Flashcards in Genoderms Syndrome Deck (257)
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1
lentigenes, ECG defects, pulmonary stenosis, genetalia defects, ocular hypertelorism, deafness, and retardation of growth
LEOPARD Syndrome (Moynahan syndrome)
2
photodistributed erythema
high pitched voice
decreased immunoglobulins (IgM/IgA) causing chronic respiratory infections
increased risk for GI adenocarcinoma, leukemia
Bloom Syndrome (congenital telangiectatic erythema)
3
plucked chicken skin
angioid streaks
retinal hemorrhage
gastric artery hemorrhage*
MVP
fragmented calcified elastin of skin/eyes/arteries
PXE (Pseudoxanthoma Elasticum)
4
gastric artery hemorrhage
PXE
5
high pitched voice + photodistributed erythema
Bloom syndrome
6
Bloom syndrome has increased risk for which cancer?
GI andenocarcinoma (also leukemia)
7
Moynahan syndrome is another name for what?
LEOPARD SYNDROME
8
Name the findings in LEOPARD syndrome
Lentigines
ECG abnormalities
Ocular telorism
Pulmonary stenosis
Abnormal Genetalia
Retardation of growth
Deafness
9
Angioid streaks plus retinal hemorrage
PXE
10
Multiple KAs
Ferguson Smith,
*also found in Muire Torre Syndrome
11
cutaneous myxomas
areola myxomas
atrial myxomas
Cushings syndrome from primary pigmented nodular adrenocortical disease
psammomatous melanotic schwannomas
Carney Syndrome
12
LAMB or NAME syndrome
Carney Syndrome
13
name the findings in LAMB/NAME/Carney complex
Lentigenes
Atrial Myxoma
Mucocutaneous myxomas
Blue nevi
Nevi
Atrial myxomas
Myxoid tumors
Ephelids
14
psammomatous melanotic schwannomas
Carney Complex
15
Atrial myxomas
Carney complex
16
psammomatous melanotic schwannomas
Carney Complex
17
Atrial myxomas
Carney complex
18
multiple fractures
thin skin
blue sclera
MVP**
Osteogenesis Imperfecta Type 1
19
Type of OI with MVP
OI 1
20
beaded ribs
Osteogenesis Imperfecta Type II
21
Crumpled humeri
Osteogenesis Imperfecta Type II
22
"reticulate grey brown hyperpigmentaion of the neck and face"
Dyskeratosis Congenita
-poikiloderma of the face, trunk, thighs
-nail dystrophy (pterygium)
-premalignant leukoplakia of the buccal mucosa
-frictional bulla
-PPK
-bone marrow failure
-increased risk of CA
23
Major cause of mortality in Dyskeratosis Congenita
Bone marrow failure! 90%!!!! (anemia, thrombocytopenia)
24
Premalignant leukoplakia
Dyskeratosis Congenita
25
Non premalignant oral leukoplakia
Pachonychia Congenita (vs Dyskeratosis Congenita which has PREMALIGNANT oral leukoplakia)
26
mental retardation
poikiloderma
nail dystrophy
weird tongue lesion
thrombocytopenia
dental carries with loss of teeth
PPK
Dyskeratosis Congenita
-pterygium (nail dystrophy)
-thrombocytopenia
-poikiloderma
-oral premalignant leukoplakia
27
Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita
28
Genoderm characterized by short telomeres
Dyskeratosis Congenita
29
clumped tonofiliments
EM finding seen in Dowling Maera Type EBS
30
