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Syndromes Affecting Ear Nose & Throat Journal of Analytical & Pharmaceutical Research Syndromes Affecting Ear Nose & Throat 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 thanreflect 4,000 the presencegenetic disordersof 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 Submit Manuscript | http://medcraveonline.com J Anal Pharm Res 2017, 5(4): 00147 Copyright: Syndromes Affecting Ear Nose & Throat ©2017 Bhattacharjee et al. 2/5 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 painof 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 and of underdeveloped4 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 mostdone important in several stage stages in entire over treatmentthe 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
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