Spitz Do Of Photosensitivity Ch. 8

Front 1

Inheritance and gene defect in Bloom Syndrome

Back 1

AR; RecQL3

Front 2

What is the pathogenesis of Bloom Syndrome?

Back 2

DNA helicase defect -> abnormal DNA replication and repair -> increased siter chromatid exchange

Front 3

Name other disorders that are a/w helicase family defects

Back 3

Werner, Rothmund Thomson, XPB and XPD

Front 4

Characteristic rash of Bloom Syndrome

Back 4

Photodistributed erythema and telangiectasia in butterfly distribution. +/- bullae

Front 5

Other skin findings in bloom.

Back 5

chelitis; CALM

Front 6

T/F - Bloom patients are tall with long narrow faces and prominent nose

Back 6

False - short stature but with long narrow faces

Front 7

Immunoglobulin pattern in Bloom Syndrome.

Back 7

Decreased IgA and IgM
+/- IgG

Front 8

What percentage of patients with Bloom have neoplasia?

Back 8

20% - acute leukemia, lymphoma, and GI adenocarcinoma.

Front 9

Types of infections seen in Bloom patients.

Back 9

Recurrent and GI infections

Front 10

Which genoderm has SLE on the differential?

Back 10

Bloom Syndrome

Front 11

T/F Bloom Syndrome patients are at risk for infertility.

Back 11

True - hypogonadism

Front 12

Poikiloderma congenitale is also known as what?

Back 12

Rothmund Thomson Syndrome

Front 13

Inheritance and gene defect of Rothmund Thomson?

Back 13

AR; RecQL4 helicase

Front 14

Name an important ancillary study for patients with Rothmund Thomson

Back 14

Long bone xrays
skeletal abnormalities -> reports of osteosarcoma

Front 15

Name skin finding seen in Rothmund Thomson that may precede SCC.

Back 15

acral verrucous keratoses.

Front 16

Eye findings in Rothmund thomson.

Back 16

Juvenile cataracts
seen in 40-50% of patients
seen between 3-7 years old

Front 17

T/F Rothmund Thomson patients typically have shortened lifespan and have learning disabilities.

Back 17

False
Normal Life Span
Normal Intelligence

Front 18

Name some of the possible Musculoskeletal defects in Rothmund Thomson.

Back 18

Short
small hands and feets
hypoplastic or absent thumbs

Front 19

Characteristic skin findings in Rothmund Thomson

Back 19

Rapid replacement of erythema with reticulated patches with atrophy, hypopigmentation.
may be on buttocks and vulva

Front 20

What percentage of patients with Rothmund Thomson has alopecia? Has hypogonadism?

Back 20

25% for each

Front 21

Inheritance of Cockayne syndrome.

Back 21

AR

Front 22

Name the gene mutations of Cockayne.

Back 22

CSA: ERCC8; CSB ERCC6 (M/C 80%)

Front 23

What is impaired by the mutations in Cockayne?

Back 23

DNA repair in active genes -> hypersensitive to UV -> progessive neurodegeneration

Front 24

Buzz word for Cockayne syndrome

Back 24

Mickey Mouse appearance - cachetic dwarf with small head, thin nose and large ears.

Front 25

Skin findings with Cockayne.

Back 25

Photosensitive eruption with erythema and scale in butterfly distribution and photodistributed

subcutaneous fat loss - aged look

Front 26

What happens to the nervous system in Cockayne?

Back 26

diffuse demyelination of the CNS and PNS -> neuro degeneration

Front 27

Referrals for those with Cockayne syndrome?

Back 27

ENT for SNHL; dental for cavities.

Front 28

Classic eye finding in Cockayne syndrome

Back 28

salt and pepper retinal pigment

Also: cataracts; optic atrophy

Front 29

T/F Cockayne patients have a normal life span

Back 29

False - progressive unremitting neuro degeneration with death by 2nd or third decade.

Front 30

Trichithiodystrophy aka?

Back 30

PIBIDS:
Photosensitivity
ichthyisos
brittle hair intellectual impairment
decreased fertility
short stature

Front 31

Tay syndrome is aka?

Back 31

IBIDS (no photosensitivity)

Front 32

Inheritance and Defect in Trichothiodystrophy?

Back 32

AR;

Front 33

Trichothiodystrophy has same complementation group as what 50% of the time?

Back 33

XPD with ERCC2 (all photosensitive) and Cockayne

Front 34

What is deficient in hair of PIBIDS patients?

Back 34

sulfur -> causing it to be brittle.

Front 35

T/F The few < 100 patients with trichothiodystrophy have an increase in skin cancer risk.

Back 35

False

Front 36

Polarizing microscope finding in patients with PIBIDS

Back 36

alternating light and dark bands

Front 37

Other hair findings in trichothiodystrophy

Back 37

Trichoschisis
Brittle hair

Front 38

T/F PIBIDS patients have normal intelligence.

Back 38

Nope. But they usually have a normal lifespan

Front 39

Name the facial dysmorphis found in PIBIDS

Back 39

protruding ears, micrognathia

Front 40

Inheritance of Hartnup Disease

Back 40

AR

Front 41

Describe the pathogenesis of Hartnup disease

Back 41

Defect in transport of NEUTRAL AA acros brush border epithelium of intestine and idney

Front 42

Name the aa whose absorption is decreased in Hartnup. What does it result in?

Back 42

Tryptophan; pellagra like syndrome bc tryptophan is necessary for nicotinic acid production.

Front 43

DDX of Hartnup

Back 43

SLE;
Bloom;
Cockayne
EPP

Front 44

Lab test for hartnup

Back 44

urine screen for aminoaciduria and tryptophan derivatives

Front 45

Name two organ systems involved with Hartnup:

Back 45

Skin - prhotodistrubuted erythema scale +/- bullae]

CNS - atarxia, psych distrubances

Front 46

Porphyria a/w gallstones and liver dysfunction

Back 46

EPP