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Fellowship and boards study > Dz highlights > Flashcards

Dz highlights Flashcards

1
Q

Parry-Romberg

A

idiopathic unilateral atrophy of the face

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2
Q

Churg Strauss

A
  • autoimmune dz
  • allergic like symptoms
  • eosinophilic vasculitis, necrotizing granulomas(like wegners but with eos)
  • serum eosinophilia
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3
Q

Oral-facial-digital syndromes

A
  • Oral: MEDIAN clefts, Hypodontia, Tissue overgrowth: thickened clefts, lumpy tongue, High arch palate
  • Facial: ASymmetry, small lower jaw, wide spaced eyes, wide bridge of nose, Hair loss, milia
  • Digital: short, webbed, bent, extra digits
  • Mental retardation, seizures etc
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4
Q

Caffey disease

A

aka infantile cortical hyperostosis
Occurs in a baby, usually resolves by 2
-excessive new bone formation: hyperostosis
-Swelling of the soft tissues with pain and redness
-Irritability and fever
-autosomal dom

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5
Q

Marfan syndrome

A
  • Marfanoid body habitus: they show fingers of one hand wrapping around the wrist of the other hand to demonstrate characteristic elongated fingers
  • cardiovascular problems
  • vision problems: blue sclera
  • multiple syringomas: usually eyes or eyelids
  • over production of TGF-beta
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6
Q

Castleman disease

A
  • Fever, weight loss, night sweats

- LAD (can be one lymph node or multicentric form)

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7
Q

Kikuchi disease

A
  • mild fever, night sweats, lymphadenopathy of the neck

- BX shows necrotizing lymphadenitis

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8
Q

Rosai Dorfman disease

A

Painless lymph node enlargement

-BX: histiocytes with emperiopoiesis

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9
Q

Kawasaki disease

A
  • Extremely red eyes
  • rash
  • dry, cracked lips
  • extremely red, swollen tongue
  • Swollen, red skin on the palms of the hands and the soles of the feet
  • Swollen lymph nodes in the neck and perhaps elsewhere
  • Peeling skin
  • abdominal pain
  • Causes inflammation of the arteries that can lead to heart problems
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10
Q

Lemierre Syndrome

A
  • Oropharyngeal infection leading to secondary septic thrombophlebitis
  • Org: Fusobacterium necrophorum
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11
Q

Wilsons disease

A

excess copper in the body

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12
Q

Kimura disease

A
  • subcutaneous mass in the head and neck region
  • regional LAD
  • peripheral eosinophilia, serum IgE
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13
Q

Freys Syndrome

A
  • Surgery complication or injury in the area of parotid gland
  • sweating or flushing on cheek/temple when eating intense flavors
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14
Q

Riley-Day syndrome

A

aka familial dysautonomia (auto recessive)

  • Congenital indifference to pain
  • Dystonia
  • smooth tongue devoid of fungiform papillae and of taste buds
  • drooling
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15
Q

Black foot disease

A

arsenic poisoning

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16
Q

Nevoid basal cell carcinoma syndrome

A
  • Calcified falx cerebri
  • Pitting of palms and soles
  • OKCs
  • BCCs
  • bifid ribs
  • characteristic facies
  • ovarian and cardiac fibromas
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17
Q

Van buchem disease

A

Similar to sclerosteosis

-hyperostosis of the skull, mandible, clavicles, ribs, and diaphyseal cortices of the long bones.

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18
Q

Cleidocranial dysplasia

A

Hypoplastic clavicles
wormian bones
multiple supernumerary teeth
acute gonial angle of the mandible

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19
Q

Pagets

A
  • Second most common metabolic bone dz
  • elevated ALK phos
  • deafness and visual impairment can occur
  • leontiasis ossea
  • osteoporosis circumpscripta
  • cotton wool bone
  • Jigsaw on histo
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20
Q

Noonan syndrome

A
  • Multiple giant cell lesions
  • Short stature
  • ocular hypertelorism
  • pulmonic stenosis
  • webbed neck
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21
Q

Ramon syndrome

A
  • cherubism-like lesions
  • gingival fibromatosis
  • hypertrichosis
  • epilepsy
  • mental retardation
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22
Q

Jaffe-Lichentenstein

A

polyostotic FD

cafe au lait

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23
Q

Mazabraud

A

intramuscular myxomas

polyostotic FD

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24
Q

McCune Albright

A
  • Cafe au lait
  • polyostotic FD
  • Endocrine abnormalities
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25
Q

Familial gigantiform cementoma

A
  • Cemento-osseous proliferations that involved multiple quads of the jaw
  • true neoplasms that require resection
  • inherited auto dom
  • **Females need gyn exam, associated with uterine adenomas
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26
Q

Gnatho-diaphyseal dysplasia

A
  • Diffuse fibrosseous lesions of jaws with psammoma bodies
  • bowing of cortical bones
  • bone fragility
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27
Q

Hyperparathyroidism jaw tumor syndrome

A

Parathyroid adenoma or carcinoma
Ossifying fibromas of the jaws
Renal cysts
Wilms tumors

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28
Q

Gardner’s syndrome

A

-multifocal osteomas
-adenomatous intestinal polyps
-odontomas
-supernumerary teeth
-epidermoid cysts
-desmoid tumors
-nasopharyngeal angiofibromas
-pigmented lesion of the ocular fundus
other malignancies: thyroid carcinoma, pancreatic adenocarcinoma, adrenal adeno etc

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29
Q

Ollier disease

A

sporadic chondromatosis with unilateral tendency

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30
Q

Maffuci syndrome

A
  • Chondromatosis

- soft tissue angiomas

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31
Q

Li-fraumeni syndrome

A

-Inherited familial disposition to cancer
SBLA: sarcoma(osteosarcoma), breast cancer, leukemia, adrenal cancer
-Mut TP53; also CHEK2

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32
Q

Rothmund-Thomson syndrome

A

-melanin pigmentation of the oral cavity
-Hypodontia
-Osteosarcoma risk
-Actinic keratosis and other non-melanoma skin cancer
Eyes: cataracts

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33
Q

Neurofibromatosis type 2

A
  • Bilateral acoustic neuromas

- Meningiomas and gliomas of the CNS

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34
Q

Neurofibromatosis type 1 (major criteria)

A
  • 6+ cafe au lait macules, >5mm prepuberty, >15mm postpuberty (Coast of california)
  • 2+ neurofibromas or 1+ plexiform type
  • Axial and inguinal freckling (Crowes sign)
  • Optic glioma
  • 2+ lisch nodules
  • Distinctive osseous lesion (sphenoid dysplasia, thinning of long bone)
  • First degree relative with NF1
  • Also get paragangliomas
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35
Q

MEN1

A
  • Endocrine tumors: parathyroid, pancreatic, pituitary
  • Tumors are benign
  • MEN1 gene not RET
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36
Q

Sipple syndrome

A

aka MEN2A

  • Medullary thyroid carcinoma, pheochromocytoma, parathyroid hyperplasia
  • paragangliomas
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37
Q

MEN2B

A
  • Marfanoid body habitus
  • Mucosal neuromas
  • Pheochromocytoma
  • Medullary thyroid carcinoma
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38
Q

Von-Hippel lindau

A

Hereditary syndrome associated with tumors arising in multiple organs. Includes paragangliomas, pheochromocytomas (HTN), pancreatic tumors, liver tumors etc
- most tumors are benign but can be malignant

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39
Q

PHACES syndrome

A 
Posterior fossa brain abnormalities
Hemangiomas
Arterial anomalies
Cardiac defects
Eye anomalies
Sternal cleft
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40
Q

Dermatosis papulosa nigra

A

Multiple waxy/stuck-on appearing papules in the zygomatic/oribtal area most commonly
-lesions are sebks

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41
Q

Muirr-Torre syndrome

A
  • Sebaceous adenomas and carcinomas
  • Multiple keratoacanthomas
  • Internal malignancy: most commonly colorectal carcinoma
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42
Q

Lentiginosis profusa

A

numerous lentigenes without other abnormalities

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43
Q

Noonan syndrome with multiple lentigenes

A 
aka LEOPARD syndrome (previously)
Lentigenes
ECG abnormalities
Ocular hypertelorism
Pulmonary stenosis
Abnormal genitalia
Retarded growth
Deafness
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44
Q

Ferguson-Smith

A
  • Inherited
  • Multiple self healing squamous epitheliomas (MSSE)
  • KAs
  • Scottish descent
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45
Q

Witten-Zak

A
  • Inherited

- Multiple KAs

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46
Q

Gryzbowski syndrome

A
  • Acquired
  • hundreds to thousands of KAs of skin and GI mucosa
  • may be associated with internal malignancy
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47
Q

Plummer-Vinson syndrome (Paterson-Kelly syndrome)

A 
Dysphagia
Iron-deficiency anemia
Esophageal webs
Koilonychia (spoon shaped nails)
Patients predisposed to esophageal cancer
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48
Q

Fanconi Anemia

A

Short stature
Aplastic anemia
increased risk of oral SCC
deafness

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49
Q

Nevoid basal cell carcinoma syndrome

A 
>5 BCCs (before 30)
>2 Palmar and plantar pits
OKCs
1st degree relative
calcified falx
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50
Q

Rombo syndrome

A
  • BCCS
  • Milia
  • telangiectasia
  • reticular pattern of skin atrophy
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51
Q

Bazex-Christol-Dupre syndrome

A
  • BCCs
  • milia
  • hypohydrosis
  • hypotrichosis
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52
Q

Dowling-Meara subtype of epidermolysis bullosa simplex:

A
  • BCCs

- rare severe blistering disease

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53
Q

Hemifacial microsomia

A

congenital condition in which one side of the lower face is underdeveloped
-usually affects ear and mouth on that side

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54
Q

Lacrimo-auriculo-dento-digital syndrome (LADD)

A

lacrimo: defect in lacrimal apparatus
auriculo: cup shaped and hearing loss
dento: hypodontia, microdontia
digital: digital abnormalities- missing/fused

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55
Q

Brooke-Spiegler syndrome

A

Cylindromas
Trichoepitheliomas
Spiradenomas
(maybe membranous type of basal cell adenomas)

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56
Q

Sickle cell anemia

A
  • Hemoglobinopathy
  • Glutamic acid –> valine = Hemoglobin S instead of Hemoglobin A
  • acute chest syndrome: component of sickle cell crisis
  • susceptible to infection (early splenic destruction) –> strep pneumoniae, children prophylaxis with penicillin until age 5
  • hair on end skull radiograph
  • Oral: reduced trabecular pattern, aseptic pulpal necrosis, increased risk of osteomyelitis
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57
Q

Cooley’s anemia

A
  • aka Beta thalassemia major
  • both copies of gene for beta subunit of hemoglobin are mutated
  • severe microcytic, hypochromic anemia
  • Compensate: massive marrow hyperplasia, hepatosplenomegaly, LAD = CHIPMUNK facies
  • Hair on end skull pattern
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58
Q

Hydrops fetalis

A
  • build up of fluid around the internal organs and in the skin that is life threatening
  • Causes: liver disease, severe anemia (particularly mentioned in alpha thalassemia with all 4 genes deleted), heart and lung defects
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59
Q

Schwachman-Diamond syndrome

A
  • inherited bone marrow failure syndrome

- poor growth/skeletal abnormalities

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60
Q

Cartilage-hair syndrome

A
  • dwarfism
  • hypotrichosis
  • immune deficiency aka neutropenia
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61
Q

Kostmann syndrome

A
  • congenital neutropenia disorder (<500 cells/mm3)

- frequent recurrent bacterial infections

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62
Q

Polycythemia vera

A
  • conditions where you make too many RBCs, and to a lesser degree too many WBCs and platelets caused by an acquired JAK2 mut
  • Erythromelalgia (pain, burning, redness of hands and feet)
  • generalized pruritis without rash
  • treated with phlebotomy
  • 2-10% develop acute leukemia
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63
Q

Myelophthisic anemia definition

A

When a malignant proliferation crowds out the normal bone marrow resulting in decreased RBCs, platelets, WBCs

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64
Q

Hand-Schuller-Christian disease

A

chronic disseminated histiocytosis- bone, skin and visceral involvement

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65
Q

Bloom syndrome

A
  • inherited
  • Elevated risk for non-hodgkin lymphoma
  • immune deficiency; susceptible to infection
  • short stature
  • butterfly rash after sun exposure
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66
Q

Wiskott-Aldrich syndrome

A
  • eczema
  • immune deficiency
  • thrombocytopenia
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67
Q

Sezary syndrome

A
  • aggressive form of mycosis fungoides
  • *atypical lymphocytes in peripheral blood
  • generalized exfoliative erythroderma
  • LAD
  • hepatosplenomegaly
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68
Q

Sweet syndrome

A
  • inflammatory skin condition
  • may be triggered by an infection, illness, though not well known
  • sudden onset of fever and painful rash on the arms, legs, trunk, face, or neck
  • also known as acute febrile neutrophilic dermatosis
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69
Q

MAGIC syndrome

A

mouth and genital ulcers with inflamed cartilage

-combo of behcets and relapsing polychondritis

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70
Q

PFAPA syndrome

A

-Shown on a spectrum between aphthough stomatitis and behcets syndrome
Periodic Fever
Aphthous stomatitis
Pharyngitis
Adenitis
-Occurs in children typically under 5 in the absence of cough rhinitis etc.
-Normal growth and development

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71
Q

Behcet syndrome

A

-3rd to 4th decade
- more common in men
- HLA predisposition B51
-Major critieria: oral
Minor criteria: genital, ocular inflammation and vasculitis, positive pathergy test

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72
Q

Lofgren syndrome

A
  • erythema nodosum
  • bilateral hilar LAD
  • arthralgia
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73
Q

Heerfordt syndrome

A
  • Anterior Uveitis
  • Parotid swelling
  • fever
  • facial paralysis
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74
Q

Melkersson-Rosenthal syndrome

A
  • Orofacial granulomatosis
  • Fissured tongue
  • Facial paralysis
75
Q

Acquired angioedema AAE

A
  • acquired deficiency of C1 inhibitor (C1-INH)
  • hyperactivation of the classical pathway of human complement
  • recurrent angioedema
76
Q

Molar incisor hypoplasia (MIH)

A

hypomineralization of 1 or more 1st perm molars

77
Q

Muccopolysaccharidoses

A
  • cant break down GAGs
  • multiple impacted teeth with large follicles
  • macroglossia
  • gingival hyperplasia
  • cloudy degeneration of the cornea
  • macrocephaly
  • markedly reduced stature
78
Q

Ellis-van crevald

A
  • Natal teeth
  • Median cleft of the upper lip
  • associated with taurodontism
  • polydactyl
  • dwarfism
79
Q

otodental syndrome

A
  • globodontia both primary and permanent dentition
  • sensorineural hearing loss
  • colombomas
  • odontomas
80
Q

oxalosis

A
  • rare metabolic disorder in which the kidneys are unable to eliminate calcium oxalate crystals through the urine
  • also causes premature attachment loss
81
Q

Chediak-Higashi syndrome

A
  • immune disorder: increased susceptibility to infections, recurrent bacterial infections
  • loss of pigment in the skin and eyes aka oculo-cutaneous albinism
  • premature tooth attachment loss
  • bruise and bleed easily
82
Q

Caldwell syndrome

A

AKA acquired angioedema

  • C1-INH deficiency that occurs as a result of lymphoproliferative disorder
  • C1-INH deficiency from any cause leads to angioedema
83
Q

Hypohidrotic ectodermal dysplasia

A
  • X-linked
  • heat intolerance
  • fine sparse hair
  • hypoplastic salivary glands
  • dystrophic brittle nails
  • oligo/hypo dontia (conical incisors)
  • females are less affected due to Lyon hypothesis
84
Q

Witkop-von sallman

A

HBID

  • North carolina
  • develops in childhood
  • gelatinous plaques of the bulbar conjunctiva (progress and regress seasonally)
  • oral plaques that look like WSN and leukoedema
  • cell within a cell phenomenon
85
Q

Pachyonychia congenita

A 
keratins 6a, 6b, 16, 17
-hoarseness
-hyperkeratosis of palms and feet
-hyperhidrosis
-punctate papules of the skin
-traumatized oral surface develop leukoplakic lesions that are benign
-neonatal teeth in keratin 17
-perinuclear clearing
TX: retinoids
86
Q

Cole-engman syndrome

A

aka Dyskeratosis congenita

  • thrombocytopenia –> aplastic anemia
  • oral leukoplakias are precancerous
  • reticular pattern of the skin and hyperpigmentations
  • dysplastic nails
  • tongue and buccal mucosa develop bullae –> erosions –> leukoplakias
  • intellectual disability
87
Q

Xeroderma pigmentosum

A
  • mutation in DNA repair machinery

- propensity to develop non-melanoma skin cancer by teenage years

88
Q

Carney complex syndrome

A
  • multiple benign tumors including psamommatous melanocytic schwannomas
  • abnormalities in skin coloring
  • pigmented oral mucosa lesions
89
Q

Jones-Hartfield syndrome

A

Gingival fibromatosis

sensorineural hearing loss

90
Q

Hereditary mucoepithelial dysplasia

A
  • photophobia and cataracts
  • coarse hair
  • alopecia
  • perineal rash
  • pulmonary complications
  • asymptomatic fiery red lesion of the palate
91
Q

Bloch-Sulzberger syndrome

A

AKA Incontinentia pigmenti

  • female predilection 37:1 because X linked dom and lethal for most males
  • Skin lesions: vesicular –> verrucous –> hyperpigmentation –> atrophy, depigmentation
  • ocular problems
  • CNS abnormalities: seizures, ID
  • oral: small cone shaped teeth, oligodontia, delayed eruption
92
Q

Darier’s disease

A
  • pitting of the palms and soles
  • longitudinal lines, splits and ridges of the nails: called candy cane nails
  • widespread erythematous pruritic papules
  • palatal lesions can look like inflammatory papillary hyperplasia or nicotine stomatitis
  • recurrent obstructive parotid swelling
93
Q

Peutz-Jeghers

A

-melanocytic lesions of skin and mouth
-intestinal polyps, hamartomatous
-predisposition towards cancer 10-18x
50% of women develop breast cancer by 50

94
Q

Osler-weber-rendu syndrome

A

aka hereditary hemorrhagic telangiectasia

  • typical presenting sign: recurrent bouts of epistaxis
  • numerous vascular hamartomas
  • AV fistulas: lungs, liver, CNS
  • numerous telangiectasia of the oral mucosa, lower GI mucosa etc
  • GI mucosal lesions may bleed and cause iron def anemia
  • ***antibiotic prophylaxis for patients with AV fistula of the lung in order to prevent brain abscess
95
Q

CREST syndrome

A

calcinosis cutis, Raynaud, esophageal dysfunction, syndactyly, telangiectasia
- can look like HHT but will have positivity for anti-centromere antibodies

96
Q

Reactive arthritis

A
  • Triggered by venereal disease or dysentery
  • HLA-B27 predisposes the patient
  • Non-gonococcal urethritis
  • arthritis
  • conjunctivitis
  • balanitis circinata
  • Aphthous stomatitis
97
Q

Chronic ulcerative stomatitis

A

-Women in the 6th decade
-looks like LP but doesn’t respond to steroids
-autoantibodies to an isoform of p63 ΔNp63α
-Indirect IF stratified epithelium-specific antinuclear
antibodies (ANAs)

98
Q

Goltz-Gorlin/Goltz syndrome/focal dermal hypoplasia

A
  • patchy dermal hypoplasia aka blaschkows lines
  • warty like papilloma lesions of skin and mucous membranes
  • microopthalmia, coloboma
  • syndactyl, brachydactyly etc
  • hypodontia
  • osteopathia striata
  • spare brittle hair
99
Q

Cannon disease

A

aka white sponge nevus

  • Keratins 4/13
  • genodermatoses
  • Bilateral buccal mucosa and other sites with thick white plaques that are present since birth or shortly after
100
Q

Ehlers-Danlos syndrome

A
  • marked periodontal disease at a young age
  • Gorlin sign
  • easy bleeding/bruising
  • tendency for subluxation of the TMJ
  • papyraceous healing: skin looks like cigarette paper upon healing
101
Q

Tuberous sclerosis

A

aka Bourneville-Pringle or Epiloia

  • Shagreen patches
  • Ash leaf spots
  • Cardiac rhabdomyoma
  • Renal angiomyolipoma
  • gingival fibromas, diffuse fibrous enlargement, enamel pitting
  • *radiolucencies in the jaw that are fibrous tissue on bx
  • facial angiofibromas
  • peri and ungal fibromas
  • CNS: seizures, ID
  • Subependymal giant cell astrocytoma
102
Q

Multiple hamartoma syndrome

A

aka PTEN syndrome, Cowden syndrome
Defining features: Multiple facial trichilemmomas, Multiple oral papules, Acral keratoses (2/3 for dx)

ALSO:

  • Periodontal disease
  • lipomas, neuromas, hemangiomas
  • fibrocystic disease of the breast
  • Predisposition for breast cancer by age 40
  • Female GU tumors
103
Q

Epidermolysis bullosa

A

-Simplex, junctional, dystrophic, kindler syndrome
Simplex = mild
Junctional= death at birth
dystrophic = variable but can be very severe
-mitten-like deformity
-microsomia from scarring
-recessive dystrophic type more prone to cutaneous SCC

104
Q

Angina bullosa hemorrhagica

A
  • Older predominantly female patients
  • subepidermal blister
  • blood filled blisters rupture and heal without scarring
  • associated with trauma or corticosteroid use
105
Q

Systemic lupus erythematosus

A
  • avg age of dx 31 years; females
  • butterfly rash
  • pericarditis
  • Libman-sacks endocarditis
  • oral lesions: lichenoid, lupus cheilitis
  • kidney involvement up to 40%
106
Q

Chronic cutaneous lupus erythematosis

A

aka discoid lupus

  • primarily affects skin and oral mucosa
  • oral lesions look pretty much identical to erosive LP
  • cutaneous lesions heal with atrophy and scarring
107
Q

Systemic sclerosis

A

aka scleroderma
Classified into limited cutaneous SS or diffuse cutaneous SS depending on how many areas are involved
-Raynaud phenomenon
-Acro-osteolysis: resorption of the terminal phalanges
-mask-like facies
-mouse facies

108
Q

Localized scleroderma

A

aka morphea

  • usually only affects one patch of skin
  • lesions are described as strike of the sword or “en coupe de sabre”
109
Q

CREST syndrome

A

aka Acrosclerosis, limited scleroderma

  • calcinosis cutis, raynauds phenomen, esophageal dysfunction, syndactyly, telangiectasia
  • females 6-7th decade
  • anti centromeric antibodies
110
Q

Pierre Robin sequence

A
  • mandibular micrognathia
  • glossoptosis
  • cleft palate
  • Occurs alone or as part of: Digeorge (velocardiofacial), Stickler syndrome
111
Q

Van der woude syndrome

A
  • paramedian lip pits
  • cleft palate/ lip
  • hypodontia
112
Q

Popliteal pterygium syndrome

A
  • paramedian lip pits
  • popliteal webbing
  • cleft lip/palate
  • Syngnathia(congenital fibrous bands connecting the upper and lower jaws)
113
Q

Kabuki syndrome

A
  • paramedian lip pits
  • eversion of the lower eye lids
  • CL +/- CP
  • large ears
  • hypodontia
  • joint and skeletal abnormalities
114
Q

Ascher syndrome

A

double lip
blepharochalasia
thyroid goiter

115
Q

Oromandibular-limb hypogenesis syndrome (s)

A
  • hypodactyl
  • hypomelia (missing part of a limb)
  • cleft palate
  • intraoral bands
  • situs inversus
116
Q

Beckwith-weidemann syndrome

A
  • Omaphocele
  • macroglossia
  • Wilms tumor
  • nevus flammeus
  • neonatal hypoglycemia
  • other childhood tumors: heptoblastoma, adrenal carcinoma
  • maxillary hypoplasia
  • linear indentations of the ears
117
Q

Eagle syndrome

A

aka carotid artery syndrome
- symptoms resulting from the calcification of the stylohyoid ligament/extension of the stylohyoid process
with resulting compression of nerves and vessels
- symptoms: vague facial pain, dysphagia, dysphonia, headaches, syncope, TIAs
-palpate the tonsillar fossa area –> pain

118
Q

Hemihyperplasia

A
  • Associated with many syndromes (discussed in multiple choice)
  • present at birth
  • can affect one limb (simple) or a whole side of the body (complex)
  • more frequently affects the right side of the body
  • skin findings: nevus flammeus, hypertrichosis, hyperpigmentation
  • abdominal tumors: wilms tumor, heptoblastoma, adrenal cortical carcinoma
119
Q

Craniofacial dysostosis

A

aka Crouzan syndrome

  • beaten metal skull radio
  • premature closing of the sutures of the skull
  • hypertelorism
  • increased incidence with increased paternal age
  • ocular proptosis: shallow eye sockets
  • Vision loss
  • hearing deficit
  • midfacial hypoplasia
120
Q

Apert syndrome

A
  • exclusively paternal inheritance
  • syndactlyly
  • trapezoid shaped lips
  • swellings on the lateral hard palate that are composed of GAGs and can produce a “pseudocleft”
  • downward slanting of the palpebral fissures
  • ocular proptosis
  • vision loss
  • midface hypoplasia
  • beaten metal skull pattern
121
Q

Mandibulofacial dysostosis

A 
aka Treacher collins syndrome
- associated with increased paternal age
- hypoplastic zygoma
- downward slanting of the palpebral fissures
- Coloboma 
- conductive hearing loss
- mandibular hypoplasia
- lateral facial clefting 15%
- hypoplastic parotids
RADIO: hypoplastic condyle and coronoid notch
prominent antegonial notch
122
Q

Molar-incisor hypomineralization

A
  • one or more first permanent molars are hypominearlized and appearance yellow
  • can also affect incisors
  • these teeth are difficult to anesthetize and are super sensitive
123
Q

Tricho-dento-osseous syndrome

A
  • AD inheritance
  • similar pattern to amelogenesis imperfecta with taurdontism
  • kinky hair
  • osteosclerosis: predom base of skull and mastoid
  • mandible: short ramus, obtuse angle
  • brittle nails
124
Q

Regional odontodysplasia

A
  • ghost teeth in a segment
  • can be both dentitions
  • fibrous hyperplasia of overlying gingiva
  • enameloid conglomerates and interglobular dentin on histology
  • viral/trauma/infection thought to be etiology
  • surrounding bone with lower density
125
Q

Mucopolysaccharidoses overall

A
  • group of metabolic disorders with common thread of inability to process GAGs
  • cloudy degeneration of the cornea
  • intellectual disability
  • stiff joints
  • coarse brow ridges
  • Macroglossia
  • gingival hyperplasia
  • numerous impacted teeth with enlarged follicles

All conditions are autosomal recessive except Hunter

126
Q

Hurler syndrome

A

-Mucopolysaccharidosis
-enzyme deficiency: α-L-Iduronidase
-Appears in infancy; cloudy corneas, growth
impairment, reduced intelligence, coronary
artery disease; rarely live 10 years

127
Q

Scheie

A

-Mucopolysaccharidosis
-enzyme deficiency: α-L-Iduronidase
-Onset in late childhood; cloudy corneas,
normal intelligence, aortic regurgitation;
survive to adulthood

128
Q

Maroteaux-Lamy

A

-Mucopolysaccharidosis
-enzyme deficiency: Arylsulphatase B
-Appears at 2 to 6 years of age; cloudy
corneas, normal intelligence, growth
impairment, stiff joints; may survive to
adulthood

129
Q

Gaucher disease

A
  • lipid reticuloendotheliosis
  • lack glucocerebrosidase
  • accumulate glycosylceramide
  • crowds out BM –> anemia thrombocytopenia
  • Erlenmeyer flask deformity
  • ill-defined radiolucencies of the jaw filled with gaucher cells that have wrinkled silk cytoplasm
  • *increased risk of lymphoma and multiple myeloma
130
Q

Niemann Pick disease

A
  • lipid reticuloendotheliosis
  • lack of sphingomyelinase
  • accumulate sphingomyelin
  • bone marrow aspirate shows sea blue histiocyte
131
Q

Tay-sachs disease

A
  • lipid reticuloendotheliosis
  • lack of beta hexosaminidase-A
  • accumulation of ganglioside in neurons
  • severe cases: intractable seizures, blindness
132
Q

Urbach-wiethe

A

aka lipoid proteinosis, hyalinosis cutis et mucosae

  • first signs: inability of an infant to cry, hoarse cry
  • Thickened yellowish waxy papules, plaques or nodules, particularly on the lips and eyelids
  • Symmetric intracranial calcifications of the medial temporal lobes
  • Oral: nodular thickening in the oral cavity, smooth dorsal tongue, can cause the tongue to be bound to the floor of the mouth
  • Deposition of lamellar material around BV on biopsy. Material is PAS positive and congo red negative.
133
Q

Gilbert syndrome

A

mild liver disease that causes liver to not properly process bilirubin

134
Q

Familial Mediterranean fever

A
  • genetic autoinflammatory disorder
  • attacks of 1-3 days, fever abdominal pain, chest pain, rash, muscle aches, arthritis
  • complications include amyloidosis (amyloid A)
  • Arthritis
135
Q

Beri-Beri disease

A

Vitamin B1/thiamin deficiency

  • occurs in rice based diets
  • Wernicke’s encephalopathy: vomiting, nystagmus, mental deterioration
  • cardiac problems
  • occurs in southeast asia from eating polished rice
136
Q

Pellagra

A

Vitamin B3/niacin deficiency

  • occurs in maize based diets
  • Triad: dermatitis, dementia, and diarrhea
137
Q

Scurvy

A

-weakened blood vessels: petechiae, ecchymosis
*death from intracranial hemorrhage
-generalized gingival swelling, bone loss, perio dz
-premature exfoliation teeth
“scorbutic gingivitis”

138
Q

Rickets

A

childhood deficiency in vitamin D

  • rachitic rosary appearance at the ribs
  • irritability
  • bowed long bones
139
Q

pituitary dwarfism

A
  • decreased GH, GHRH, or lack of receptors
  • normal body proportions by small
  • delayed tooth eruption
  • perio dz
140
Q

Gigantism

A

-increased production of growth hormones before the closing of the epiphyseal plates

141
Q

Cretinism

A

aka childhood hypothyroidism

  • delayed or failure of tooth eruption due to deposition of GAGs
  • thickened lips
  • macroglossia
  • lethargy, bradycardia etc
  • ID if therapy is not initiated
142
Q

Digeorge syndrome

A

22q11.2 deletion syndrome
Acronym: CATCH22
cardiac defects, abnormal facies (pierre robin sequence), cleft palate, hypocalcemia

143
Q

Hypoparathyroidism

A
  • low calcium levels that usually go unnoticed unless there is a secondary event that drives them even lower such as metabolic acidosis
  • Chvostek sign: indicates tetany
  • Oral: enamel pitting
  • failure of tooth eruption
144
Q

Albright hereditary osteodystrophy

A

aka pseudohypoparathyroidism

  • PTH is normal level but other activators downstream aren’t working so patient appears to have hypoparathyroidism
  • elevated PTH with hypocalcemia
  • Short: neck, face, stature, fingers
  • osteoma cutis
  • dental: dagger shaped pulpal calcifications, delayed eruption, oligodontia
145
Q

Hyperparathyroidism

A
  • Primary causes: adenomas, mutations HRPT2, MEN1/MEN2a
    -Secondary causes: ESRD
  • “ground glass” appearance of the trabeculae and loss of
    lamina dura
    -browns tumors of hyperparathyroidism
    “STONEs, BONES, ABDOMINAL groans”
146
Q

Cushing syndrome/Cushing disease

A
  • Hypercortisolism
  • weight gain
  • buffalo hump
  • moon facies
  • red-purple abdominal striae
  • hirsutism
147
Q

Addison Disease

A

aka hypoadrenocortisolism

  • Bronzing: generalized hyperpigmentation of the skin
  • lethargy, fatigue, irritability, hypotension, abdominal pain, hair loss
  • macular pigmentation of the oral cavity
148
Q

Hypophosphatasia

A
  • deficiency in alk phos
  • increased phosphoethanolamine levels
  • premature loss of primary and/or permanent teeth
  • beaten copper skull
  • skeletal malformations
149
Q

Odontohypophosphatasia

A

premature loss of the teeth and serum levels low alk phos with no other systemic manifestations

150
Q

Gingival fibromatosis

A
  • slowly progressive gingival enlargement
  • HYPERTRICHOSIS
  • periodontitis
  • epilepsy
  • sensorineural hearing loss
  • hypothyroid
  • growth hormone deficiency
151
Q

Acatalasia

A
  • Peroxisomal disorder caused by absent or very low levels of the enzyme catalase
  • severe perio dz
  • loss of teeth
152
Q

Papilon-Lefevre syndrome

A
  • Palmar and plantar hyperkeratosis

- premature periodontitis

153
Q

Ludwigs angina

A
  • cellulitis of the submandibular space
  • bull neck
  • woody tongue
  • 70% from lower molar infection
154
Q

Impetigo

A
  • staph aureus +/- strep pyogenes
  • can be bullous or non-bullous
  • amber crust or cornflakes glued to the surface of the skin
  • bullous impetigo: flaccid bullae, lacquer
  • infrequently form eccthyma (scars)
  • long term complication possible: acute glomerulonephritis
155
Q

Erysipelas

A
  • beta hemolytic strep infection that rapidly spreads through lymphatic channels
  • appearance: st anthonys fire, peau d’orange
  • occurs in debilitated adults
156
Q

Scarlet fever

A
  • beta hemolytic strep induced
  • sunburn with goose pimples rash
  • sandpaper texture to rash
  • white strawberry tongue(1-2), red strawberry (4-5)
  • erythema of the cheeks but pale around the mouth
  • pastia lines
157
Q

Diptheria

A
  • corneybacterium diptheriae aka klebs loeffler bacillus
  • thin yellow membrane in the throat that becomes thick grey and adherent
  • bull neck
  • Neuropathy is common from exotoxin; in particular palatal paralysis is most commonly seen
  • confirm diagnosis with culture
158
Q

Syphilis

A
  • Spirochete bacteria: treponema pallidum
  • Primary: chancre
  • Secondary: disseminated, maculopapular rash that includes palms and soles, type B symptoms, split papules/mucous patches condyloma lata
  • Tertiary(30% pts): gumma, CNS: tabes dorsalis, argyll robinson pupil, interstitial glossitis or luetic glossitis
159
Q

Congenital syphilis

A
  • Rhagades
  • saber shins
  • mulberry molars
  • hutchinson incisiors
  • 8th nerve deafness
  • interstitial keratitis
  • clutton joint
  • Scaphoid(winged) scapulae
160
Q

Gonorrhea

A
  • Bacteria: Neisseria gonorrhoeae
  • disseminated disease produces a skin rash of discrete papules or pustules that usually affect trunk and extremity and spare the face/scalp
  • oral infection mimics NUG without the odor
161
Q

Tuberculosis

A

Bacteria: Mycobacterium tuberculosis

  • Primary tuberculosis: occurs in previously unexposed people and almost always involves the lungs. Frequently asymptomatic
  • Secondary tuberculosis: lesions at the apex of lung or disseminated (miliary), progression –> consumption (wasting syndrome)
  • Extra pulmonary: skin = lupus vulgaris; intraoral: chronic ulcers, bony swellings
162
Q

Hansen disease

A

aka leprosy
Tuberculoid:
- small number of well-circumscribed hypopigmented skin lesions, loss of sweating at the sites
- no oral lesions
Lepromatous:
-facial lesions start small and enlarge to create leonine facies appearance
-collapse of the bridge of the nose
-lose hair on the face/head
-oral lesions: loss of uvular, soft palate fixation, macrocheilia
-facial paralysis, sensory deficits

163
Q

Cat scratch disease

A

bacteria: bartonella henselae
- presentation: papule in the line of the scratch mark
- LAD may develop and occasionally only presents in one lymph node
Immune compromised patients:
bacillary angiomatosis, necrotizing granulomas, bacillary peliosis hepatitis

164
Q

Histoplasmosis

A

Fungus: histoplasma capsulatum

  • infects as a yeast form after inhalation of spores
  • usually is asymptomatic and symptoms come with reactivation in the setting of immunosupression
  • Acute histo: flu-like for a couple weeks
  • Chronic histo: similar to TB; upper lobe infiltrates on chet xray
  • Disseminated: usually the only time there are oral lesions, skin lesions etc
165
Q

Paracoccidiomycosis

A

Fungus: paracoccidiodes brasilienis

  • strong male predilection for symptomatic disease
  • oral lesions: mulberry ulcers
  • yeasts are up to 30um and have mickey mouse look
  • pseudoepitheliomatous hyperplasia overlying lesions
166
Q

Valley fever

A

Fungus: coccidioiodes immitis/posadasii

  • valley fever occurs when the patient is infected with coccidio AND they have a hypersensitivity reaction to the infection
  • infectious organism is a yeast
  • 20-60um round spherules containing numerous endospores
  • if disease becomes disseminated then you can get cutaneous and oral lesions
  • Lesions tend to be in the central face and nasolabial fold
167
Q

Congenital toxoplasmosis

A

-occurs when a non-immune mother contracts the disease during her pregnancy and the organism crosses the placental barrier
Baby: blindness, intellectual impairment, and delayed psychomotor development

168
Q

Fifths disease

A

Infection with parvovirus B19 (most common)

  • “slapped cheek” disease
  • erythema infectiosum
  • children ages 5 to 15 years
  • Symptoms: Rash, Arthritis, Hemolytic complications: anemia
169
Q

Eczema herpeticum (Kaposi varicelliform eruption)

A

Life threatening diffuse HSV(usually HSV2)
-Occurs in patients with chronic diffuse skin disease including: Pemphigus, Darier’s disease, Eczema
Newborns from the birth canal

170
Q

Cronkhite-Canada syndrome

A
  • gastrointestinal disorder characterized by widespread colon polyps
  • unhealthy looking (dystrophic) nails
  • hair loss (alopecia)
  • darkening skin (such as on the hands, arms, neck and face)
171
Q

Mumps

A

Caused by paramyxovirus

  • Most common finding is parotid swelling, usually bilateral but doesnt have to be
  • second most common finding: epididymo-orchitis
  • Most common intraoral finding is inflammation and swelling of stensons and whartons duct openings and/or swellings at the floor of the mouth from involvement of the sublingual glands
172
Q

HIV/AIDs

A
  • single stranded RNA retrovirus
  • Acute phase: looks like mono or can be asymptomatic
  • Chronic phase: can be months or up to 15 years (avg 10 years long). Asymptomatic or persistent generalized LAD
    ARC: AIDs related complex symptoms
  • AIDS: often the first feature to lead to this diagnosis is pneumonia caused by the fungus Pneumocystis
    jiroveci
173
Q

DILS

A
  • diffuse infiltrative lymphocytosis syndrome seen in HIV/AIDS patients
  • infiltration is by CD8+ T cells
  • affects salivary glands and causes enlargement
  • can get lymphoepithelial cysts in salivary glands
  • also affects lung, kidneys, muscle, nerve, liver
  • many patients get PNA
  • association with specific HLA types
  • tx : oral prednisone + cART
  • increased risk for lymphoma in HIV patients with this
    • Positive prognostic indicator
174
Q

DILS

A
  • diffuse infiltrative lymphocytosis syndrome seen in HIV/AIDS patients
  • infiltration is by CD8+ T cells
  • affects salivary glands and causes enlargement
  • also affects lung, kidneys, muscle, nerve, liver
  • many patients get PNA
  • tx : oral prednisone + cART
175
Q

Rheumatoid arthritis

A
  • Causes is unknown but thought to be started by some infectious process in a susceptible individual with HLA subtype DRB1
  • Second risk factor: gene PADI4
  • TMJ affected in 50-75%
  • Disease process starts as an attack against in the synovium: synovitis —> pannus
  • bony fusion of adjacent joints aka ankylosis can occur
  • 20% have rheumatoid nodules beneath the skin near the affected joint(s)
176
Q

Giant cell arteritis

A
  • Vasculitis affecting medium and large sized vessels leading to occulsion and ischemia
  • Higher association in patients with HLA type DR4
  • Older patients (>50)
  • Women 2x more than men
  • Symptoms: severe headache and scalp tenderness
  • Can cause blindness
177
Q

Swift-Feer disease

A

aka acrodynia aka pink disease

  • Mercury poisoning in children
  • TRIAD: painful desquamating fingers and toes, neurologic symptoms, and HTN
  • bruxism, excess salivation, premature tooth loss
  • pruritic rash
178
Q

Argyria

A

Chronic systemic silver intoxication

  • grey discoloration of the skin is more intense in areas of sun-exposed skin
  • oral mucosa can show diffuse blue-black pigmentation
179
Q

oculo-facio-cardio-dental syndrome

A

OFCD
X-linked dominant, male lethal
- abnormalities of teeth, eyes, heart, and face
- Although other dental anomalies may be present, radiculomegaly, especially of the canines, is highly specific for OFCD syndrome

180
Q

Amyloidosis (list the types

A
  1. Primary Amyloidosis-AL
  2. Myeloma Associated Amyloidosis-AL
  3. Secondary Amyloidosis-AA
    - TB, Sarcoidosis, OM
  4. Dialysis-related Amyloidosis-A B2M
  5. Hereditary Amyloidosis
    - Heredofamilial Amyloidosis (AD)
    - Familial Mediterranean Fever (AR)
181
Q

Hailey Hailey Disease

A

-Benign chronic familial pemphigus
-Rash and blisters in areas of skin folds
-AD, mutation in ATP2C1 gene on chromosome 3
“dilapidated brick wall” appearance on microscopy

182
Q

Grover Disease

A
  • Transient Acantholytic Dermatosis
  • Itchy red spots on the trunk, most often in older men
  • Most cases last 6 to 12 months
  • Cause is unknown
183
Q

Bismuth poisoning

A

Confusion, encephalopathy, hepatorenal impairment, methemoglobinemia
Blue-grey discoloration of skin, conjunctiva, or oral cavity

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