Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key


Play button


Play button




Click to flip

113 Cards in this Set

  • Front
  • Back
Inheritance and gene of ichthyosis vulgaris
AD; unknown
What is the defect in ichthyiosis vulgaris?
defect in profilaggrin - > decreased levels in keratinocytes
T/F scale in ichthyiosis vulgaris typically involves flexures.
False - spares flexures with increased involvement of extensors
What % of icthyiosis vulgaris patients have atopic derm?
50% +
Where do you biopsy ichthyiosis vulgaris and what do you find?
anterior shin
absent granular layer
EM finding of ichthyiosis vulgaris
small poorly formed keratohyaline granules
Skin findings in ichtyiosis vulgaris besides scale.
hyperlinear palms
Eponym for X linked ichthyiosis and gene defect
steriod sulfatase deficincy
also known as arylsulfatase
Name the Cs of X linked ichhthyiosis
comma shaped corneal opacities (50%)
Cryptochorchism (20%)
Pts with X linked ichthyiosis may be at increased risk of what malignancy?
testicular ca
Type of scale in X linked ichthiosis?
brown, firmly adherent scale - spares flexures
Name the contiguous gene syndromes in x linked ichthiyiosis?
Kallman syndrome; XLR chondrodysplasia punctata
What causes failure of labor progression in moms of patients with a certain genoderm?
X linked recessive - decreased placental sulfatase
Eponym for Epidermolytic hyperkeratosis
Bullous Contenital ichthyosiform erythroderma
Inheritance of EHK; Gene defect?

50% spontaneous
Keratin 1 and 10
What entity represents a somatic mosaicism for K1/K10 mutations?
Extensive epidermal nevi (ichthyosis hystrix) ->
Describe the newborn stage of EHK
widespread bullae
denuded skin

leads to sepsis and electrolyte imbalance
Adulthood phase of EHK
mainly hyperkeratosis with rar bullae due to infection
foul odor in intertriginous area
corrugated scale
Inheritance and gene involved in lamellar ichthyiosis
transglutaminase 1
What disease is a/w transglutaminase 1? What is the pathogenesis?
Lamellar ichthyiosis

preventsnormal cross linking of the structural proteins in the protein and lipid envelope.
Which two genoderms present as a colloidion baby?
Lamellar ichthyiosis

What occurs in colloidion baby?
translucent membrane encasing body
What are colloidion babies at risk for?
secondary sepsis, hypernatremic dehydration
Skin findings in lamellar ichthyiosis as adult
generalized large dark platelike scale in flexures
decreased sweating
T/F lamellar ichthyiosis is a/w non scarring alopecia.
False - scarring alopecia
Nail findings in lamellar ichthyiosis
nail dystrophy
Nail fold inflamm
CIE is?
Non bullous CIE
Inheritance of Non bullous CIE
T/F Non bullous CIE is more common than lammellar.
Neutral lipid storage disease
ichthyisis vulgaris
netherton syndrome
Newborn skin findings in CIE?
colloidion baby
What are the skin findings in CIE after infancy?
erythroderma with fine white scale, flexures
extensors with large dark scale
Eye findngs in CIE
Prenatal dx of harlequin fetus
EM with absent lamellarbodies
Findings in hrlequin fetus
Massive hyperkeratotic plates with deep fissures encasing newborn

Ectropion;eclabium; deformed ears
Inheritance and gene in Sjogren Larssen?
Fatty aldehyde dehydrogenase (FALDH)
What is the first manifestation of sjogren larssen?
generalized ichthyiosis, pruritis, erythroderma
Describe CNS manifestations of Sjogren Larssen
MR; spastic diplegia with scissior gait; SZ
Eye association with sjogren larssen
atypical retinal pigment degeneration in macula - glistening white dots in perimacular distribution
Name the medication that may help pruritis in Sjogren Larsson and why?
Zileuton - reduces leukotriene B4 levels
Refsum syndrome
AKA phytanic acid storage dz
Inheritance and genes of Refsum syndrome
What manifests first in Refsum syndrome?
Neuro symptoms then skin:
Cerebellar ataxia, progresssive peripheral polyneuropathy.
Dz a/w PAHX gene and what it does?
Causes deficiency of phytanoyl coa hydroxylase which is a peroxisomal enzyme-> catalyzes hytanic acid -> accumulation
Dz a/w PEX7 gene and what it does?
Encodes peroxin 7, a receptor important for targetting enzymes to peroxisomes.
Skin findings in Refsum.
mild ichthyiosis (after CNS)
Eye findings in Refsum Syndrome.
retinitis pigmentosa with salt and pepper pigment
T/F Refsum syndrome can have ENT manifestations.
True - SNHL (deafness)
What organ systems can lead to mortality in refsum?
Cardiac with heart block
respiratory failure due to medullary depression
CHILD syndrome AKA?
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)
Inheritance for CHILD syndrome and Gene?

What does NSDHL encode for?
3B-hydroxysteroid dehydrogenase , involved in cholesterol biosynthesis
Uniform Ichthyiosiform erythroderma with sharp midline cutoff
Ipsilateral alopecia
severe nail dystrophy
Hypoplasia of limbs ipsilateral to icthyiosis
Hypoplasic of organs below icthyiosis (varies).
CHILD syndrome
Eponym for Conradi Hunermann syndrome.
X linked dominant chondrodysplasia punctata
Inheritance; gene defect.

Emopamil binding protein
How can you diagnose conradi hunermann syndrome prenatally?
ultrasound evaluation of long bones
What is the mutation in EBP and what dz?
3b hydroxysteroid isomerase -> defect in cholesterol biosynthesis
How does the ichthyiosiform erythroderma of infancy in conradi hunermann resolve?
follicular atrophoderma
Eye findings in conradi hunermann?
asymmetric focal cataracts
Bone findings in conradi hunermann?
Stiippled epiphyses (punctate calcifications); asymmetric limb shortening
Type of alopecia in conradi hunermann?
patchy alopecia
T/F conradi hunermann has not craniofacial defects.
False -
has frontal bossing, macrocephaly, flat nasal root.
Netherton eponym
ichthyosis linearis circumflexa.
Inheritance of and gene defect in Netherton's

What does SPINK encode and what dz?

encodes LEKT1, serine protease inhibitor that may be impt in downregulating inflammtory pathways
How does Netherton's first present? Then it evolves to.?
generalized erythema and scaling with 2o hypernatremia and FTT

ILC - migratory erythematous polycyclic serpiginous plaques with double edged scae; AD; Seborrheic like scale
M/C hair finding in netherton's? Other findings?
Trichorrhexis invaginta (ball and socket)

also pili torti; trichorrhexis nodosa
Where is the m/c site to find bamboo hairs?
Immunologic finding in Netherton's?
anaphylaxis to food
Eponym for Erythrokeratoderma Variabilis
Mendes da costa syndrome
Inheritance and gene of EKV?
AD; GJB3 gene
Mutation in genes of EKV encode for what?
GJB3 and 4; encode connexin 31 and 30.3; membrane components in gap junction proteins
T/F Burning sensation may precede or accompany the erythematous lesions in EKV.
True - in 35% of pts.
Which genoderm involves well demarcated geographic patches of erythena day to day?
Other skin finding in EKV
Hyperkeratotic fixed focal plaques
KID Syndrome stands for?
Transmission and genes for KID?
AD and AR;

What does gene involved in KID do?
encodes for connexin 26 - gap junction protein responsible for comms in the epidermis and cochlea
Pts with KID syndrome have inceased susceptbility to what infections?
Fungal, esp. candida
Type of PPK found in KID.
Stippled PPK
Skin findings in KID
erythematous keratotic plaques
generalized mild hyperkeratosies
Hair and Nail findings in KID
dystrophic nails; alopecia in scalp eyelashes eyebrows
Unusual for ichthyiosis, what are pts with KID at risk for?
SCC of skin, tongue
Diffuse PPK Eponyms
Vorner or epidermolytic
Unna or non epidermolytic
Inheritance and genes for Diffuse PPK

Vorner - K9 M/c and K1
Unna K1
What is the M/C inherited PPK?
Diffuse PPK - M/C Vorner
Defect in K1 and K9
Disrupt K filament assembly within palmoplantar skin
Is Diffuse PPK transgrediens or non transgrediens?
Non Transgrediens
Inheritance and gene for howel-evans syndrome

Tylosis and oesophageal cancer (TOC)
Type of PPK in Howel Evans
Focal weight bearing symmetric non transgradiens
Eponym for Vohlwinkle Syndrome
PPK mutilans
Inheritance and types of vohlwinkle syndrome.

Classic with deafness - GJB
Loricrin - Loricrin
In classic vohlwinkles with deafness what does gene encdode? how about the other?
connexin 26 gap junction protein

Loricrin - cornified cell envelope -> ichthyiosis
Describe Classic Vohlwinkles clinically.
starfish keratoese
diffuse honeycomb ppk
High frequency non progressive hearing loss
Describe the loricrin variant of vohlwinkles
no hearing defect but with mild generalized ichthyiosis
Eponym for Keratoderma palmoplantaris transgrediens?
Mal de meleda
Inheritance and gene of mal de meleda.
AR; secreted Ly-6uPar related protein 1 (SLURP1)
What is the gene of mal de meleda involved with?
SLURP - cell signalling and adhesion
Features of mal de maleda
Glve and stocking PPK with transgrediens
fetid odor

Hyperkeratotic plaques over elbows and knees

subungual hyperkeratosis; koilonychia
In mal de meleda what precedes hyperkeratosis?
Erythema of palms and soles
Inheritance and gene defect of papillon lefevre syndrome

What does capthepsin C do?
it is a lysosomal protease
Skin findings for Papillon Lefevre.
Sharply demarcated PPK with erythematous bordr, transgrediens, odor
Diffuse> punctate
pyogenic infections
hyperkeratotic plaques
Other systems involved in papillon lefevre.
Mouth - periodontitis with severe singivitis, loss of permanent teeth

CNS - dural calcification
Eponym for Richner Hanhart Syndrome
Tyrosinemia type II
What presents first in richne hanhart - eye or skin?
Eye first
Inheritane and gene in richner hanhart?
tyrosine aminotransferase
Pathogenesis of richner hanhart.
Mutations in tyrosine aminotransferase - deficiency of the hepatic enzyme ->
accumulation of tyr in all tissues
DDX of richner hanhart
Herpetic keratitis
Describe the keratoderma in richner hanhart.
Focal weight bearing plantar surfaces within or witout pain
What is found on hands of darier's patients?
Acrokeratosis verruciformis of Hopf.
Epidermal Nevus Syndrome eponyms
Ichthyiosis hystrix
Genoderm a/w vitamin d resistant rickets?
Epidermal nevus syndrome