genod, acantholytic

Question 1

• AD

– SERCA2 Ca2+

Answer 1

Darier’s

Question 2

• AD

* ATP2C1

Answer 2

Hailey-Hailey

Question 3

• 3rd to 4th decade

* Moist, eroded vesicles, crusts in intertriginous areas

Answer 3

Hailey-Hailey

Question 4

• Keratotic malodorous papules, erosions in seborrheic distribution
• Cobblestoning of mucosa
• Nails
– Red and white streaks
– V-shaped nicks
• Neuropsychiatric disease possible
• May be segmental

Answer 4

Darier’s

Question 5

K 6a, 16• AD

Answer 5

• Type I—Pachonychia Congenita

Question 6

– Natal teeth

Answer 6

Pachonychia Congenita

Question 7

—K6b, 17

Answer 7

Type IIPachonychia Congenita

Question 8

• AD

* LMX1B

Answer 8

Nail-Patella

Question 9

• Triangular lunulae
• Hypoplastic or absent patellae, radial head sublux, posterior iliac horns, hyperextensibility, scoliosis,
renal disease, glaucoma and other eye

Answer 9

Nail-Patella

Question 10

– SCM, EIC, amyloid, cataracts, microphthalmia

– Natal teeth

Answer 10

Type II—K6b, 17Pachonychia Congenita

Question 11

• Nucleotide excision repair

Answer 11

XP

Question 12

•in XP UV causes

Answer 12

CPDs and 6, 4 photoproducts

Question 13

•?Complementation Groups

recognizes DNA damage

Answer 13

– XPA and E—

Question 14

• Complementation Groups

– XPB and XPD—

Answer 14

unwinding DNA

Question 15

• Complementation Groups– XPF and XPG—

Answer 15

repairing damage

Question 16

A; Defective nucleotide excision
repair: Initial step of binding
defective DNA

Answer 16

DeSanctis-Cacchione

syndrome

Question 17

AR Most severe variant. Photosensitivity
with variable to severe neurologic
abnormalities/growth delay/deafness

Answer 17

DeSanctis-Cacchione

syndrome

Question 18

DNA Helicase
DNA excision-repair
cross-complementing (ERCC3) gene defect
AD

Answer 18

B

Question 19

Photosensitivity (XP) with pigmentary
retinopathy and basal ganglia
calcification (CS)

Answer 19

Overlap with
Cockayne
syndrome XP/CS

Question 20

Defective nucleotide
excision repair: Binding to
ssDNA to allow stable repair

Answer 20

C

Question 21

At great risk for skin cancer
(melanoma). Rare
neurological symptoms
Most common in Europeans/ worldwide

Answer 21

C

Question 22

Overlap with
Trichothiodystrophy
(PIBIDS) and XP/CS

Answer 22

D

Question 23

AR,DNA Helicase

ERCC2 DNA repair gene

Answer 23

D

Question 24

Poikiloderma, early skin cancer,
photo ocular damage, decreased
intelligence, neurological
impairment (later onset)

Answer 24

D

Question 25

Defective nucleotide excision repair: Enzyme that cleaves pyrimidine

Answer 25

E

Question 26

AR

Answer 26

A, D E F G

Question 27

Mildest skin/eye photosensitivity. No | neurologic changes

Answer 27

E

Question 28

Occurs primarily in Japanese patients Mild photosensitivity, freckling, rare skin cancer. No neuro/ocular abnormalities

Answer 28

F

Question 29

Endonuclease | ERCC4 gene

Answer 29

F

Question 30

Endonuclease human homolog of the yeast RAD2 gene

Answer 30

G

Question 31

Overlap with XP/CS

Answer 31

G

Question 32

Mild skin changes. No skin cancer. Neuro/ocular abnormalities with XP/ CS only

Answer 32

G

Question 33

POLH gene: Normal DNA repair rate, but defective postreplication repair

Answer 33

Variant

Question 34

About 1/3 of all pts with XP. Most common in Japan. Variable photosensitivity with no neurological abnormality

Answer 34

Variant

Question 35

``` • Photosensitivity • MR • Cachetic dwarfism • “Bird facies” and “Mickey Mouse ears” • Cataracts, deafness and others • Infection – Death from pneumonia ```

Answer 35

Cockayne Syndrome

Question 36

• AR, Cross-complementing group 8 gene—ERCC8

Answer 36

Cockayne Syndrome

Question 37

•Cockayne Syndrome? increase in skin cancer

Answer 37

NO

Question 38

– Complementation group B, D and G

Answer 38

• XP/CS overlap

Question 39

* AR | * ERCC2/XPD

Answer 39

TTD, IBIDS, PIBIDS

Question 40

• AR • RECQL2 – DNA helicase

Answer 40

Werner Syndrome (Adult Progeria)

Question 41

* Scleroderma-like changes * Beaked nose * CAD

Answer 41

Werner Syndrome (Adult Progeria)

Question 42

* AR | * Lamin A

Answer 42

Hutchinson-Gilford/Progeria

Question 43

* Premature aging | * Death from CAD

Answer 43

Hutchinson-Gilford/Progeria

Question 44

* Photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility, short stature * Tiger-tail hair * Nail abnormalities

Answer 44

TTD, IBIDS, PIBIDS

Question 45

• AR • RECQL4 – DNA helicase

Answer 45

Rothmund-Thomson (Poikiloderma congenitale)

Question 46

* AR * Homogentisicacid oxidase deficiency * Blue-gray pigment in skin, eyes, cartilage, sweat

Answer 46

Alkaptonuria

Question 47

• “Bananas” on path

Answer 47

Alkaptonuria

Question 48

* AR * ATM gene * Chromosomal breakage and sensitivity to ionizing rads

Answer 48

Ataxia-Telangiectasia

Question 49

* Oculocutaneous telangiectasia, CALM | * Ataxia by year one

Answer 49

Ataxia-Telangiectasia

Question 50

• Cancer | – Leukemia, lymphoma, breast CA

Answer 50

Ataxia-Telangiectasia

Question 51

• Poikiloderma, photosensitivity, sparse hair and nail changes • CA risk – BCC, SCC and osteogenic sarcoma

Answer 51

Rothmund-Thomson (Poikiloderma congenitale)

Question 52

• AR • BLM gene defect – ReqQ protein-like—3 DNA helicase – Increased sister chromatid exchange

Answer 52

Bloom Syndrome

Question 53

Growth deficiency, photosensitive, telangiectasia, prominent ears and nose, CALM, hypertrichosis • Cancer – Leukemia, lymphoma, SCC, adenoCA

Answer 53

Bloom Syndrome

Question 54

* AR * Seven different complementation groups * Affects all levels in the bone marrow

Answer 54

Fanconi Anemia

Question 55

* CALMs, heart, GU * Aplasia of radius * Hypoplastic thumbs

Answer 55

Fanconi Anemia

Question 56

• XR – Dyskerin – Increased exchange and breakage

Answer 56

Dyskeratosis Congenita

Question 57

– Melanomas have occasionally been reported | – p53 mutations

Answer 57

Li-Fraumeni Syndrome

Question 58

• 90% lifetime risk of developing cancer | – Most commonly sarcomas, leukemia, and breast cancer

Answer 58

Li-Fraumeni Syndrome

Question 59

* Poikilodermatous changes * Nails * Precancerous leukoplakia of mouth * Tearing * Absent fingerprints * MR, deafness, anemia

Answer 59

Dyskeratosis Congenita

Question 60

• Infections • Cancer – Leukemia, HD, pancreatic, SCC

Answer 60

Dyskeratosis Congenita

Question 61

• Female carriers – Mild skin and lung – Increased cancer risk however

Answer 61

Dyskeratosis Congenita