Spitz DO of Photosensitivity Ch. 8 Flash Cards

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Title: Spitz DO of Photosensitivity Ch. 8
Description: Flashcards pertaining to chapter 8 of spitz
Number of Cards: 46
Save Count: 0
Author: dancingdelarosa7
Created: 2011-12-22
Tags: derm nmcsd spitz
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    • Question
    • Answer
    • Side 3
    • Inheritance and gene defect in Bloom Syndrome
    • AR; RecQL3
    • What is the pathogenesis of Bloom Syndrome?
    • DNA helicase defect -> abnormal DNA replication and repair -> increased siter chromatid exchange
    • Name other disorders that are a/w helicase family defects
    • Werner, Rothmund Thomson, XPB and XPD
    • Characteristic rash of Bloom Syndrome
    • Photodistributed erythema and telangiectasia in butterfly distribution. +/- bullae
    • Other skin findings in bloom.
    • chelitis; CALM
    • T/F - Bloom patients are tall with long narrow faces and prominent nose
    • False - short stature but with long narrow faces
    • Immunoglobulin pattern in Bloom Syndrome.
    • Decreased IgA and IgM
      +/- IgG
    • What percentage of patients with Bloom have neoplasia?
    • 20% - acute leukemia, lymphoma, and GI adenocarcinoma.
    • Types of infections seen in Bloom patients.
    • Recurrent and GI infections
    • Which genoderm has SLE on the differential?
    • Bloom Syndrome
    • T/F Bloom Syndrome patients are at risk for infertility.
    • True - hypogonadism
    • Poikiloderma congenitale is also known as what?
    • Rothmund Thomson Syndrome
    • Inheritance and gene defect of Rothmund Thomson?
    • AR; RecQL4 helicase
    • Name an important ancillary study for patients with Rothmund Thomson
    • Long bone xrays
      skeletal abnormalities -> reports of osteosarcoma
    • Name skin finding seen in Rothmund Thomson that may precede SCC.
    • acral verrucous keratoses.
    • Eye findings in Rothmund thomson.
    • Juvenile cataracts
      seen in 40-50% of patients
      seen between 3-7 years old
    • T/F Rothmund Thomson patients typically have shortened lifespan and have learning disabilities.
    • False
      Normal Life Span
      Normal Intelligence
    • Name some of the possible Musculoskeletal defects in Rothmund Thomson.
    • Short
      small hands and feets
      hypoplastic or absent thumbs
    • Characteristic skin findings in Rothmund Thomson
    • Rapid replacement of erythema with reticulated patches with atrophy, hypopigmentation.
      may be on buttocks and vulva
    • What percentage of patients with Rothmund Thomson has alopecia? Has hypogonadism?
    • 25% for each
    • Inheritance of Cockayne syndrome.
    • AR
    • Name the gene mutations of Cockayne.
    • CSA: ERCC8; CSB ERCC6 (M/C 80%)
    • What is impaired by the mutations in Cockayne?
    • DNA repair in active genes -> hypersensitive to UV -> progessive neurodegeneration
    • Buzz word for Cockayne syndrome
    • Mickey Mouse appearance - cachetic dwarf with small head, thin nose and large ears.
    • Skin findings with Cockayne.
    • Photosensitive eruption with erythema and scale in butterfly distribution and photodistributed

      subcutaneous fat loss - aged look
    • What happens to the nervous system in Cockayne?
    • diffuse demyelination of the CNS and PNS -> neuro degeneration
    • Referrals for those with Cockayne syndrome?
    • ENT for SNHL; dental for cavities.
    • Classic eye finding in Cockayne syndrome
    • salt and pepper retinal pigment

      Also: cataracts; optic atrophy
    • T/F Cockayne patients have a normal life span
    • False - progressive unremitting neuro degeneration with death by 2nd or third decade.
    • Trichithiodystrophy aka?
    • PIBIDS:
      Photosensitivity
      ichthyisos
      brittle hair intellectual impairment
      decreased fertility
      short stature
    • Tay syndrome is aka?
    • IBIDS (no photosensitivity)
    • Inheritance and Defect in Trichothiodystrophy?
    • AR;
    • Trichothiodystrophy has same complementation group as what 50% of the time?
    • XPD with ERCC2 (all photosensitive) and Cockayne
    • What is deficient in hair of PIBIDS patients?
    • sulfur -> causing it to be brittle.
    • T/F The few < 100 patients with trichothiodystrophy have an increase in skin cancer risk.
    • False
    • Polarizing microscope finding in patients with PIBIDS
    • alternating light and dark bands
    • Other hair findings in trichothiodystrophy
    • Trichoschisis
      Brittle hair
    • T/F PIBIDS patients have normal intelligence.
    • Nope. But they usually have a normal lifespan
    • Name the facial dysmorphis found in PIBIDS
    • protruding ears, micrognathia
    • Inheritance of Hartnup Disease
    • AR
    • Describe the pathogenesis of Hartnup disease
    • Defect in transport of NEUTRAL AA acros brush border epithelium of intestine and idney
    • Name the aa whose absorption is decreased in Hartnup. What does it result in?
    • Tryptophan; pellagra like syndrome bc tryptophan is necessary for nicotinic acid production.
    • DDX of Hartnup
    • SLE;
      Bloom;
      Cockayne
      EPP
    • Lab test for hartnup
    • urine screen for aminoaciduria and tryptophan derivatives
    • Name two organ systems involved with Hartnup:
    • Skin - prhotodistrubuted erythema scale +/- bullae]

      CNS - atarxia, psych distrubances
    • Porphyria a/w gallstones and liver dysfunction
    • EPP