Syndromes Affecting Ear Nose & Throat

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Keywords: Throat Review Article genetic disorders; oral manifestations; Ear, Nose, Abbreviations: Volume 5 Issue 4 - 2017 TCS: Treacher Collins Syndrome; RHS: Ramsay Hunt Syndrome; FNP: Facial Nerve Palsy; CHD: Congenital Heart Diseases; AD: Alzheimer’s Diseases; HD: Hirschprung Disease; DS: Down Syndrome; ES: Eagle’s Syndrome; OAV: Department of oral pathology and microbiology, Rajiv Gandhi Oculo-Auriculovertebral; VZV: Varicella Zoster Virus; MPS: University of Health Sciences, India Myofacial Pain Syndrome; FMS: Fibromyalgia Syndrome; NF2: *Corresponding author: Kalpajyoti Bhattacharjee, IntroductionNeurofibromatosis Type I Department of oral pathology and microbiology, Rajiv Gandhi University of Health Sciences, Rajarajeswari Dental College The term syndrome denotes set of signs and symptoms that Email: disease or an increased chance of developing to a particular and Hospital, Bangalore, India, Tel: 8951714933; disease.tend to occurThere together are more and than reflect 4,000 the presencegenetic disorders of a particular that Received: | Published: constitute head and neck syndromes of which more than 300 May 09, 2017 July 13, 2017 entities involve craniofacial structures [1]. The heritage of the term syndrome is ancient and derived from the Greek word sundrome: sun, syn – together + dromos, a running i.e., “run together”, as the features do. There are of mutated cell are confined to one site and leads to formation of numerous syndromes which involve Ear, Nose, Throat areas with Listmonostotic of Syndromes fibrous dysplasia Affecting [2]. Ear Nose & Throat oral manifestations. The aim of this review is to discuss ear, nose a. Goldenhar syndrome, and throat related syndromes with oral manifestations. b. Frey syndrome, Etiopathogenesis c. Eagle’s syndrome, The genetic factors either in isolation or in conjunction with various environmental factors play a role in causation d. Ramsay Hunt syndrome, of these craniofacial anomalies. Many syndromes are due to a e. Down’s syndrome, genetic anomaly, including chromosomal anomalies, monogenic diseases and metabolic disease. The intercommunication f. Treacher Collins syndrome (TCS). between genetics and environment is essential especially during Goldenhar syndrome early developmental stages. Any disturbance or alteration in these genetic and environmental factors may lead to various Goldenhar syndrome is a diverse and poorly understood morphological and functional errors and hence to syndromes. continuum of disorders of unknown etiology. It is a complex of Changes in DNA due to alteration can cause errors in protein developmental disorders (face, ears, eyes, spine, etc.), varying in sequence, creating partially or completely non-functional proteins, severity in each patient (Berker et al.). The estimated incidence of resulting into a inherited disorder. Many syndromes are due to a the syndrome ranges from 1 in 3500 to 5600 live births. The male- genetic anomaly, including chromosomal anomalies, monogenic diseases and metabolic diseases. Environmental factors are not associated with this syndrome are thalidomide, malnutrition, transmitted hereditarily and establish the progress of disease tobaccoto-female and ratio herbicides is approximately which are 3:2 able [3]. toSome produce teratogenic free radicals agents in those hereditarily predisposed to a particular condition. In which break the DNA resulting in congenital malformation [4]. terms of syndromes, commonest ecological source is teratogenic exposure. A teratogen is any chemical, substance, or exposure that the literature and suggested that GS is the outcome some type of may cause birth defects to the developing fetus [1]. vascularThe etiology perturbation of GS remains and/or unknown. neural crestopathy Hartsfield (2007) during reviewed a critical time of embryogenesis. In the literature autosomal dominant, If mutations occurs in undifferentiated stem cells during early autosomal recessive and multifactorial inheritance patterns have embryonic life, osteoblasts, melanocytes and endocrine cells been reported, but most of GS cases are sporadic [5]. that represent the progeny of the mutated cell all will carry that mutation and express the gene. Hence result in multiple bone Varied clinical features of syndrome: lesions, cutaneous pigmentation and endocrine disturbances. If Preauricular skin tags, dysmorphic ear, conductive mutations occurs during later period, then progeny of mutated a. Ear: hearing loss. cell will disperse and participate in formation of polyostotic b. Neck: fibrous dysplasia. If mutation occurs during postnatal life, progeny Branchial cartilage, branchial fistula, webbing, short

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neck, abnormalities of sternocleidomastoid muscle. parotid or smaller salivary glands begin to aberrantly innervate sweat glands and cutaneous vasculature. This not only results in c. Abdominal wall: Divarication of recti, Umbilical hernia, inguinal hernia. associated with gustatory stimulation characteristic of the d. Eye: Epicanthal folds, upper/lower lid coloboma, gustatory sweating, but also the flushing, warmth, and erythema A variety of medical and surgical modalities have been used exotropia, epiphoora, micro opthalmia,epibulbardermoids, syndrome [7]. to manage the symptoms of Frey syndrome. Topical therapies lipodermoids.Optic Nerve coloboma, ocular drainage abnormalities, target either the cholinergic synapse via acetylcholine receptor e. Back: Pilonidal dimple, kyphoscoliosis, Sprengel’s antagonism (scopolamine, atropine, and glycopyrrolate) or the deformity. eccrine gland via direct inhibition of eccrine gland secretion f. Hands/Fingers: clubbing, polydactyly, clinodactyly, single palmar crease. (aluminumEagle’s syndrome chloride solutions and other antiperspirants) [7]. g. Skeletal: Cervical fusion, Hemivertebrae. Cardiomegaly, ventricular hypertrophy, h. Cardio vascular: orofacialES which pain. was There defined are two by clinical Eagle, presentations is a condition including related classicto the stylohyoidelongation and ossificationstylocarotid of syndromes. the styloid Theprocess classic that stylohyoid results in syndrome, due to affection of lower cranial nerves, presents in the i. ASD,Gastrointestinal: VSD, TOF. TEF and anal anomalies. form of cervicofacial pain accompanied by dysphagia and foreign j. Genitourinary: Chordee, undescended testes, body sensation. The stylocarotid syndrome, due to carotid artery compression, may be associated with a neurological focus and even syncope. ES may present unilaterally or bilaterally. The most k. abnormalitiesSkin and Adnexa: of size Low of testes.posterior hair line. frequent symptoms are dysphagia, headache, pain on extension of the tongue, change in voice or sensation of hypersalivation hypoplasia, macrostomia, mandibular ramus asymmetry, and particularily pain during the neck rotation [8]. Following malocclusion,Oral manifestations cleft lip and include cleft palate. maxillary hypoplasia, zygomatic data in literature, it is a rare disease. 0.04-0.08% of population Treatment depends on the patient’s age and systemic is suffering from it. Radiological analysis is the basic method for manifestations, but generally requires a multidisciplinary approach. Treatment varies according to age of the patient: diagnostics of its nature [9]. trismus,the localization tongue pain of the in general, stylohyoid sensation complex of disturbanceincreased salivation, and the Oral manifestations include painful who are mildly affected. Reconstruction by rib bone graft and pain triggered by movement of mandible, pain in the molar region lengtheningBetween 2 andof underdeveloped 4 years, no treatment mandible is necessaryby a bone for distraction patients of the mandible. device is recommended in severe underdeveloped mandible, Both surgical and conservative treatment methods exist. Surgical methods involve amputating or removing the elongated from orthodontics. Amongst, 6-8 years reconstruction of the styloid process through an intraoral or extraoral approach. In modifications in the growth of teeth are done with the assistance conservative treatment, oral medication with antidepressants months. In 8-10 years, asymmetry of cheek is to be reconstructed. and anticonvulsants can be used, and steroid or local anesthesia Thisexternal may earbe the is most done important in several stage stages in entire over treatment the period program, of 6-12 with long-term effects can be used on the tonsil or tender areas. in terms of physical appearance. In mild involvement no surgery is required while jaw surgery may be done in teenagers [6]. relaxing the muscles that had been constricted due to styloid processOther methods stimulation include [10]. reducing pain through physical therapy, Frey syndrome Frey syndrome most commonly occurs after parotid surgery Ramsay hunt syndrome and erythema that occurs with gustatory stimulation due to damageand refers of toauriculotemporal a combination ofnerve. hyperhidrosis, The patient warmth, who developsflushing, Ramsay Hunt syndrome (RHS), first described by J. Ramsay this condition may experience only one or a combination of the Hunt in 1907, refers to the association of unilateral peripheral symptoms that comprise the syndrome. The key component is that reportedfacial nerve to palsyhave (FNP)the incidence and reactivation of 5 per of 100000, VZV along and the known sensory to nerves innervating the ear (herpes zoster oticus). RHS has been thegustatory affected stimulation person eats, elicits sees, the dreams, symptoms. thinks aboutOral manifestations or talks about be approximately 12% of all facial nerve paralysis cases [11]. certaininclude kindssalivation of food reflex which from produce mastication. strong They salivation can appear. when otherAlthough regular Ramsay symptoms Hunt and syndrome signs such is traditionallyas tinnitus, hearing defined loss, as nausea,zoster oticus vomiting, and lowervertigo, motor and neuronnystagmus. facial He palsy, explained Hunt notedthese Pathophysiology: The syndrome arises from an alteration [7] of the complex network of nerves found in the preauricular area. eighth nerve features by the close proximity of the geniculate The currently accepted pathogenesis of Frey syndrome is that ganglion to the vestibulocochlear nerve within the bony facial trauma in the area of the parotid gland results in sectioning canal. Hunt surmised that the gasserian, geniculate, petrous, accessory, jugular, plexiform, and second and third cervical dorsal of both sympathetic and parasympathetic fibers. During their regeneration, parasympathetic fibers originally meant for the root ganglia comprised a chain in which inflammation of a single

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Bhattacharjee K, Karnam S, Girish HC, Murgod S, Rajeshwari HS (2017) Syndromes Affecting Ear Nose & Throat. J Anal Pharm Res 5(4): 00147. DOI: 10.15406/japlr.2017.05.00147 Copyright: Syndromes Affecting Ear Nose & Throat ©2017 Bhattacharjee et al. 3/5

ganglion could extend to nearby ganglia. This hypothesis explained expressivity. It is estimated that the frequency of TCS is 1 in cases of unilateral facial palsy accompanied by contiguous cranial 50,000 live births. Approximately 60% of the autosomal dominant neuropathies associated with vesicles in the mouth—usually on occurrences arise as de novo mutation. Genetically, the treacle pain deep in the face, salivation, unilateral facial paralysis, vesicles inthe the tongue mouth-usually or hard palate-or on the tongue ear [12]. or hard Oral palate-or manifestation ear. Acyclovir include responsiblegene (TCOF1) for is mutated.the craniofacial It is found development. on chromosome Symptoms 5q31.3- in combination with corticosteroids are considered the correct include32 and encodesdown slanting a serine/alanine eyes with rich notched nucleolar lower phosphoprotein lids, sunken treatment of RHS [13] (Figure 1). cheekbones and jawbones, pointed nasal prominence, broad mouth and high arched palate, malformation of the auricular pinnae and conducting hearing loss and preauricular hair extension. A minority of those affected with TCS may have cleft lip and/or palate [16]. Surgical treatments are not fully corrective. Administration of folic acid before and after pregnancy provides measurable protection for the embryo from apoptosis without

embryo is most susceptible to the development of craniofacial detrimental side effects during the 3 to 12-week period when the

Discussionand other anomalies [17]. A syndrome is a set of sign and symptoms that are related to each other and reveal the presence of a particular disease and an

abundant orofacial syndromes and many of them affecting the ear,amplified nose andchance throat of emerging areas and to meticulousa particular knowledge disease. There of their are manifestations and implications is relevant in good oral health care delivery. The most common syndromes occurring in the Ear, Nose

syndrome (TCS), Ramsay Hunt Syndrome (RHS), Down syndrome & Throat areas are Goldenhar´s syndrome, Treacher-Collins Figure 1: Clinical features of Ramsay Hunt syndrome. Note peripheral syndrome, Frey syndrome. decreased forehead wrinkling and smile on the right, often associated (DS), Eagle’s syndrome (ES), Crouzon syndrome, Stickler withfacial vesicles weakness in the characterised ipsilateral ear, by on a the widened hard palate, palpebral or on the fissure anterior and two thirds of the tongue. terms are used to describe this rare condition known as oculo- Goldenhar´s syndrome is an inherited condition and several and hemifacial microsomia [18]. The term oculoauriculovertebral Down’s syndrome auriculovertebral (OAV) dysplasia, including Goldenhar’s syndrome Down syndrome is one of the most leading causes of intellectual epibulbar dermoids and/or lipodermoids, auricular appendages, disability and millions of these patients face various health issues dysplasia is used to illustrate the syndrome characterized by including learning and memory, congenital heart diseases (CHD), branchialauricular fistulas,arches are and in vertebralthe spectrum anomalies. of GS, including Syndromes Treacher- derived Collinsfrom aberrations syndrome (TCS). in the The development presence of offacial the asymmetry first and secondand far ageAlzheimer’s and differs diseases in population (AD), leukemia,(between 1 cancers in 319 and and 1 Hirschprung in 1000 live less hypoplasia of the malar bones in GS are important features births).disease DS(HD). complex The incidence phenotype of trisomyresults fromis influenced dosage imbalance by maternal of to differentiate it from TCS. The TCS affected patients presented have variety of physical characteristics like a small chin, slanted mandibular hypoplasia, partial absence of the lower eyelid cilia, genes located on human chromosome 21(Hsa 21). DS individual anddownward abnormalities slating palpebralof the ears. fissures,5 colobomas, zygomatic and by absent, small, or unusually formed ears. Hearing loss occurs eye, poor muscle tone, small nose with flat nasal bridge, a single TCS patients are characterized [14].crease Management of the palm, of small the syndrome mouth and require large tongue.a planned Other approach features of defects of the three small bones in the middle ear, which transmit evaluation,includes big monitoring, toe, abnormal prevention, pattern of andfingerprint vigilance. and Enhancement short fingers sound,in about or half by underdevelopmentof all affected individuals; of the ear hearing canal [19].loss is caused by in the quality of life of individuals with Down’s syndrome has Ramsay Hunt Syndrome (RHS) is a viral polineuropathy, resulted from improvements in medical care. Recognition and treatment of psychiatric disorders, and early educational inside dorsal roots and cranial nerve ganglions. Aging, malignity, interventions with support in typical educational settings [15]. occurs after reactivation of Varicella Zoster virus (VZV) hiding Treacher collins syndrome (TCS) reactivation of this virus. Characteristic features of RHS are painfulchemoradiotherapy herpetic vesicules exposure, on immune tympanic deficiency membrane may and/or trigger Treacher Collins syndrome is an autosomal dominant disorder external auditory meatus with facial paralysis on the same side of craniofacial morphogenesis with high penetrance and variable

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and presence of these vesicules fascilitate differential diagnosis be taken at an early stage to prevent the morbidity and mortality viral infection, vascular ischemia, and autoimmune disease have associatedidentifying withand recognizing these conditions. these oralTill signsnow thereso that is measures no complete can beenfrom Bell’spostulated Palsy [20].as the The possible etiology pathomechanisms. of Bell’s palsy is unknown Severe pain but treatment for genetic syndromes, rendering only symptomatic treatment by means of multidisciplinary approach. If the disorder vesicular eruption and progression to Ramsay Hunt syndrome is heritable, there is an added dimension the need to know the suggests herpes simplex or zoster infection and may precede genetic risk and the means available to prevent its transmission. Proper genetic counseling, genetic screening should be done [21]. along with various antenatal diagnostic methods are there to know about the disorders, so that these devastating conditions Down syndrome (DS) is caused by trisomy of chromosome 21 can be prevented. (Hsa21) and is related with a number of deleterious phenotypes, childrenincluding with learning Down’s disability, syndrome heart should defects, be early-onset assessed for Alzheimer’s congenital References heartdisease disease, and childhoodhearing loss, leukaemia and ophthalmological [22]. Soon after problems. birth, The all most frequent lesions are atrioventricular septal defect (45% of 1. Khanna S, Narendra Singh NN, Brave VR, Sreedhar G, Purwar newborns with Down’s syndrome) and ventricular septal defect Etiopathogenesis, Diagnosis and Management – A Systematic Review. A, et al. (2013) Oro-Facial Syndromes: An Approach towards

Fallot(35%); (4%), isolated and other secundum lesions atrial (1%) septalcan also defects arise [15]. (8%), isolated 2. International Journal of Oral & Maxillofacial Pathology 4(1): 15-25. persistent patent ductus arteriosus (7%), isolated tetralogy of Maxillofacial Pathology. (3rd edn), New Delhi, India. Eagle’s syndrome represents symptoms brought on by Neville BW, Damm DD, Allen CM, Bouquot JE (2002) Oral and compression of regional structures by elongation of the styloid 3. Kokavec R (2006) Goldenhar syndrome with various clinical ligaments. symptoms include the throat pain radiating to 4. manifestations. Cleft Palate Craniofac J 43: 628-634. ipsilateralprocess or ear ossification or foreign ofbody the sensation stylohyoid in the or pharynx stylomandibular causing Sharma JK, Pippal SK, Raghuvanshi SK, Shitij A (2006) Goldenhar- odynophagia and dysphagia.There are three syndromes closely Gorlin’s syndrome: A case report. Indian J Otolaryngol Head Neck connected with the styloid process syndrome: Costen’s, Trotter’s, 5. Surg 58(1): 97-101. and Myofacial painful syndromes (Sandev et al.). Clinicians should consider coexisting locomotor system disorders such as 649.Martelli H, Miranda RT, Fernandes CM (2010) Goldenhar syndrome: Myofacial pain syndrome (MPS), Fibromyalgia syndrome (FMS), clinical features with orofacial emphasis. J Appl Oral Sci 18(6): 646- 6. and Temporomandibular dysfunction in patients with Eagle’s Patil NA, Patil AB (2015) Goldenhar syndrome: Case report. IJSS 7. Journal of Surgery 1(1): 18-20. SyndromeFrey syndrome [23]. Diagnosis is a sequela is done throughobserved radiography. after parotidectomy Facial Melanoma: Auriculotemporal Syndrome Presenting with and the reported incidence varies enormously in the literature. GustatoryJahan-Tigh Sweating RR, Cohen Following PR (2012) Wide Frey Local Syndrome Excision, in aSentinel Patient Node with The classic syndrome triad is hyperemia, heat and sweating in

Biopsy, and Superficial Parotidectomy. J Clin Aesthet Dermatol 5(7): The most widely accepted explanation for Frey’s syndrome is 8. 48-52. the transection pre-mandibular of postganglionic region and theparasympathetic mandible angle secretomotor area [24]. Hadi S, Ozgur C, Serra S, Mehdi S (2013) 3D reconstruction gland, followed by aberrant re-innervation of the denervated computerized tomography findings of an asymptomatic Eagle’s 9. Syndrome patient: a case report. Int J Anat Var 6: 176-178. facialfibres cholinergic from the otic sweat ganglion glands originally and blood directed vessels. to Mechanisms the parotid treatment peculiarities of Eagle’s syndrome. Stomatologija, Baltic DentalGervickas and A,Maxillofacial Kubilius R, Journal Sabalys 6(1): G (2004) 11-13. Clinic, diagnostics and infor the flushing auriculotemporal include misdirected and nearby regeneration nerves and/or or collateral release 10. sprouting of parasympathetic fibres into sympathetic pathways Han MK, Kim DW, Yang JY (2013) Non Surgical Treatment of Eagle’s Syndrome-A Case Report. J Korean Assoc Oral Maxillofac Surg 26(2): isof not bradykinin-producing a disorder of the inner enzymes ear may by present activated with sweat hearing glands loss 11. 169-172. (whichresulting can in bevasodilatation of sudden onset), [25]. Neurofibromatosis tinnitus and recurrent type episodes II (NF2) Kim CH, Kang SI, Kim YH (2012) A Case of Ramsay Hunt Syndrome of vertigo. 12. with Cranial Polyneuropathy. Korean J Audiol 16(2): 80-82. Sweeney CJ, Gilden DH (2001) Ramsay Hunt syndrome. J Neurol Conclusion 13. Neurosurg Psychiatry 71(2): 149-154. revisited–emphasis on Ramsay Hunt syndrome with multiple cranial Eyes can only see what the brain knows. Importance of this Rasmussen ER, Lykke E, Toft JG, Mey K (2014) Ramsay Hunt syndrome diseases leave their footmarks in oral cavity as an early sign. The 14. nerve involvement. Virology Discovery 2: 1. majorityproverb isof realized the craniofacial in our lives anomalies time and have time oral again. manifestations, Many lethal Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S (2015) Down and many a times they are the only symptoms to present at the 15. syndrome: an insight of the disease. J Biomed Sci 22(1): 41. particular stage. The role of dentist plays a major role in the Roizen NJ, Patterson D (2003) Down’s syndrome. Lancet 361(9365): 1281-1289.

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16. 22. syndrome-recent progress and future prospects. Hum Mol Genet Shete P, Tupkari JV, Benjamin T, Singh A (2011) Treacher Collins Wiseman FK, Alford KA, Tybulewicz VLJ, Fisher EMC (2009) Down 17. syndrome. J Oral Maxillofac Pathol 15(3): 348-351. 23. 18(R1): R75-R83. Trainor PA, Dixon J, Dixon MJ (2009) Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet 17(3): 275- 558.Piagkou M, Anagnostopoulou S, Kouladouros K, Piagkos G (2009) 18. 283. Eagle’s syndrome: A review of the literature. Clin Anat 22(5): 545- 24. Pinheiro ALB, Araújo LC, Oliveira SB, Sampaio MC, Freitas AC (2003) 19. Goldenhar’s syndrome: Case report. Braz Dent J 14(1): 67-70. Santos RC, Chagas JF, Bezerra TF, Baptistella JE, Pagani MA, et al. International Journal of Pharmaceutical and Chemical Sciences 3: (2006) Frey’s Syndrome prevalence after partial parotidectomy. Desai V, Pratik P (2014) Mandibulofacial dysostosis. a case report. 25. Braz J Otorhinolaryngol 72(1): 112-115. Unilateral Gustatory Flushing: A Variant of Frey’s Syndrome? J Clin 20. 431-432. Matin RN, Esdaile B, de Sica Chapman A, Ross J, Grabczynska S (2013)

Gurbuz M, Birdane L, Incesulu A, Saylısoy S, Kecik C (2010) A Case of ExpDermatol Res S6: 007. Ramsay Hunt Syndrome after inactive influenza vaccine. Int Adv Otol 21. 6(3): 419-422.

Basić-Kes V, Dobrota VD, Cesarik M, Matovina LZ, Madzar Z, et al. (2013) Peripheral facial weakness (Bell’s palsy). Acta Clin Croat 52(2): 195-202.

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Bhattacharjee K, Karnam S, Girish HC, Murgod S, Rajeshwari HS (2017) Syndromes Affecting Ear Nose & Throat. J Anal Pharm Res 5(4): 00147. DOI: 10.15406/japlr.2017.05.00147