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genoderm, ped > genod, acantholytic > Flashcards

genod, acantholytic Flashcards

1
Q

• AD

– SERCA2 Ca2+

A

Darier’s

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2
Q
  • AD

* ATP2C1

A

Hailey-Hailey

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3
Q
  • 3rd to 4th decade

* Moist, eroded vesicles, crusts in intertriginous areas

A

Hailey-Hailey

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4
Q 
• Keratotic malodorous papules, erosions in seborrheic distribution
• Cobblestoning of mucosa
• Nails
– Red and white streaks
– V-shaped nicks
• Neuropsychiatric disease possible
• May be segmental
A

Darier’s

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5
Q

K 6a, 16• AD

A

• Type I—Pachonychia Congenita

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6
Q

– Natal teeth

A

Pachonychia Congenita

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7
Q

—K6b, 17

A

Type IIPachonychia Congenita

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8
Q
  • AD

* LMX1B

A

Nail-Patella

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9
Q

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

A

Nail-Patella

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10
Q

– SCM, EIC, amyloid, cataracts, microphthalmia

– Natal teeth

A

Type II—K6b, 17Pachonychia Congenita

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11
Q

• Nucleotide excision repair

A

XP

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12
Q

•in XP UV causes

A

CPDs and 6, 4 photoproducts

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13
Q

•?Complementation Groups

recognizes DNA damage

A

– XPA and E—

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14
Q

• Complementation Groups

– XPB and XPD—

A

unwinding DNA

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15
Q

• Complementation Groups– XPF and XPG—

A

repairing damage

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16
Q

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

A

DeSanctis-Cacchione

syndrome

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17
Q

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

A

DeSanctis-Cacchione

syndrome

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18
Q

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

A

B

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19
Q

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

A

Overlap with
Cockayne
syndrome XP/CS

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20
Q

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

A

C

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21
Q

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

A

C

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22
Q

Overlap with
Trichothiodystrophy
(PIBIDS) and XP/CS

A

D

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23
Q

AR,DNA Helicase

ERCC2 DNA repair gene

A

D

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24
Q

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

A

D

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25
Q

Defective nucleotide excision
repair: Enzyme that cleaves
pyrimidine

A

E

26
Q

AR

A

A, D E F G

27
Q

Mildest skin/eye photosensitivity. No

neurologic changes

A

E

28
Q

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

A

F

29
Q

Endonuclease

ERCC4 gene

A

F

30
Q

Endonuclease human homolog of the yeast RAD2 gene

A

G

31
Q

Overlap with XP/CS

A

G

32
Q

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

A

G

33
Q

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

A

Variant

34
Q

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

A

Variant

35
Q 
• Photosensitivity
• MR
• Cachetic dwarfism
• “Bird facies” and “Mickey Mouse ears”
• Cataracts, deafness and others
• Infection
– Death from pneumonia
A

Cockayne Syndrome

36
Q

• AR, Cross-complementing group 8 gene—ERCC8

A

Cockayne Syndrome

37
Q

•Cockayne Syndrome? increase in skin cancer

A

NO

38
Q

– Complementation group B, D and G

A

• XP/CS overlap

39
Q
  • AR

* ERCC2/XPD

A

TTD, IBIDS, PIBIDS

40
Q

• AR
• RECQL2
– DNA helicase

A

Werner Syndrome (Adult Progeria)

41
Q
  • Scleroderma-like changes
  • Beaked nose
  • CAD
A

Werner Syndrome (Adult Progeria)

42
Q
  • AR

* Lamin A

A

Hutchinson-Gilford/Progeria

43
Q
  • Premature aging

* Death from CAD

A

Hutchinson-Gilford/Progeria

44
Q
  • Photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility, short stature
  • Tiger-tail hair
  • Nail abnormalities
A

TTD, IBIDS, PIBIDS

45
Q

• AR
• RECQL4
– DNA helicase

A

Rothmund-Thomson (Poikiloderma congenitale)

46
Q
  • AR
  • Homogentisicacid oxidase deficiency
  • Blue-gray pigment in skin, eyes, cartilage, sweat
A

Alkaptonuria

47
Q

• “Bananas” on path

A

Alkaptonuria

48
Q
  • AR
  • ATM gene
  • Chromosomal breakage and sensitivity to ionizing rads
A

Ataxia-Telangiectasia

49
Q
  • Oculocutaneous telangiectasia, CALM

* Ataxia by year one

A

Ataxia-Telangiectasia

50
Q

• Cancer

– Leukemia, lymphoma, breast CA

A

Ataxia-Telangiectasia

51
Q

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

A

Rothmund-Thomson (Poikiloderma congenitale)

52
Q

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

A

Bloom Syndrome

53
Q

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

A

Bloom Syndrome

54
Q
  • AR
  • Seven different complementation groups
  • Affects all levels in the bone marrow
A

Fanconi Anemia

55
Q
  • CALMs, heart, GU
  • Aplasia of radius
  • Hypoplastic thumbs
A

Fanconi Anemia

56
Q

• XR
– Dyskerin
– Increased exchange and breakage

A

Dyskeratosis Congenita

57
Q

– Melanomas have occasionally been reported

– p53 mutations

A

Li-Fraumeni Syndrome

58
Q

• 90% lifetime risk of developing cancer

– Most commonly sarcomas, leukemia, and breast cancer

A

Li-Fraumeni Syndrome

59
Q
  • Poikilodermatous changes
  • Nails
  • Precancerous leukoplakia of mouth
  • Tearing
  • Absent fingerprints
  • MR, deafness, anemia
A

Dyskeratosis Congenita

60
Q

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

A

Dyskeratosis Congenita

61
Q

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

A

Dyskeratosis Congenita

genoderm, ped (8 decks)

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