, 7926 (2009). https://doi.org/10.4076/1757-1626-2-7926 Creative Commons Attribution License ( https://creativecommons.org/licenses/by/2.0 ) ISOLATED AGLOSSIA WITH MANDIBULAR HYPOPLASIA enlarged tongue congenital or acquired Box 1-1 Allen, Angela Chi, Brad Neville, Douglas Damm, C. Oral and Maxillofacial Pathology. Available from: VitalSource Bookshelf, (4th Edition). Elsevier Health Sciences (US) https://upload.wikimedia.org/wikipedia/commons/8/8f/Macroglossia_with_crenations_along _the_margins_and_loss_of_papillae_on_dorsum_surface_of_the_tongue.png Deshpande P1, Guledgud MV1, Patil K1, Hegde U2, Sahni A1, Huchanahalli Sheshanna S2., CC BY 3.0 , via Wikimedia Commons Wang, R., Xiao, Y., Li, D. et al. Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study. Ital J Pediatr 46, 55 (2020). https://doi.org/10.1186/s13052-020-0819-3 Creative Commons Attribution 4.0 International License sporadic vs genetic influence Mezzapesa P, Lepore G, Acella V, et al. (March 22, 2020) Clinical Outcomes of Diode Laser Treatment of Ankyloglossia in Children and Young Adults: A Report of Two Cases. Cureus 12(3): e7367. doi:10.7759/cureus.7367 Creative Commons Attribution-NonCommercial- ShareAlike License (CC BY-NC-SA) failure of descent of thyroid anlage (3rd to 4th week of development) Bipul Kumar Choudhury, Uma Kaimal Saikia, Dipti Sarma, Mihir Saikia, Sarojini Dutta Choudhury, Santanu Barua, Swapna Dewri, "Dual Ectopic Thyroid with Normally Located Thyroid: A Case Report", Journal of Thyroid Research, vol. 2011, Article ID 159703, 4 pages, 2011. https://doi.org/10.4061/2011/159703 https://creativecommons.org/licenses/by/3.0/ Jain A, Pathak S. Rare developmental abnormalities of thyroid gland, especially multiple ectopia: A review and our experience. Indian Journal of Nuclear Medicine : IJNM : the Official Journal of the Society of Nuclear Medicine, India. 2010 Oct;25(4):143-146. Creative Commons Attribution Licence MELKERSSON-ROSENTHAL SYNDROME idiopathic intraiesion Aydin S et al. South. Clin. Ist. Euras. 2018;29(2):136-138. DOI: 10.14744/scie.2018.06025. Creative Commons Attribution-Non Commercial 4.0 Lamia Oudrhiri, Soumiya Chiheb and Farida Marnissi et al. Successful treatment of Miescher's cheilitis in Melkersson-Rosenthal syndrome with betamethasone injections and doxycycline. Pan Afr Med J. Vol. 13. Creative Commons Attribution License Deep grooves on dorsal tongue 2% - 5% population Heredity vs aging/local environment https://upload.wikimedia.org/wikipedia/commons/ https://upload.wikimedia.org/wikipedia/commons/0/0b/Fissured_Tongue.JPG 9/97/Fissured_geographic_tongue.jpg Laila, CC BY-SA 4.0 , via FISSURED & Wikimedia Commons FISSURED GEOGRAPHIC slidenot on here browntongue hairytongue dilated, tortuous veins age-related degeneration https://www.pathologyoutlines.com/topic/oralcavityvarix.html https://www.pathologyoutlines.com/topic/oralcavityvarix.html SOLITARY VARIX della Vella F, et al. Appl. Sci. 2019, 9(12), 2412; https://doi.org/10.3390/app9122412; Creative Commons Attribution (CC BY) license (may be removed for (http://creativecommons.org/licenses/by/4.0/). dx or aesthetics) SUBLINGUAL VARICES check to see if it blanches (2/3 adults >60 yrs) diascopy test vascula apply g l relatively large-caliber artery in superficial location esp. older adults Sabrina Araújo Pinho Costa, Marcelo Martinson Ruiz, Shajadi Pardo Kaba, Giovanna Piacenza Florezi, Celso Augusto Lemos Júnior, Andréa Lusvarghi Witzel, "Caliber-Persistent Artery", Case Reports in Dentistry, vol. 2015, Article ID 747428, 5 pages, 2015. https://doi.org/10.1155/2015/747428 https://creativecommons.org/licenses/ by/3.0/ Segundo-Jiménez MDMG, Puche-Torres M, Torres- Gaya J, Marqués-Mateo M. Caliber-persistent Artery: A Case Report. International Journal of Clinical Pediatric Dentistry. 2019 Sep-Oct;12(5):475-477. DOI: 10.5005/jp- journals-10005-1662. PMID: 32440058; PMCID: PMC7229360. Creative commons license. cause: unknown (endocrine influences, heredity) d’Apuzzo, F.; Minervini, G.; Grassia, V.; Rotolo, R.P.; Perillo, L.; Nucci, L. Mandibular Coronoid Process Hypertrophy: Diagnosis and 20-Year Follow-Up with CBCT, MRI and EMG Evaluations. Appl. Sci. 2021, 11, 4504. https://doi.org/10.3390/app11104504 https://creativecommons.org/licenses/by/4.0/ cause: unknown (local circulatory problems, endocrine influences, trauma) Case courtesy of Dr Dalia Ibrahim, Radiopaedia.org, rID: 31778, https://radiopaedia.org/cases/unilateral-condylar-hyperplasia-probable-1 Congenital (e.g., mandibulofacial dysostosis, hemifacial microsomia) Acquired (e.g., trauma, RTX, infection) CASE REPORTS Rev. CEFAC 18 (3) May-Jun 2016 https://doi.org/10.1590/1982-0216201618320215 https://creativecommons.org/licenses/by/4.0/ Double-headed condyle Medial-lateral > anterior-posterior heads Possible causes: trauma, abnormal muscle attachment, teratogens R R, Periasamy S, Kumar S P (August 31, 2021) Bifid Mandibular Isomura ET, Kobashi H, Tanaka S, Enomoto A, Kogo M (2017) A Condyle as the Hidden Cause for Temporomandibular Joint Case of Bifid Mandibular Condyle. OMICS J Radiol 6: 278. DOI: Disorder. Cureus 13(8): e17609. doi:10.7759/cureus.17609 Creative 10.4172/2167-7964.1000278 Creative Commons Attribution License Commons Attribution License localized bony protuberances from cortical plate cause: unknown – genetic and environmental factors (masticatory stress, heredity) REACTIVE SUBPONTINE EXOSTOSIS Lee KH, Lee JH, Lee HJ. Concurrence of torus mandibularis with multiple buccal exostoses. Arch Plast Surg. 2013;40(4):466-468. doi:10.5999/aps.2013.40.4.466 Aydin U, Yildirim D, Bozdemir E. Subpontic osseous hyperplasia: Three case reports and literature review. Eur J Dent. 2013 Jul;7(3):363-367. doi: 10.4103/1305-7456.115424. PMID: 24926218; PMCID: PMC4053627. Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported Clinical Report Rev. odontol. UNESP 43 (01) Jan-Feb 2014 https://doi.org/10.1590/S1807-25772014000100012 Creative Commons Attribution non-commercial license Lee KH, Lee JH, Lee HJ. Concurrence of torus mandibularis with multiple buccal exostoses. Arch Plast Surg. 2013;40(4):466-468. doi:10.5999/aps.2013.40.4.466 TORUS PALATINUS TORUS MANDIBULARIS https://commons.wikimedia.org/ wiki/File:Torus_mandibularis_-_CT_axial_und_Volume_rendering_-_001.jpg; Hellerhoff, CC BY-SA 3.0 , via Wikimedia Commons Lee KH, Lee JH, Lee HJ. Concurrence of torus mandibularis with multiple buccal exostoses. Arch Plast Surg. 2013;40(4):466-468. doi:10.5999/aps.2013.40.4.466 Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 9360 https://radiopaedia.org/articles/stylohyoid-ligament https://upload.wikimedia.org/wikipedia/commons/f/f3/Proc_styloide us.JPG de:Benutzer:MBq, Copyrighted free use, via Wikimedia Commons Calcified stylohyoid ligament or elongated styloid process  impinges on adjacent nerves/vessels May occur after tonsillectomy or neck trauma in Taininear Moon CS, Lee BS, Kwon YD, et al. Eagle's syndrome: a case report. Journal of the Korean Association of Oral and Maxillofacial Surgeons. 2014 Feb;40(1):43-47. DOI: 10.5125/jkaoms.2014.40.1.43. PMID: 24627843; PMCID: PMC3949492. Creative commons license Mandible: lingual cortical concavity May contain salivary glands, fibrous tissue, fat Coronation Dental Specialty Group , CC BY 3.0 Coronation Dental Specialty Group , CC BY 3.0 , via , via Wikimedia Commons Wikimedia Commons L papilla lined by epithelium ~55-85% neonates https://upload.wikimedia. org/wikipedia/commons/ d/de/Epstien_pearl.png Sghael, Public domain, via Wikimedia Commons Diaz de Ortiz LE, Mendez MD. Palatal And Gingival Cysts Of The Newborn. [Updated 2022 May 1]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK493177/ Creative Commons Attribution 4.0 International License (http://creativecommons. org/licenses/by/4.0/) developmental cyst, upper lip lateral to midline theories on origin: fissural cyst vs. misplaced nasolacrimal duct epithelium Patil AR, et al. Bilateral nasolabial cysts - case report and review of literature. The Indian Journal of Radiology & Imaging. 2016 Apr-Jun;26(2):241-244. DOI: 10.4103/0971-3026.184424. Creative Commons Attribution-NonCommercial- ShareAlike 3.0 License https://radiopaedia.org/articles/nasolabial-cyst-2 Most common non-odontogenic cyst in oral cavity 1% of population Origin: remnants of nasopalatine duct Oliveira LJ et al. PATHOLOGY, CASE REPORT J. Bras. Patol. Med. Lab. 53 (6) Nov-Dec 2017 https://doi.org/10.5935/1676- 2444.20170066 https://creativecommons.org/licenses/by/4.0/ Goncalves Junior LB, Viana Pinto PH, Torres Silva AV, Rocha MM, Mendes Jd, Bezerra Pinto AS. Importance of volumetric reformatting in the treatment of maxillofacial lesions: A case report of nasopalatine duct cyst. J Oral Maxillofac Radiol 2018;6:51-4 Creative Commons Attribution-NonCommercial-ShareAlike Courtesy of Dr. Kelly Magliocca, https://www.pathologyoutlines.com/topic/mandiblemaxillanasopalatine.html License (CC BY-NC-SA) Gardners syndrome caused APC mutations by keratin-filled cysts arising from hair follicles in skin PILAR CYST https://dermnetnz.org/topics/epidermoi d-and-trichilemmal-cyst-images https://creativecommons.org/licenses/by -nc-nd/3.0/nz/ https://dermnetnz.org/topics/epidermoid-and-trichilemmal-cyst-images https://creativecommons.org/licenses/by-nc-nd/3.0/nz/ Nephron, CC BY-SA 3.0 , via Wikimedia Commons Mikael Häggström, M.D. - CC0, via Wikimedia Commons https://upload.wikim edia.org/wikipedia/co mmons/2/29/Histopa thology_of_trichilemm al_cyst.jpg benign cystic form of teratoma Iderived Fr dirt germlayer Baliga, Mohan & Shenoy, Nandita & Poojary, Dharnappa & Mohan, Ram & Naik, Ramdas. (2014). National journal of maxillofacial surgery. 5. 79-83. 10.4103/0975-5950.140185. https://creativecommons.org/licenses/by-nc-sa/3.0/ doughy rubbery got Nobuo Ohta, Tomoo Watanabe, Tsukasa Ito, Toshinori Kubota, Yusuke Suzuki, Akihiro Ishida, Seiji Kakehata, Masaru Aoyagi, "A Case of Sublingual Dermoid Cyst: Extending the Limits of the Oral Approach", Case Reports in Otolaryngology, vol. 2012, Article ID 634949, 4 pages, 2012. https://doi.org/10.1155/2012/634949 Developmental cyst derived from thyroglossal tract remnants Klaus D. Peter, Gummersbach, Germany, CC BY 3.0 DE , via Wikimedia Commons https://www.pathologyoutlines.com/topic/thyroidthyroglossal.html https://commons.wikimedia.org/wiki/File:Thyreoglossal_duct_cyst.jpg origin: epithelial remnants of branchial arches (esp. 2nd arch) Creative Commons Attribution 4.0 International License (CC BY) Raguse JD, Anagnostopoulos I, Doll C, Heiland M, Jöhrens K. Possible Estrogen Dependency in the Pathogenesis of Branchial Cleft Cysts. Biomed Res Int. 2017;2017:1807056. doi:10.1155/2017/1807056 Creative Commons Attribution License https://creativecommons.org/licenses/by-nc-nd/4.0/ Bocchialini G, Bozzola A, Daleffe F, Ferrari L, Castellani A. Unusually rapid development of a lateral neck mass: Diagnosis and treatment of a branchial cleft cyst. A case report. Int J Surg Case Rep. 2017 Nov 16;41:383-386. doi: 10.1016/j.ijscr.2017.10.065. PMID: 29545997; PMCID: PMC5697997. esp. anterior to SCM, tx: surgical removal, px: recurrence rare https://www.pathologyoutlines.com/topic/mandiblemaxillal ymphoepithelial.html Atrophy on one side of face Etiology unknown (trauma, Lyme dz, form of localized scleroderma?) Desherinka, CC BY-SA 3.0 , via Wikimedia Commons Rare developmental condition Etiology unknown Castaño P, Varela I, Limeres J, Diniz-Freitas M, Abeleira MT, Outumuro M, Feijoo JF, Diz P, García-Caballero L. Case report of segmental odontomaxillary dysplasia with cutaneous manifestations. Eur J Paediatr Dent. 2020 Sep;21(3):235-237. doi: 10.23804/ejpd.2020.21.03.14 craniosynostosis syndromes FGFR2 mutations, AD, often sporadic (increased paternal age) “beaten metal” pattern http://www.clinicalimagingscience.org/text.asp?2012/2/1/70/104303 Creative Commons Attribution License, KateVUk, CC BY-SA 4.0 , via Wikimedia Commons https://upload.wikimedia.org/wikipedia/commons /5/5c/Baby_with_Crouz on_Syndrome.jpg https://upload.wikimedia.org/wikipedia/commons /5/52/Patient_with_Aper t_syndrome.jpg CC BY 2.0 , via Wikimedia Commons Gzzz, CC BY-SA 4.0 , via Wikimedia Commons https://upload.wikimedia.org/wikipedia/commons/3/36/Hands_in _Apert_syndrome.JPG Vadiati Saberi B, Shakoorpour A. Apert syndrome: report of a case with emphasis on oral manifestations. Journal of Dentistry (Tehran, Iran). 2011 ;8(2):90-95. PMID: 21998814; PMCID: PMC3184741. (CC BY-NC 3.0) defects of 1st & 2nd branchial arch structures AD, TCOF1 mutations 1 in 50,000 births Marszałek-Kruk, B.A.; Wójcicki, P.; Dowgierd, K.; Śmigiel, R. Treacher Collins Syndrome: Genetics, Clinical Features and Management. Genes 2021, 12, 1392. https://doi.org/10.3390/genes12091392 https://creativecommons.org/licenses/by/4.0/ Oral and Maxillofacial Pathology (5th Edition) by Neville BW, Damm D, Allen CM, Chi AC. Available from VitalSource Bookshelf, Elsevier Health Sciences (US): -Chapter 1: Developmental Defects of the Oral and Maxillofacial Region, pp. 1-44 -Orofacial granulomatosis pp. 330-333

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