Dz highlights Flashcards
1
Q
Parry-Romberg
A
idiopathic unilateral atrophy of the face
2
Q
Churg Strauss
A
- autoimmune dz
- allergic like symptoms
- eosinophilic vasculitis, necrotizing granulomas(like wegners but with eos)
- serum eosinophilia
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
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
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
6
Q
Castleman disease
A
- Fever, weight loss, night sweats
- LAD (can be one lymph node or multicentric form)
7
Q
Kikuchi disease
A
- mild fever, night sweats, lymphadenopathy of the neck
- BX shows necrotizing lymphadenitis
8
Q
Rosai Dorfman disease
A
Painless lymph node enlargement
-BX: histiocytes with emperiopoiesis
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
10
Q
Lemierre Syndrome
A
- Oropharyngeal infection leading to secondary septic thrombophlebitis
- Org: Fusobacterium necrophorum
11
Q
Wilsons disease
A
excess copper in the body
12
Q
Kimura disease
A
- subcutaneous mass in the head and neck region
- regional LAD
- peripheral eosinophilia, serum IgE
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
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
15
Q
Black foot disease
A
arsenic poisoning
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
17
Q
Van buchem disease
A
Similar to sclerosteosis
-hyperostosis of the skull, mandible, clavicles, ribs, and diaphyseal cortices of the long bones.
18
Q
Cleidocranial dysplasia
A
Hypoplastic clavicles
wormian bones
multiple supernumerary teeth
acute gonial angle of the mandible
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
20
Q
Noonan syndrome
A
- Multiple giant cell lesions
- Short stature
- ocular hypertelorism
- pulmonic stenosis
- webbed neck
21
Q
Ramon syndrome
A
- cherubism-like lesions
- gingival fibromatosis
- hypertrichosis
- epilepsy
- mental retardation
22
Q
Jaffe-Lichentenstein
A
polyostotic FD
cafe au lait
23
Q
Mazabraud
A
intramuscular myxomas
polyostotic FD
24
Q
McCune Albright
A
- Cafe au lait
- polyostotic FD
- Endocrine abnormalities
25
Familial gigantiform cementoma
- 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
26
Gnatho-diaphyseal dysplasia
- Diffuse fibrosseous lesions of jaws with psammoma bodies
- bowing of cortical bones
- bone fragility
27
Hyperparathyroidism jaw tumor syndrome
Parathyroid adenoma or carcinoma
Ossifying fibromas of the jaws
Renal cysts
Wilms tumors
28
Gardner's syndrome
-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
29
Ollier disease
sporadic chondromatosis with unilateral tendency
30
Maffuci syndrome
- Chondromatosis
| - soft tissue angiomas
31
Li-fraumeni syndrome
-Inherited familial disposition to cancer
SBLA: sarcoma(osteosarcoma), breast cancer, leukemia, adrenal cancer
-Mut TP53; also CHEK2
32
Rothmund-Thomson syndrome
-melanin pigmentation of the oral cavity
-Hypodontia
-Osteosarcoma risk
-Actinic keratosis and other non-melanoma skin cancer
Eyes: cataracts
33
Neurofibromatosis type 2
- Bilateral acoustic neuromas
| - Meningiomas and gliomas of the CNS
34
Neurofibromatosis type 1 (major criteria)
- 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
35
MEN1
- Endocrine tumors: parathyroid, pancreatic, pituitary
- Tumors are benign
- MEN1 gene not RET
36
Sipple syndrome
aka MEN2A
- Medullary thyroid carcinoma, pheochromocytoma, parathyroid hyperplasia
- paragangliomas
37
MEN2B
- Marfanoid body habitus
- Mucosal neuromas
- Pheochromocytoma
- Medullary thyroid carcinoma
38
Von-Hippel lindau
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
39
PHACES syndrome
```
Posterior fossa brain abnormalities
Hemangiomas
Arterial anomalies
Cardiac defects
Eye anomalies
Sternal cleft
```
40
Dermatosis papulosa nigra
Multiple waxy/stuck-on appearing papules in the zygomatic/oribtal area most commonly
-lesions are sebks
41
Muirr-Torre syndrome
- Sebaceous adenomas and carcinomas
- Multiple keratoacanthomas
- Internal malignancy: most commonly colorectal carcinoma
42
Lentiginosis profusa
numerous lentigenes without other abnormalities
43
Noonan syndrome with multiple lentigenes
```
aka LEOPARD syndrome (previously)
Lentigenes
ECG abnormalities
Ocular hypertelorism
Pulmonary stenosis
Abnormal genitalia
Retarded growth
Deafness
```
44
Ferguson-Smith
- Inherited
- Multiple self healing squamous epitheliomas (MSSE)
- KAs
- Scottish descent
45
Witten-Zak
- Inherited
| - Multiple KAs
46
Gryzbowski syndrome
- Acquired
- hundreds to thousands of KAs of skin and GI mucosa
- may be associated with internal malignancy
47
Plummer-Vinson syndrome (Paterson-Kelly syndrome)
```
Dysphagia
Iron-deficiency anemia
Esophageal webs
Koilonychia (spoon shaped nails)
Patients predisposed to esophageal cancer
```
48
Fanconi Anemia
Short stature
Aplastic anemia
increased risk of oral SCC
deafness
49
Nevoid basal cell carcinoma syndrome
```
>5 BCCs (before 30)
>2 Palmar and plantar pits
OKCs
1st degree relative
calcified falx
```
50
Rombo syndrome
- BCCS
- Milia
- telangiectasia
- reticular pattern of skin atrophy
51
Bazex-Christol-Dupre syndrome
- BCCs
- milia
- hypohydrosis
- hypotrichosis
52
Dowling-Meara subtype of epidermolysis bullosa simplex:
- BCCs
| - rare severe blistering disease
53
Hemifacial microsomia
congenital condition in which one side of the lower face is underdeveloped
-usually affects ear and mouth on that side
54
Lacrimo-auriculo-dento-digital syndrome (LADD)
lacrimo: defect in lacrimal apparatus
auriculo: cup shaped and hearing loss
dento: hypodontia, microdontia
digital: digital abnormalities- missing/fused
55
Brooke-Spiegler syndrome
Cylindromas
Trichoepitheliomas
Spiradenomas
(maybe membranous type of basal cell adenomas)
56
Sickle cell anemia
- 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
57
Cooley's anemia
- 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
58
Hydrops fetalis
- 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
59
Schwachman-Diamond syndrome
- inherited bone marrow failure syndrome
| - poor growth/skeletal abnormalities
60
Cartilage-hair syndrome
- dwarfism
- hypotrichosis
- immune deficiency aka neutropenia
61
Kostmann syndrome
- congenital neutropenia disorder (<500 cells/mm3)
| - frequent recurrent bacterial infections
62
Polycythemia vera
- 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
63
Myelophthisic anemia definition
When a malignant proliferation crowds out the normal bone marrow resulting in decreased RBCs, platelets, WBCs
64
Hand-Schuller-Christian disease
chronic disseminated histiocytosis- bone, skin and visceral involvement
65
Bloom syndrome
- inherited
- Elevated risk for non-hodgkin lymphoma
- immune deficiency; susceptible to infection
- short stature
- butterfly rash after sun exposure
66
Wiskott-Aldrich syndrome
- eczema
- immune deficiency
- thrombocytopenia
67
Sezary syndrome
- aggressive form of mycosis fungoides
* *atypical lymphocytes in peripheral blood
- generalized exfoliative erythroderma
- LAD
- hepatosplenomegaly
68
Sweet syndrome
- 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
69
MAGIC syndrome
mouth and genital ulcers with inflamed cartilage
| -combo of behcets and relapsing polychondritis
70
PFAPA syndrome
-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
71
Behcet syndrome
-3rd to 4th decade
- more common in men
- HLA predisposition B51
-Major critieria: oral
Minor criteria: genital, ocular inflammation and vasculitis, positive pathergy test
72
Lofgren syndrome
- erythema nodosum
- bilateral hilar LAD
- arthralgia
73
Heerfordt syndrome
- Anterior Uveitis
- Parotid swelling
- fever
- facial paralysis
74
Melkersson-Rosenthal syndrome
- Orofacial granulomatosis
- Fissured tongue
- Facial paralysis
75
Acquired angioedema AAE
- acquired deficiency of C1 inhibitor (C1-INH)
- hyperactivation of the classical pathway of human complement
- recurrent angioedema
76
Molar incisor hypoplasia (MIH)
hypomineralization of 1 or more 1st perm molars
77
Muccopolysaccharidoses
- cant break down GAGs
- multiple impacted teeth with large follicles
- macroglossia
- gingival hyperplasia
- cloudy degeneration of the cornea
- macrocephaly
- markedly reduced stature
78
Ellis-van crevald
- Natal teeth
- Median cleft of the upper lip
- associated with taurodontism
- polydactyl
- dwarfism
79
otodental syndrome
- globodontia both primary and permanent dentition
- sensorineural hearing loss
- colombomas
- odontomas
80
oxalosis
- rare metabolic disorder in which the kidneys are unable to eliminate calcium oxalate crystals through the urine
- also causes premature attachment loss
81
Chediak-Higashi syndrome
- 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
Caldwell syndrome
AKA acquired angioedema
- C1-INH deficiency that occurs as a result of lymphoproliferative disorder
* C1-INH deficiency from any cause leads to angioedema
83
Hypohidrotic ectodermal dysplasia
- 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
Witkop-von sallman
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
Pachyonychia congenita
```
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
Cole-engman syndrome
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
Xeroderma pigmentosum
- mutation in DNA repair machinery
| - propensity to develop non-melanoma skin cancer by teenage years
88
Carney complex syndrome
- multiple benign tumors including psamommatous melanocytic schwannomas
- abnormalities in skin coloring
- pigmented oral mucosa lesions
89
Jones-Hartfield syndrome
Gingival fibromatosis
| sensorineural hearing loss
90
Hereditary mucoepithelial dysplasia
- photophobia and cataracts
- coarse hair
- alopecia
- perineal rash
- pulmonary complications
- asymptomatic fiery red lesion of the palate
91
Bloch-Sulzberger syndrome
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
Darier's disease
- 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
Peutz-Jeghers
-melanocytic lesions of skin and mouth
-intestinal polyps, hamartomatous
-predisposition towards cancer 10-18x
50% of women develop breast cancer by 50
94
Osler-weber-rendu syndrome
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
CREST syndrome
calcinosis cutis, Raynaud, esophageal dysfunction, syndactyly, telangiectasia
- can look like HHT but will have positivity for anti-centromere antibodies
96
Reactive arthritis
- Triggered by venereal disease or dysentery
- HLA-B27 predisposes the patient
- Non-gonococcal urethritis
- arthritis
- conjunctivitis
- balanitis circinata
- Aphthous stomatitis
97
Chronic ulcerative stomatitis
-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
Goltz-Gorlin/Goltz syndrome/focal dermal hypoplasia
- 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
Cannon disease
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
Ehlers-Danlos syndrome
- 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
Tuberous sclerosis
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
Multiple hamartoma syndrome
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
Epidermolysis bullosa
-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
Angina bullosa hemorrhagica
- Older predominantly female patients
- subepidermal blister
- blood filled blisters rupture and heal without scarring
- associated with trauma or corticosteroid use
105
Systemic lupus erythematosus
- avg age of dx 31 years; females
- butterfly rash
- pericarditis
- Libman-sacks endocarditis
- oral lesions: lichenoid, lupus cheilitis
- kidney involvement up to 40%
106
Chronic cutaneous lupus erythematosis
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
Systemic sclerosis
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
Localized scleroderma
aka morphea
- usually only affects one patch of skin
- lesions are described as strike of the sword or "en coupe de sabre"
109
CREST syndrome
aka Acrosclerosis, limited scleroderma
- calcinosis cutis, raynauds phenomen, esophageal dysfunction, syndactyly, telangiectasia
- females 6-7th decade
- anti centromeric antibodies
110
Pierre Robin sequence
- mandibular micrognathia
- glossoptosis
- cleft palate
- Occurs alone or as part of: Digeorge (velocardiofacial), Stickler syndrome
111
Van der woude syndrome
- paramedian lip pits
- cleft palate/ lip
- hypodontia
112
Popliteal pterygium syndrome
- paramedian lip pits
- popliteal webbing
- cleft lip/palate
- Syngnathia(congenital fibrous bands connecting the upper and lower jaws)
113
Kabuki syndrome
- paramedian lip pits
- eversion of the lower eye lids
- CL +/- CP
- large ears
- hypodontia
- joint and skeletal abnormalities
114
Ascher syndrome
double lip
blepharochalasia
thyroid goiter
115
Oromandibular-limb hypogenesis syndrome (s)
- hypodactyl
- hypomelia (missing part of a limb)
- cleft palate
- intraoral bands
- situs inversus
116
Beckwith-weidemann syndrome
- Omaphocele
- macroglossia
- Wilms tumor
- nevus flammeus
- neonatal hypoglycemia
- other childhood tumors: heptoblastoma, adrenal carcinoma
- maxillary hypoplasia
- linear indentations of the ears
117
Eagle syndrome
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
Hemihyperplasia
- 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
Craniofacial dysostosis
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
Apert syndrome
- 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
Mandibulofacial dysostosis
```
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
Molar-incisor hypomineralization
- 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
Tricho-dento-osseous syndrome
- 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
Regional odontodysplasia
- 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
Mucopolysaccharidoses overall
- 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
Hurler syndrome
-Mucopolysaccharidosis
-enzyme deficiency: α-L-Iduronidase
-Appears in infancy; cloudy corneas, growth
impairment, reduced intelligence, coronary
artery disease; rarely live 10 years
127
Scheie
-Mucopolysaccharidosis
-enzyme deficiency: α-L-Iduronidase
-Onset in late childhood; cloudy corneas,
normal intelligence, aortic regurgitation;
survive to adulthood
128
Maroteaux-Lamy
-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
Gaucher disease
- 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
Niemann Pick disease
- lipid reticuloendotheliosis
- lack of sphingomyelinase
- accumulate sphingomyelin
- bone marrow aspirate shows sea blue histiocyte
131
Tay-sachs disease
- lipid reticuloendotheliosis
- lack of beta hexosaminidase-A
- accumulation of ganglioside in neurons
- severe cases: intractable seizures, blindness
132
Urbach-wiethe
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
Gilbert syndrome
mild liver disease that causes liver to not properly process bilirubin
134
Familial Mediterranean fever
- genetic autoinflammatory disorder
- attacks of 1-3 days, fever abdominal pain, chest pain, rash, muscle aches, arthritis
- complications include amyloidosis (amyloid A)
- Arthritis
135
Beri-Beri disease
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
Pellagra
Vitamin B3/niacin deficiency
- occurs in maize based diets
- Triad: dermatitis, dementia, and diarrhea
137
Scurvy
-weakened blood vessels: petechiae, ecchymosis
*death from intracranial hemorrhage
-generalized gingival swelling, bone loss, perio dz
-premature exfoliation teeth
"scorbutic gingivitis"
138
Rickets
childhood deficiency in vitamin D
- rachitic rosary appearance at the ribs
- irritability
- bowed long bones
139
pituitary dwarfism
- decreased GH, GHRH, or lack of receptors
- normal body proportions by small
- delayed tooth eruption
- perio dz
140
Gigantism
-increased production of growth hormones before the closing of the epiphyseal plates
141
Cretinism
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
Digeorge syndrome
22q11.2 deletion syndrome
Acronym: CATCH22
cardiac defects, abnormal facies (pierre robin sequence), cleft palate, hypocalcemia
143
Hypoparathyroidism
- 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
Albright hereditary osteodystrophy
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
Hyperparathyroidism
- 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
Cushing syndrome/Cushing disease
- Hypercortisolism
- weight gain
- buffalo hump
- moon facies
- red-purple abdominal striae
- hirsutism
147
Addison Disease
aka hypoadrenocortisolism
- Bronzing: generalized hyperpigmentation of the skin
- lethargy, fatigue, irritability, hypotension, abdominal pain, hair loss
- macular pigmentation of the oral cavity
148
Hypophosphatasia
- deficiency in alk phos
- increased phosphoethanolamine levels
- premature loss of primary and/or permanent teeth
- beaten copper skull
- skeletal malformations
149
Odontohypophosphatasia
premature loss of the teeth and serum levels low alk phos with no other systemic manifestations
150
Gingival fibromatosis
- slowly progressive gingival enlargement
- HYPERTRICHOSIS
- periodontitis
- epilepsy
- sensorineural hearing loss
- hypothyroid
- growth hormone deficiency
151
Acatalasia
- Peroxisomal disorder caused by absent or very low levels of the enzyme catalase
* severe perio dz
* loss of teeth
152
Papilon-Lefevre syndrome
- Palmar and plantar hyperkeratosis
| - premature periodontitis
153
Ludwigs angina
- cellulitis of the submandibular space
- bull neck
- woody tongue
- 70% from lower molar infection
154
Impetigo
- 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
Erysipelas
- beta hemolytic strep infection that rapidly spreads through lymphatic channels
- appearance: st anthonys fire, peau d'orange
- occurs in debilitated adults
156
Scarlet fever
- 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
Diptheria
- 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
Syphilis
- 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
Congenital syphilis
- Rhagades
- saber shins
- mulberry molars
- hutchinson incisiors
- 8th nerve deafness
- interstitial keratitis
- clutton joint
- Scaphoid(winged) scapulae
160
Gonorrhea
- 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
Tuberculosis
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
Hansen disease
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
Cat scratch disease
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
Histoplasmosis
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
Paracoccidiomycosis
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
Valley fever
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
Congenital toxoplasmosis
-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
Fifths disease
Infection with parvovirus B19 (most common)
- "slapped cheek" disease
- erythema infectiosum
- children ages 5 to 15 years
- Symptoms: Rash, Arthritis, Hemolytic complications: anemia
169
Eczema herpeticum (Kaposi varicelliform eruption)
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
Cronkhite-Canada syndrome
- 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
Mumps
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
HIV/AIDs
- 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
DILS
- 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
DILS
- 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
Rheumatoid arthritis
- 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
Giant cell arteritis
- 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
Swift-Feer disease
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
Argyria
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
oculo-facio-cardio-dental syndrome
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
Amyloidosis (list the types
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
Hailey Hailey Disease
-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
Grover Disease
- 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
Bismuth poisoning
Confusion, encephalopathy, hepatorenal impairment, methemoglobinemia
Blue-grey discoloration of skin, conjunctiva, or oral cavity
