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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

grouped or herpetiform blisters at birth
hoarseness
PPK
mucosal membrane/laryngeal involvement
nail dystrophy
early death

Dowling-Maera EBS