Syndromes of head and neck region and their unique clinical features

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    Syndromes of head and neck region and their unique clinical features

    Table of Contents

    Syndromes of head and neck Albright syndrome:

    syndromes-of-head-and-neck-Albright-syndrome

     – Polyostotic fibrous dysplasia (multiple bones affected)

     – Patchy skin pigmentation (café au lait)          

     – Endocrine abnormality

     – Facial asymmetry in 25% of cases

    Apert syndrome:  

    syndrome-of-head-and-neck-apert-syndrome
    • Is rare develpmental deformity
    • Craniosynostosis (premature fusion of sutures)
    • Syndactyly (fusion of fingers or toes)
    • Severe Mid-face retrusion
    • lead to exophthalmus

     

    Behcet syndrome:

    • Oral, genital ulcers & uvietis
    • young males
    • associated with HLA-B5
    • treated with thalidomide
    syndrome-of-head-and-neck-bachet-syndrome

    Binder syndrome:

    syndrome-of-head-and-neck-blinder-syndrome
    • Maxillo-nasal dysplasia
    • Severe Mid-face retrusion
    • Absent or hypoplastic frontal sinuses
    syndrome-of-head-and-neck-caplan-syndrome

    Caplan Syndrome:  (in lungs of a Rheumatoid Arthritis patient)

    • Nodular Pulmonary fibrosis in a patient with R.A. who is exposed to various industrial ducts

    Carpal tunnel Syndrome:

    • In Reumatoid arthritis & also with Acromegaly due to compression of medial n.)
    • Atlastoaxial subluxation (due to weakening of the transverse ligament of Atlas) may lead to neurological abnormalities
    • Polyneuropathy

    Chediack-Hegashi syndrome: (Genetic disease)

    • defective neutrophil function so, increase susceptibility to infection (leading to severe gingivitis, periodontitis & aphthae in young children)
    • abnormal skin pigmentation

    Cleidocranial dysostosis:( Autosomal dominant )

    Cleidocranial-dysplasia
    • hypoplasia or aplasia of clavicles
    • short stature, large short skull
    • delayed ossification of cranial fontanelles
    • frontal bossing, mid-face hypoplasia
    • high arched palate or clefting
    • delayed eruption of teeth with multiple supernumerary teeth

    Cri du chat syndrome:

    syndrome-of-head-and-neck-cri-du-chat-syndrome
    • Chromosomal abnormality (caused by deletion of short arm of chromosome no.5)
    • microcephaly
    • hypertolorism
    • round face, broad nasal bridge, malformed ears
    • severe mental retardation
    • laryngeal hypoplasia : characteristic shrill cry

    Crouzon syndrome:

    • the commonest of craniosynostoses
    • autosomal dominant
    • premature closure of cranial sutures
    • increase intracranial pressure : cerebral damage   
    • midface hypoplasia, shallow orbit, proptosis of eyes
    • Radiographically: characteristic ‘beater copper skull’

    Digeorge Syndrome “Thymic hypoplasia” : (1ry immune deficiency)

    syndrome-of-head-and-neck-digeorge-syndrome
    • Failure of development of 3rd & 4th branchial pouches “thymus”
    • T-cell defiency
    • Tetany, congenital defects of heart and great vessels
    • Recurrent fungal infections (oral candidiosis)
    • Recurrent Viral infections (herpes)
    • Eitiology: Intrauterine damage at 8 w.i.u.
    • need “Thymus transplant”

    Down syndrome: ( trisomy 21 )

    syndrome-of-head-and-neck-down-syndrome
    • the commonest of all malformation syndrome
    • 1 : 6000 of birth, increase with increase of maternal age
    • severe mentally handicapped child
    • midface retrusion,facial clefts
    • upward sloping palpebral fissures (mongoloid slant)
    • small nose with flattened nasal bridge
    • shortened palate,cleft lip or palate
    • macroglossia, tongue clefts
    • delayed eruption of teeth
    • heart defects, atlantoaxial sublaxation
    • extremely friendly and cooperative

    Eagle syndrome:

    • dysphagia & pain in chewing and turning the head
    • elongated styloid process
    syndrome-of-head-and-neck-ehler-danlos-syndrome

    Ehlers-Danlos syndrome:

    • abnormality of collagen
    • increased bleeding & bruising (bleeding is common in type IV)
    • hyperflexibility of joints, recurrent TMJ dislocation
    • hyperelasticity of skin
    • small teeth with short roots – common pulp stones
    • early onset periodontal dis. in type VII

    Felty’s syndrome: (in Rheumatoid Arthritis)

    syndrome-of-head-and-neck-felty-syndrome
    • palpable lymph nodes
    • enlarged spleen
    • neutropenia

    Frey syndrome:

    syndrome-of-head-and-neck-frey-syndrome
    • follows trauma to skin overlying salivary gland
    • due to crossover symp.& parasymp. innervation of skin & gland
    • may follow parotidectomy
    • gustatory sweating & flushing of skin

    Gardener syndrome: (autosomal dominant)

    syndrome-of-head-and-neck-gardener-syndrome
    • multiple osteomas of jaws & facial bones
    • multiple polyps of large intestine (polyposis coli) which have a tendency to rapid malignant change
    • multiple epidermoid cysts
    • multiple impacted perm. & supernumerary teeth

    Goldenhar syndrome: (variant of hemifacial   

    • microtia (small ears)           
    • macrostomia
    • agenesis of mandibular ramus & condyle
    • 10% may be handicapped

    Gorlin-Goltz syndrome: (multiple basal cell naevi/jaw cysts syndrome)

    • multiple basal cell carcinoma ‘naevi’ in skin (epitheliomas)
    • multiple odontogenic keratocysts of jaw
    • mandibular prognasthism
    • cleft lip, palate in 5%
    • vertebral-rib anomalies
    • due to mutation of PTCH ‘patched tumor suppressor gene’

    Graves’ disease: (Autoimmune disease)

    • Abnormal presence of thyroid-stimulating
    • Immunoglobulin which stimulate both secretion & Growth of thyroid gland
    • hyperthyroidism
    • ophthalmopathy (bulging eyes)
    • 2-5% of Women 30-50y commonly affected

     

    Heerfordt syndrome: (uveoparotid fever)

    • is sarcoidosis with lacrimal, salivary swelling ‘esp. parotid’
    • uvitis – bilateral
    • fever
    • neuropathies (e.g. facial palsy)

    Hemifacial microsomia :

    • 1 :5000 birth «congenital»
    • lack of hard & soft tissues in the affected side
    • usually at ramus & external ear (1st &2ed branchial arches)

    Histocytosis-X :

    • Histological features of infiltration by macrophages & eosinophils 3 broad groups of diseases :
    • Solitary eosinophilic granuloma «mandible in males <20y
    • Hand-Schuller-Christian disease «multifocal eosinophilic granuloma   causing skull lesions & affect younger groups»
    • Letterer-Siwe disease <rapidly progressive, pancytopenia, can be fatal>

    Horner Syndrome :

    • Consticted pupil « miosis »
    • Drooping eyelid « ptosis »
    • Unilateral loss of sweating « anhydrosis » on the face
    • Caused by interruption of symp.nerve fiber at the cevical ganglion

    Hurler Syndrome :

    • Mucopolysaccharides causing growth failure, mental retardation
    • Large head, frontal bossing
    • Multiple skeletal abnormalities
    • Serum & urinary acid mucopolysaccharides abnormalities

    Hypohydrotic ectodermal dysplasia :  

       –  Hypodontia

       –  Lack of hair (hypotrichosis)or sparse hair

       –  Decreased Sweating (hypohydrosis)

     

    Klippel-Feil anomalad :

    • Cervical vertebral fusion
    • Short neck
    • Low-lying posterior hairline
    • Some neurological anomalies

    Larsen syndrome : (Autosomal dominant condition)

    • Prediliction to females
    • Cleft palate
    • Flatenned facies
    • Deformities of feet
    • Short stature

    Lesch-Nyhan syndrome :

    Defect in purine metabolisim, causing :

    • Mental retardation
    • Cerebral palsy
    • Self mutilating behaviour (particularly lips)

    MAGIC Syndrome :

        – stands for Mouth And Genital ulcers & Interstitial chondritis

        – A varient of Behcets syndrome

    Marfan Syndrome :

    • Autosomal dominant condition
    • Tall-thin stature
    • Arachnodactyly « long-thin hands »
    • Aortic regurgitation & floppy mitral valve
    • Dislocation of the lens
    • High arched palate
    • Prelevant among basketball & volleyball players

    Melkerson-Rosenthal Syndrome :  (orofacial granulomatosis)

        –  Facial paralysis

        –  Facial oedema

        –  Fissured tongue

    Multiple endocrine neoplasia : ‘MEN’

    • Group of conditions affecting endocrine glands
    • Index of suspicion shold be : high in tall, thin, wasted-looking children & young adults with lumps in the mouth

    Orofacial-digital Syndrome :

    • One of many CLP syndromes
    • Hypodontia « especially laterals »
    • Supernumerary teeth
    • Digital « finger » abnormalities

    Papillon-Lefevre Syndrome :

    • Palmoplunter Hyperkeratosis 

        –   Juvenile periodontitis (prim.&perm. teeth)

    • Hyperkeratosis of palms and soles
    • Aggressive gingivitis, periodontitis  « after teeth eruption only »

    Patterson-Brown-Kelly Syndrome 

    « Plummer-Vinson Syndrome » : (a form of iron defiecency aneamia)

    • Dysphagia (due to atrophy of mucous membrane of mouth,pharnx, oesophygus)
    • Koilonychia « spoon nails »
    • Hyperkeratosis of palms & soles
    • Angular chelitis 

    Peutz-Jeghers Syndrome :

    • Autosomal dominant
    • Melantic pigmentation of skin « peri-oral » & mucosa
    • Intestinal polyps (small intestine) have no tendancy to malignant change (unlike Gardener syndrome)
    • 10% of women are affected

    Progeria :

    • Collagen abnormality
    • Causing Dwarfisim
    • Premature aging, death occurs in mid-teens
    • Disproportion between small face & beak-like nose

    Ramsay Hunt Syndrome :

    • Lower motor neuron facial palsy
    • Vesicles in the same side in face & pharynx
    • Thought to be due to heres Zoster

    Reiter Syndrome :

        –  Arthritis

        –  Urithritis

        –  Conjunctivitis

        –  Oral lesions which resemble benign migratory glossitis in appearance but affect other parts in the mouth   

    Robin Sequence « Pierre Robin » :

    • structures derived from 1st arch
    • Micrognathia (Mandibular hypoplasia)
    • Cleft palate
    • Eye & ear defects

    Romberg Syndrome « Hemifacial atrophy » :

        –  Atrophy of soft tissues of half of the face associated with contralateral

    Jacksonian epilepsy & trigeminal neuralgia

    Sicca Syndrome « 1ry Sjogren Syndrome » :

        –  Xerostomia

        –  Keratoconjunctivitis sicca « dry mouth, dry eyes »

        –  High risk of parotid lymphoma

    Sjogren Syndrome « 2ry Sjogren Syndrome » :

        –  Dry eyes & dry mouth

        –  Autoimmune condition « Rheumatoid arthritis + SLE »

    Stevens-Johnson syndrome :

    • Severe version of erythyma multiform
    • Mucocutaneous condition which is autoimmune in nature & preciptated by drugs or viral inf.
    • Concentric red rings affects hands and feet
    • Multiple mucosal involvement

    Stickler syndrome:

        –  Commonest syndrome with cleft palate (20%)

        –  Myopia & retinal detachment

        –  Flat mid face

        –  Hearing loss (80%) 30% of Robin sequence patients have Stickler synd.

    Sturge Weber syndrome:

    • Hamartomatous angioma affecting upper part of face associated Convulsions ( haemangioma in meningies causing mental defect )

    Treacher-Collins syndrome “mandibulofacial dysostosis” :

      Autosomal dominant triat (single-gene defect)

        (New mutation in 60% of cases)

    –   Defects in structures derived from 1st brancial arch

    –   Antimongoloid slant (downward sloping of palpebral fissures)

    –   Notching of lower eyelids

    • Mandibular retrognathia with high gonial angle
    • Hypoplastic air sinuses
    • Middle & inner ear deafness
    • 30% have Cleft palate
    • 25% have tongue-like projections of hair pointing towards the cheek

    Trotter Syndrome:

       –  Unilateral deafness

       –  Pain in mandibular division of trigeminal nerve

       –  Ipsilateral immobility of palate & trismus due to invasion of the lateral wall    of the nasopharynx by malignant tumor

    N.B: pterygopalatine fossa syndrome is similar condition in which 1st & 2ed divisions of the trigeminal are affected

    Von Recklinghausen neurofibromatosis Syndrome:

        (Autosomal dominant)

    • Multiple neurofibromas
    • Skin pigmentation
    • Skeletal abnormalities
    • CNS involvement
    • Predisposition to Malignancy

    Wiskott Aldrich Syndrome:

    • Immune deficiency with thrombocytopenia & Eczema
    • Although thymus is normal there is continuous decrease in T-lymphocytes. (Multiple infections)
    • Purpuric spots on oral mucosa
    • Eitiology: absence of sialoglycoprotien from the surface of lymphocytes    & platelets due to mutation of chromosome 16 

    Syndromes associated with Cleft lip and palate: (CLP)

                   –  Patau syndrome (Trisomy 13) multiple brain & other organs defect (early death) Up to 70% of cases with CLP

    Down syndrome (Trisomy 21) 1:200 patients with CLP

    • Gorlin-Goltz syndrome (5%)
    • Orofacial- Digital syndrome

    With Cleft Palate:

    • Stickler syndrome (20%)
    • Treacher-Collins syndrome (30%)
    • Robin sequence
    • Larsen syndrome

    Syndromes associated with Supernumerary teeth:

    • Cleidocranial dysostosis
    • Gardener syndrome
    • Orofacial- Digital syndrome

    Syndromes associated with Delayed eruption of teeth:

    • Cleidocranial dysostosis
    • Down syndrome (delayed eruption also associated with: – Cretinism – Rickets ”uncommon now”
    • Hereditary gingival fibromatosis
    • Cherubism

    Syndromes associated with Hypodontia:

    • Hypohydrotic ectodermal dysplasia
    • Down syndrome (one or more third molar are missed in 90%) 
    • Orofacial- Digital syndrome

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