Syndromes of the head and neck Flashcards
POLYOSTOTIC FIBROUS DYSPLASIA - MULTIPLE BONES AFFECTED
CAFE AU LAIT SPOTS - PATCHY SKIN PIGMENTATION
ENDOCRINE ABNORMALITIES (PRECOCIOUS PUBERTY IN GIRLS)
FACIAL ASYMMETRY 25% OF CASES
Albright syndrome (McCune - Albright syndrome )
RARE DEVELOPMENTAL DISORDER
CRANIOSYNTOSIS - PREMATURE FUSION OF CRANIAL SUTURES
SYNDACTYLY - FUSION OF FINGERS AND TOES.
SEVERE MIDFACE RETRUSION LEADS TO EXOPHTHALMOS
EARLY SURGICAL INTERVENTION TO PREVENT BLINDNESS FROM SUBLUXATION OF THE GLOBE OF EYE
APERT SYNDROME
EXOMPHALOS MACROGLOSSIA GIGANTISM ADRENAL AND RENAL ABNORMALITIES HYPOGLYCEMIA TONGUE REDUCTION MAYBE REQUIRED
BECKWITH - WIEDEMANN SYNDROME
ORAL ULCERS WITH TWO OF SKIN LESIONS
UVEITIS
GENITAL ULCERS
BLISTERING OF SKIN WHEN CANNULATED
MULTISYSTEM DISEASE OF IMMUNOLOGICAL ORIGIN
TREATMENT : AZATHIOPRINE, CYCLOSPORIN, THALIDOMIDE
BEHCET’S DISEASE
MAXILLONASAL DYSPLASIA
MIDFACIAL RETRUSION
ABSENT OR HYPOPLASTIC FRONTAL SINUSES
NO ASSOCIATED INTELLECTUAL DEFECT
BINDER SYNDROME
MASSIVE CERVICAL SWELLING RESEMBLING LYMPHOMA BUT NO IDENTIFIABLE MALIGNANT CELLS
SOME VARIANTS ARE BENIGN, SOME CONSIDERED PREMALIGANT
BENIGN GIANT LYMPHNODE HYPERPLASIA - ANOTHER NAME
CASTLEMAN SYNDROME
DEFECTIVE NEUTROPHIL FUNCTION ABNORMAL SKIN PIGMENTATION INCREASED SUCEPTIBILITY TO INFECTIONS SEVERE GINGIVITIS, PERIODONTITIS AND APTHAE IN YOUNG CHILDREN) GENETIC
CHEDIAK HIGASHI SYNDROME
DYSPLASIA OR APLASIA OF THE CLAVICLE
DELAYED OSSIFICATION OF CRANIAL FONTANELLES
LARGE SHORT SKULL
SHORTNESS OF STRATURE, FRONTAL AND PARIETAL BOSSING
FAILURE TO PNEUMATISE SINUSES
HIGH ARCHED PALATE OR CLEFTING
FAILURE OF TOOTH ERUPTION & MULTIPLE SUPERNUMERARIES, DILACERATED ROOTS AND GEMINATION OF CROWNS
HYPOPLASIA OF CEMENTUM
AFFECTS MEMBRANOUS BONE
CLEIDOCRANIAL DYSOSTOSIS (CLEIDOCRANIAL DYSPLASIA)
CHROMOSOMAL ABNORMALITY - CAUSED BY DEPLETION OF SHORT ARM OF CHROMOSOME 5 RESULTING IN -
MICROCEPHALY
HYPERTELORISM
ROUND FACE WITH BROAD NASAL BRIDGE
MALFORMED EARS
ASSOCIATED LARYNGEAL HYPOPLASIA - SHRILL CRY
INTELLECTUAL DISABILITY
“CRI DU CHAT” SYNDROME
COMMONEST CRAINIOSYNTOSIS
AUTOSOMAL DOMINANT - PREMATURE FUSION OF CRANIAL SUTURES
MIDFACE HYPOPLASIA CAUSES SHALLOW ORBITS AND PROPTOSIS OF THE GLOBE OF THE EYE
RADIOGRAPHICALLY - BEATEN COPPER SKULL
ENLARGING BRAIN TRAPPED IN FUSED SUTURES - CEREBRAL DAMAGE - SURGERY INDICATED TO PREVENT THIS
CROUZON SYNDROME
COMMONEST OF ALL MALFORMATION SYNDROMES, AFFECTING 1:1600
RISK WITH MATERNAL AGE
FACE - BRACHYCEPHALY WITH MID FACE RETRUSION
SMALL NOSE
FLATTENED NASAL BRIDGE
UPWARD FACING PALPEBRAL FISSURES - MONGOLOID SLANT
MACROGLOSSIA
DELAYED ERUPTION OF TEETH
MAJOR RELAVANT ASSOCIATION - HEART DEFECTS, ATLANTO AXIAL SUBLUXATION, ANAEMIA, INCREASED RISK OF LEUKEMIA
DOWN SYNDROME - TRISOMY 21
Dysphasia
Pain on chewing and turning due to elongated styloid process
Eagle syndrome
Inherited Hyper-flexibility of joints Increased bleeding and bruising Hyperextensible skin. Molecular abmormality of collagen in this disorder Bleeding common in type IV *Early onset periodontal disease in type VIII* *Pulp stones maybe seen in all types *
Ehler-Danlo’s syndrome
Gustatory sweating
Flushing of skin
Following Trauma to the skin overlying a salivary gland or superficial parotidectomy
Due to post traumatic cross over of sympathetic and parasympathetic innervation of grand to skin
Iodine starch test
Frey syndrome
Multiple osteomas in jaws and facial bones Multiple polyps of large intestines Epidermoid cysts Fibromas of skin Autosomal dominance inheritance X rays reveal facial osteomas Polyps have a tendency to have malignant change Worthwhile syndrome
Gardener syndrome
Variant of hemifacial microsomia Microtia - small ears Macrostomia Agenesis of mandibular Ramus and condyle Vertebral abnormalities - hemivertibrae Epibulbar dermoids Cardiac, renal and skeletal abnormalities can occur May have intelectual disability
Goldenhar syndrome
Multiple basal cells ( epitheliomas)
Multiple jaw cysts - odontogenic keratocysts
Vertebral and rib abnormalities
Calcification of falx cerebri
Frontal bossing and mandibular prognathism
Hypertelorism, hydrocephalus and eye and endocrine abnormalities
Gorlin- Goltz syndrome - multiple basal cell naevus syndrome
Autoantibodies to TSH cause hyperthyroidism with ophthalmopathy
Women - 30-50 years
Exopthalmos
Graves’ disease
Sarcoidosis with associated lacrimal and salivary - parotid swelling, uveitis, fever
Associated neuropathies - facial palsy
Heerfordt syndrome (uveoparotid fever)
Prevalence - 1:5000 births
Bilateral 20% of cases
Congenital defect characterised by lack of hard and soft tissue on affected side
Usually in the ramus and external ear - first and second branch oak arches)
Wide spectrum of ear and cranial deformities
Hemifacial microsomia
Three broad groups of histological tissue infiltration of tumour like aggregates of macrophages (histiocytes) and eosinophils
- Solitary eosinophilic granuloma - males, mandible.
- Hand-schuller- Christian disease - multifocal eosinophilic granuloma, skull lesions, DI - younger age group.
- letterer-siwe disease - rapidly progressive, disseminated histocytosis, associated pancytopenia, multi system disease, fatal
Histiocytosis - X
Constricted pupil (miosis) Drooping eyelid (ptosis) Unilateral loss of sweating (anhidrosis) on face Sunken eye (enophthalmos) Cause - interruption of sympthatetic nerve fibres at cervical ganglion 2* to bronchogenic carcinoma, invading the neck ganglion or neck trauma. High on worthwhile
Horner syndrome
Mucopolysaccharidosis causing growth failure and intellectual disability
Large head, frontal bossing,
Hypertelorism
Coarse features
Multiple skeletal abnormalities (dysostosis multiplex)
Corneal clouding and serum and urinary acid mucopolysaccharide abnormalities occur
Hurler syndrome
Hypodontia
Lack of hair, sweating and saddle nose
Hypohydrotic ectodermal dysplasia
Affects children <5 years Pyrexia Rash Cervical lymphadenopathy Dry cracked lips Red eyes, fingers and toes Arteritis - serious complication Rx - Immunoglobulin + aspirin in hospital
Kawasaki disease
Kikuchi disease
Histiocytic necrotising lymphadenitis
Increasing cause of lymphadenopathy
Associated - SLE And haemophagocytic syndrome
Kikuchi syndrome
The association of cervical vertebral fusion Short neck Low lying posterior hairline No. of neurological anomalies Unilateral agenesis - frequent Cardiac anomalies
Klippel-Feil anomolad
Autosomal dominant condition > females
Cleft palate, flattened facies, multiple congenital dislocations, deformities of feet
Short stature
Larynx maybe affected
Larsen syndrome
Defect of purine metabolism - causes intellectual disability
Spastic cerebral palsy
Choreoathetosis
Aggressive self mutilating behaviour - particularly involving the lips
Lesch-Nyhan syndrome
Stands for Mouth and Genital ulcers and intestinal chondritis
Variant of Behcet syndrome
MAGIC SYNDROME
Also known as jaw wink syndrome
Unilateral ptosis which opens (not winks) on moving the jaw to the contralateral side
Marcus Gunn syndrome
Autosomal dominant condition - tall thin stature and arachnodactyly (long thin spider like hands )
Prevalent among top class basketball and volleyball players
Dislocation of the lens
Dissecting aneurysms of the thoracic aorta
Aortic regurgitation
Floppy mitral valve and high arched palate
Joint laxity is common
Marfan syndrome
Facial paralysis
Facial edema
Fissured tongue
Variant of the group of conditions known as orofacial granulomatosis
Melkerson-Rosenthal syndrome
Effects endocrine glands
MEN IIb - multiple mucosal neuromas - ch histopathology
Phaechromocytoma
Medullary thyroid sarcoma
Thin wasted appearance
Index of suspicion - thin, wasted looking children and adults with lumps in mouth
Biopsy is mandatory
Multiple endocrine neoplasia
One of the many CLP syndromes
associated with hypodontia - especially laterals 
And supernumeraries
One finger abnormalities
Orofacial Digital syndrome
Palmoplantar hyperkeratosis - hyperkeratosis of palms and soles
Juvenile periodontitis - affects both dentitions
Normal dental development occurs until the appearance of hyperkeratosis of palms and soles and then aggressive gingivitis and periodontitis begin.
Papillon- Lefevre syndrome
Middle aged women Dysphagia - due to post cricoid web - a membrane on the anterior oesophageal wall which is malignant Microcytic hypochromic anaemia Koilonychia (spoon shaped nails) Angular cheilitis Correction may relieve symptoms
Patterson-Brown-Kelly syndrome (Plummer Vinson syndrome)
Autosomal dominant condition of melanotic condition of skin
Especially peri oralskin and mucosa and intestinal polyposis - no propensity to malignant change
Found in small intestine
Causes gut obstruction
Ovarian rumours associated with this condition (10% women with the condition)
Peutz-Jehgers syndrome
Collagen abnormality
Dwarfism and premature ageing
Disproportionately small face with mandibular retrognathia and beak like nose
Death occurs in mid teens
Progeria
Micrognathia and hyperplasia of mandibular angle
Exophthalmos, dwarfism
Short fingers
Osteoporosis
Pycnodysostosis
Lower motor neurone facial palsy with vesicles on the same side in the pharynx, external auditory canal and on the face.
Due to herpes zoster of genticulate ganglion
Ramsay hunt syndrome
Arthritis
Urethritis
Conjunctivitis
Frequently oral lesions resembling benign migratory glossitis but affects other parts of the mouth
Due to unwanted effect of immune response to low grade pathogen
Some believe - STD
Reiter syndrome
Not a head and neck syndrome
Encephalopathy and fatty degeneration - lethal
Probable association with asprin and viral illness in children - reason why asprin is CI in children
Reye’s syndrome
Named after Pierre robin Micrognathia Cleft palate Glossoptosis Huge number of associated anomalies
Robin sequence
Progressive atrophy of soft tissues of face
Contralateral Jacksonian epilepsy and trigeminal neuralgia.
Rarely half of the body maybe effected
Starts In first decade - lasts 3 years before it becomes quiescent
Romberg syndrome (hemifacial atrophy)
Xerostomia
Keratoconjunctivitis sicca i.e. dry mouth and eyes
Increased risk of developing parotid lymphoma
Although it has serological abnormalities with systemic connective tissue disorders like RA, it does not have any sypmtomology (unlike Sjögren’s syndrome)
Sicca syndrome (primary Sjögren’s syndrome)
Painless facial asymmetry
Diplopia
Enophthalmos
Spontaneous collapse of maxillary sinus (and hence orbital floor which is its roof )
Associated with negative pressure - presumed to be due to failure of ventilation at the osteomeatal complex - needs to be surgically opened
Silent sinus syndrome
In addition to dry eyes and mouth - serology and symptomology of autoimmune condition - usually RA, Sometimes SLE, Systemic sclerosis or 1* biliary cholangitis
Actual swelling of salivary gland is uncommon
Late onset swelling of parotids may herald the presence of lymphoma
Sjögren’s syndrome (secondary Sjögren’s syndrome)
Severe version of erythema multiforme - a mucocutaneous condition - probably autoimmune in nature and precipitated particularly by drugs
Classical signs - target lesions, concentric red rings affecting hands and feet
Said to be present when condition is severe
Fever and multiple mucosal involvement
HSV 1 - commonest cause
Steven Johnson’s syndrome
Commonest syndrome associated with cleft palate
Flat Mid face, cleft palate
Myopia retinal detachment
Hearing loss
Arthropathy
30% of robin sequence patients have this condition - therefore examine eyes
Stickler syndrome
Port wine stain on forehead
Due to hamartomatous angina affecting upper part of face - may extend intra cranially
Maybe associated convulsions
Hemiplegia on the contralateral side of the body
Intellectual impairment
Sturge- Weber syndrome
Involves defects in structures derived from the first branchial arch
Inherited autosomal dominant trait
Downward sloping of palpebral fissures - antimongoloid slant)
Hypoplastic malar complexes
Mandibular retrognathia with high gonian angle, deformed pinnas, hypoplastic air sinuses , colobomas of outer eye
Middle and inner ear hypoplasia - deafness
30% - cleft palates
25% - unusual tongue like projections pointing towards cheek
Normal intellectual function - which maybe missed because they are deaf and funny looking kids
Treacher Collins syndrome (Mandibulofacial dysostosis)
Unilateral deafness
Pain in the mandibular division of trigeminal nerve
Ipsilateral immobility of palate
Trismus - due to invasion of lateral wall of nasopharynx by malignant tumour
Pterygopalatine fossa syndrome is a similar condition where first and second divisions of trigeminal are affected
Trotter syndrome
1-2% of cleft patients Lip pits -small sinuses to minor salivary glands Associated with cleft lip or palate Second premolars missing in 10-20% Autosomal dominant
Van der woude syndrome
Multiple neurofibromas with skin pigmentation
Skeletal abnormalities
CNS involved
Predisposition of malignancies are basics of this syndrome
Von Recklinghausen/ neurofibrimatosis/ syndrome
