Buzzwords Flashcards
Premalignant leukoplakia
Dyskeratosis Congenita
Benign oral leukoplakia
Pachyonychia congenita type I
Cobblestoning of oral mucosa
Cowden syndrome, chrons, Darier
Anodontia
Hypomelanosis of Ito
IP
Hypohidrotic ectodermal dysplasia
Pegged teeth
IP
All ectodermal dysplasias
Natal teeth
Pachyonychia congenita type 2
Retention of primary teeth
HyperIgE
Supranumerary teeth (polydontia)
Gardner syndrome
Erythrodontia (red colored teeth)
CEP (Congenital erythropoietic porphyria
Enamel hypoplasia (enamel pits)
TS, Junctional EB, Sjogren-Larsson
Staining of teeth
Tetracycline gingival 1/3, Minocycline middle 1/3
Centrally notched upper incisors
Congenital syphilis *these are Hutchison’s teeth
Periodontitis with with early tooth loss
Papillon-Lefevre syndrome, Haim-Munk syndrome
Floating teeth
Lettered-Siwe disease (LCH) *this is a disseminated form of LCH and on radiographs the teeth appear to be “floating away” because of such diffuse involvement :(
Mucocutaneous papillomas and pits
Focal dermal hypoplasia (Goltz)
Mucosal neuromas and rubbery lips
MEN2B
Oral fibromas
Tuberous Sclerosis, Birt-Hogg-Dube
Odotogenic cysts
Gardner syndrome, Gorlin syndrome
Macroglossia
Beckwith-Wiedemann Syndrome
Comma shaped corneal opacities
X-linked ichthyosis
Whorl-like corneal opacities
Fabry disease
Keratoconus
Atopic derm, Down syndrome (gradual bulging from normal round shape to cone shaped)
Painful keratitis, dendritic corneal ulcers(pseudoherpetic)
Richter-Hanhart Syndrome
Photophobia, keratitis, neovascularization, eventual blindness
KID syndrome
Anterior subcapsular cataracts
Atopic dermatitis
Lester Iris (hyperpigmentation around pupillary margin of the iris)
Nail-Patella syndrome
Heterochromia iridis
Waardenburg syndrome (two different eye colors in the same individual)
Lisch nodules (pigmented hamartomatous nevi in iris)
Neurofibromatosis
Coloboma
Goltz
Ectopia lentis, downward
Homocystenuria
Ectopia lentis, upward
Marfan
Anterior uveitis, lacrimal gland enlargement with increased lacrimation
Sarcoidosis
Posterior uveitis (can be anterior too)
Bechets
Angiod streaks
PXE, Lead poisoning
Congenital hypertrophy of retinal pigment epithelium (CHRPE)
Gardner Syndrome
Retinitis pigmentosa (salt/pepper)
Cockayne, Refsum
Perifovial glistening white dots in ocular fundus
Sjogren-Larsson syndrome
Retinal phakomas (hamartomas)
Tuberous sclerosis
Giant cell epulides
Cherubim (SH3BP2)
Broad nasal bridge
Hyper IgE (Job syndrome)
Bullous pear-shaped nose
Trichorhinophalanegeal syndrome
Beaked nose
Rubinstein-Taybi syndrome
Progeria
Circular depression in the posterior rim of helices
Beckwidth Wiedemann syndrome
Ear lobe creases
Beck-width Wiedmann syndrome
Crumpled ears
Congenital contractural arachnodactyly
Lutzomyia verrucarum
Sandfly- Oroya fever (Bartonella bacilliformis)
Lutzomyia spp. Phlebotomus spp.
Sandfly
Leishmaniasis
Reduvid bug
Chagas’ disease (Trypanosoma Cruzi)
Xenopsylla cheopis (rat flea)
Plaque (Yersinia pestis) Endemic Typhus (Rickettsia typhi)
Ctenocephalides Felis (cat flea)
Cat scratch disease (Bartonella henselae)
Chrysoprase, family Tabanidae (deer fly)
Tularemia (Francisella tularenisis)
Pustulo-ovoid bodies
Granular Cell tumor
Malignancy in Gorlin
Medulloblastoma
Fibrosarcomas
Ovarian fibromas
Increased risk of medulloblastoma in what genoderm
Gorlin
*also increased risk of ovarian fibroma and fibrosarc
Cancer a/w Bloom syndrome
Leukemia or GI carcinoma
What cancers are a/w Birt Hogg Dube
Renal
Thyroid (medullary)
Colon CA
*fibrofolliculomas
Follicular thyroid, breast, colon CA risk a/w what genoderm?
Cowden
Cancers a/w Cowden syndrome
Follicular thyroid
Breast
Colon
What type of cancer a/w maffucci?
Chondrosarcoma
Endochondromas
Chondrosarcoma
Endochondroma
A/w what genoderm?
Mafuccii
Supranumerary teeth
Colon CA
What genoderm?
Gardener syndrome
Medullary thyroid
Mucosal neuromas
MEN 2B
Tuberous sclerosis a/w increased risk of what CA
Renal Cell CA
Increased risk of OSTEOSARCOMA
Rothmund-Thomson syndrome
Rothmund-Thompson syndrome a/w increased risk of what CA?
Osteosarcoma
Broad thumbs
Rubinstein Taybi syndrome
Radiologic finding in Rubinstein-Taybi
Broad thumbs
Broad thumbs
Hypoplastic thumbs
Broad thumbs - Rubinstein-Taybi
Hypoplastic thumbs - Rothmund Thompson
Thickened scapula
Nail Patella Syndrome
*also have absent patella, also Iliac exostoses (posterior iliac horns)
Iliac exostoses (posterior iliac horns)
Nail Patella
Sclerotic focal bone lesions
POEMS syndrome
Clinodactyly
Cornelia de Lange
Russel Silver
Short 4th metacarpal
Albright hereditary osteodystrophy
Resorption of distal phalanges
Scleroderma
Haim Munk
Tufting of terminal phalanges
Hidrotic ectodermal dysplasia (Clouston)
Vector: Lutzomyia verrucarum
Lutzomyia verrucarum (sandfly) is the vector for:
Oroya fever (bartonella bacilliformis)
*New world leishmaniasis is Lutzomyia spp. (Phlebotomus spp)
Vector: Xenopsylla cheopis
Xenopsylla cheopis (rat flea) is the vector for:
Plague (Yersinia persist) Endemic typhus (Rickettsia typhi)
Whorled corneal opacities
Fabrys
Whorled corneal opacities = cornea verticcillata