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Syndrome Flashcards

1
Q

Eagle syndrome/stylohyoid/carotid artery

A

Enlogated styloid process or calcified stylohyoid ligament.
18-40 percent population. Vague facial pain on swallowing turning head and opening mouth.
Classical occur after tonsillectomy

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2
Q

Gorlin goltz / nevoid bcc syndrome

A

Mutation - PTCH GENE 9q chromosome
Multiple OKC
bifid rib
Multiple bcc
Palmer and planter pits
Lamellar calcification of falx cerebri
One of the first relation is also positive

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3
Q

Hand Schiller Christian disease ( langerhans cell histiocytosis) histiocytosis x

A

Bone lesions, exophthalmos, diabetes insipidus.
Floating teeth
Langerhans cells with birbeck granules

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4
Q

Kindler syndrome

A

Rare subtype of epidermolysis bullosa
Autosomal recessive congenital acral blistering
Photosensitivity
Poikloderma
Diffuse cutaneous atrophy
Mucosal manifestation including oral git

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5
Q

Rubenstein taybi syndrome

A

Talons cusp
Broad thumbs great toe
Characteristic facial features
Dealyed or incomplete descent of testes in male
Short stature

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6
Q

Mohr syndrome/oro facial digital syndrome

A

Talons cusp
Midline cleft lip
Fissured tongue/ poly lobulated
Additional digit/ polydactyly

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7
Q

Tricho dento osseous syndrome

A

Curly kinky hair
Taurodontism, enamel hypoplasia
Thickening of frontal bone

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8
Q

Focal epithelial hyperplasia/ hecks disease

A

Abnormal thickening of mucosa 10 times
HPV 13 &32
Severe acanthosis but no exophytic growth
H/F - Nuclear changes seen resembles mitosis
Cells infected by virus - mistoid cell

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9
Q

Pypstomatitis vegetans

A

O/m of crohn’s disease and ulcerative colitis
Cobblestone appearence
Cerebriform tongue

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10
Q

Cowden syndrome

A

Multiple harmatoma syndrome
PTEN GENE CHROMOSOME 10
Autosomal dominant

Facial trichilemmonas ( hair follicle like tissue)
Multiple papules and fibromas in oral cavity
Acral keratosis
Cns thyroid git mucoskeletal abnormalities
Considered as cutaneous marker in breast cancer

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11
Q

Melkersson rosenthel syndrome

A

Facial paralysis
Fissured tongue
Chelitis granulomatous

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12
Q

Pierre robin / bilateral TMJ syndrome

A

Bird face
Hypoplastic mandible
Cleft palate
Glossoptois
Obtuse gonial angle

Occurs isolated or with -

Stickler syndrome
Velocardiofacial syndrome
Treacher Collin
Foetal alcohol syndrome

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13
Q

Parry romberg syndrome

A

Facial hemiatrophy
Coup de sabre

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14
Q

Vander woude syndrome/ dimpled papillae of lip

A

Autosomal dominant
Irf 6 - 1q32. Genes get deleted
Grhl 3 grainy head like 3 17p11
Lip pits
Cleft lip/ palate

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15
Q

Syndrome a/w macroglossia

A

Down’s
Beckwith Weidman syndrome - organomegaly
Macroglossia
Red birthmark on forehead/ eyelid
Large size of new born

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16
Q

Treacher Collin / madibulofacial dysostosis / franchesti zwahlen Klein syndrome

A

Autosomal dominant
TCOF1 GENE
DECREASE neural crest cells migrating into developing cranio facial complex
1st and 2nd pharyngeal arch
Antimonglpid palpebral fissure
Coloboma of lower eyelid
Hypoplasia of facial bones especially malar and mandible ( bird like )
Malformation of external 👂
Macrostomia
High palate with or without cleft patr
Blind fistulas bte angle of ear & mouth
Atypical hair form
Facial clefts salivary gland aplasia
Sleep apnea

17
Q

Ascher syndrome

A

Acquired double lip
Blepherochalasis - drooping of the tissue btw the eyebrow and edge of upper eyelid.
Non toxic thyroid goitre

18
Q

Peutz jegher syndrome/ intestinal heriditery polyposis

A

Autosomal dominant
STK 11 GENE ( serine thionine kinase gene)
Perioral melanosis ( cafe au lait spots )
GIT POLYPS
CHANCE OF malingnancy× 15

19
Q

Marteaux lamy syndrome

A

Lysosomal storage disease
Type of mucopolysaccharides is type 4
Deficiency of enzyme - aryl sulphatase B
Collection of mucopolysaccharides
C/f - multiple/ bilateral dentigerous cysts
Stunted growth
No mental retardation
Constricted chests

20
Q

Sturge Weber syndrome

A

Port wine stain
Calcification of falx cerebri
Tram track appearence of skull

21
Q

Von recklinghausens disease of skim

A

Multiple neurofibromatosis
Type 1
Neurofibromim gene
Chromosome 17
Type 2
Chromosome 22 Merlin/schwannomin gene

C/F hangingass
Bag of worm appearance
Elephant man syndrome
H/f plexiform type
Cafe au lait spots
Freckles in axillary areas - crows sign
Melanocytic hamartosis - in eyes - lisch nodules
Optical gliomas

22
Q

Sarcoidosis / Bernier Boeck schaumann disease

A

Mutisystem. Lungs skin bones lymphnodes involved
Increase in ACE INHIBITORS
KVIEM SILTZBACK TEST - diagnostic test
H/F - noncaseating granulomas present
Langhams and foreign body giant cells
Inclusion bodies within giant cells - schauhann bodies ( basophillic lysosomal calcification
Star shaped asteroid bodies

23
Q

Heerfordt waldenstorm syndrome/ uveparotid fever

A

Type of sarcoidosis
Enlargement of parotid
Facial nerve paralysis
Inflammation of uveal tracts of eye

24
Q

Trotter syndrome/ Nasopharyngeal tumour

A

Pain in the region of trigeminal nerve
Pain in lower jaw tongue and side of head.
Middle ear deafness
Asssymetry and defective mobility of soft palate
Trismus of medical pterygoid

25
Q

Acrodynia/ pink disease/ Swift disease

A

Murcury toxicity
Chronic murcury exposure - infants and children<2 yrs
Tachycardia
Hypersalivation
Exfoliation of teeth
Metallic taste
Haairfall ( patches)

Triad of red painful desquamting fingers and toes ( pink disease
Hypertension
Neurological symptoms

Erythesim - neurological symptoms in adults in chronic hg poisioning
Mad as a hatter

26
Q

Plumbism

A

Lead poisioning
Peripheral neuritis - wrist drop and foot drop
O/m - burtonian line - pb sulphate, bluish blackish line on gingiva

27
Q

Raeders syndrome/ paratrigeminal syndrome

A

Pain in the region of 5th nerve
Ocular sympathetic paralysis

28
Q

Horner syndrome / sympathetic opthalmoplegia

A

Mitosis
Ptosis
Anhydrosis
Headache
In half of face

29
Q

Sphenopalatine neuralgia

A

A/w vidian nerve
Alarm clock headache
No trigger zones associated
Cluster headache

30
Q

Frey syndrome

A

Gustatory sweating
Diagnosis - minor strach iodine test

31
Q

Multiple sclerosis

A

A/w trigeminal neuralgia
Charcot’s Triad
1. Intentional tremors
2. Nystagmus
3. Dysarthia

32
Q

Marker’s jaw winking syndrome/ Trigeminal oculomotor synkinesis

A

Congenital unilateral ptosis
With rapid mandibular movement on contralateral side

33
Q

Marin amar syndrome/ inverted marus gun phenomenon

A

On mandible opening - eye closes
Usually seen after peripheral facial paralysis

34
Q

Hemifacial macrosomia

A

O ORBITAL DISTORTION
M mandibular hypoplasia
E ear anomaly
N nerve involvement
S soft tissue deficiency

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