Syndromes of the head and neck Flashcards by Ophelia Saganti

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 )

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

EXOMPHALOS
MACROGLOSSIA
GIGANTISM
ADRENAL AND RENAL ABNORMALITIES
HYPOGLYCEMIA 
TONGUE REDUCTION MAYBE REQUIRED

BECKWITH - WIEDEMANN SYNDROME

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

MAXILLONASAL DYSPLASIA
MIDFACIAL RETRUSION
ABSENT OR HYPOPLASTIC FRONTAL SINUSES
NO ASSOCIATED INTELLECTUAL DEFECT

BINDER SYNDROME

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

DEFECTIVE NEUTROPHIL FUNCTION
ABNORMAL SKIN PIGMENTATION
INCREASED SUCEPTIBILITY TO INFECTIONS
SEVERE GINGIVITIS, PERIODONTITIS AND APTHAE IN YOUNG CHILDREN)
GENETIC

CHEDIAK HIGASHI SYNDROME

How well did you know this?

Not at all

Perfectly

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)

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

Dysphasia

Pain on chewing and turning due to elongated styloid process

Eagle syndrome

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

Autoantibodies to TSH cause hyperthyroidism with ophthalmopathy
Women - 30-50 years
Exopthalmos

Graves’ disease

How well did you know this?

Not at all

Perfectly

Sarcoidosis with associated lacrimal and salivary - parotid swelling, uveitis, fever
Associated neuropathies - facial palsy

Heerfordt syndrome (uveoparotid fever)

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

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

Study These Flashcards

Hurler syndrome

Hypodontia

Lack of hair, sweating and saddle nose

Study These Flashcards

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

Syndromes of the head and neck Flashcards

(55 cards)