Spitz Disorders Of Cornification Ch 1

Front 1

Inheritance and gene of ichthyosis vulgaris

Back 1

AD; unknown

Front 2

What is the defect in ichthyiosis vulgaris?

Back 2

defect in profilaggrin - > decreased levels in keratinocytes

Front 3

T/F scale in ichthyiosis vulgaris typically involves flexures.

Back 3

False - spares flexures with increased involvement of extensors

Front 4

What % of icthyiosis vulgaris patients have atopic derm?

Back 4

50% +

Front 5

Where do you biopsy ichthyiosis vulgaris and what do you find?

Back 5

anterior shin
absent granular layer

Front 6

EM finding of ichthyiosis vulgaris

Back 6

small poorly formed keratohyaline granules

Front 7

Skin findings in ichtyiosis vulgaris besides scale.

Back 7

KP
hyperlinear palms

Front 8

Eponym for X linked ichthyiosis and gene defect

Back 8

steriod sulfatase deficincy
also known as arylsulfatase

Front 9

Name the Cs of X linked ichhthyiosis

Back 9

comma shaped corneal opacities (50%)
c/s
Cryptochorchism (20%)

Front 10

Pts with X linked ichthyiosis may be at increased risk of what malignancy?

Back 10

testicular ca

Front 11

Type of scale in X linked ichthiosis?

Back 11

brown, firmly adherent scale - spares flexures

Front 12

Name the contiguous gene syndromes in x linked ichthiyiosis?

Back 12

Kallman syndrome; XLR chondrodysplasia punctata

Front 13

What causes failure of labor progression in moms of patients with a certain genoderm?

Back 13

X linked recessive - decreased placental sulfatase

Front 14

Eponym for Epidermolytic hyperkeratosis

Back 14

Bullous Contenital ichthyosiform erythroderma

Front 15

Inheritance of EHK; Gene defect?

Back 15

AD;

50% spontaneous
Keratin 1 and 10

Front 16

What entity represents a somatic mosaicism for K1/K10 mutations?

Back 16

Extensive epidermal nevi (ichthyosis hystrix) ->

Front 17

Describe the newborn stage of EHK

Back 17

widespread bullae
erythroderma
denuded skin

leads to sepsis and electrolyte imbalance

Front 18

Adulthood phase of EHK

Back 18

mainly hyperkeratosis with rar bullae due to infection
foul odor in intertriginous area
corrugated scale
PPK

Front 19

Inheritance and gene involved in lamellar ichthyiosis

Back 19

transglutaminase 1
AR

Front 20

What disease is a/w transglutaminase 1? What is the pathogenesis?

Back 20

Lamellar ichthyiosis

preventsnormal cross linking of the structural proteins in the protein and lipid envelope.

Front 21

Which two genoderms present as a colloidion baby?

Back 21

Lamellar ichthyiosis

CIE

Front 22

What occurs in colloidion baby?

Back 22

translucent membrane encasing body
ectropion
eclabium
erythroderma

Front 23

What are colloidion babies at risk for?

Back 23

secondary sepsis, hypernatremic dehydration

Front 24

Skin findings in lamellar ichthyiosis as adult

Back 24

Erythroderma
generalized large dark platelike scale in flexures
decreased sweating
PPK

Front 25

T/F lamellar ichthyiosis is a/w non scarring alopecia.

Back 25

False - scarring alopecia

Front 26

Nail findings in lamellar ichthyiosis

Back 26

nail dystrophy
Nail fold inflamm

Front 27

CIE is?

Back 27

Non bullous CIE

Front 28

Inheritance of Non bullous CIE

Back 28

AR

Front 29

T/F Non bullous CIE is more common than lammellar.

Back 29

True

Front 30

DDX of CIE

Back 30

Neutral lipid storage disease
lamellar
ichthyisis vulgaris
netherton syndrome

Front 31

Newborn skin findings in CIE?

Back 31

colloidion baby

Front 32

What are the skin findings in CIE after infancy?

Back 32

erythroderma with fine white scale, flexures
extensors with large dark scale
hypohidrosis
alopecia

Front 33

Eye findngs in CIE

Back 33

ectropion

Front 34

Prenatal dx of harlequin fetus

Back 34

EM with absent lamellarbodies

Front 35

Findings in hrlequin fetus

Back 35

Massive hyperkeratotic plates with deep fissures encasing newborn

Ectropion;eclabium; deformed ears

Front 36

Inheritance and gene in Sjogren Larssen?

Back 36

AR
Fatty aldehyde dehydrogenase (FALDH)

Front 37

What is the first manifestation of sjogren larssen?

Back 37

generalized ichthyiosis, pruritis, erythroderma

Front 38

Describe CNS manifestations of Sjogren Larssen

Back 38

MR; spastic diplegia with scissior gait; SZ

Front 39

Eye association with sjogren larssen

Back 39

atypical retinal pigment degeneration in macula - glistening white dots in perimacular distribution

Front 40

Name the medication that may help pruritis in Sjogren Larsson and why?

Back 40

Zileuton - reduces leukotriene B4 levels

Front 41

Refsum syndrome

Back 41

AKA phytanic acid storage dz

Front 42

Inheritance and genes of Refsum syndrome

Back 42

PAHX and PEX7

Front 43

What manifests first in Refsum syndrome?

Back 43

Neuro symptoms then skin:
Cerebellar ataxia, progresssive peripheral polyneuropathy.

Front 44

Dz a/w PAHX gene and what it does?

Back 44

Causes deficiency of phytanoyl coa hydroxylase which is a peroxisomal enzyme-> catalyzes hytanic acid -> accumulation

Front 45

Dz a/w PEX7 gene and what it does?

Back 45

Encodes peroxin 7, a receptor important for targetting enzymes to peroxisomes.

Front 46

Skin findings in Refsum.

Back 46

mild ichthyiosis (after CNS)

Front 47

Eye findings in Refsum Syndrome.

Back 47

retinitis pigmentosa with salt and pepper pigment

Front 48

T/F Refsum syndrome can have ENT manifestations.

Back 48

True - SNHL (deafness)

Front 49

What organ systems can lead to mortality in refsum?

Back 49

Cardiac with heart block
respiratory failure due to medullary depression

Front 50

CHILD syndrome AKA?

Back 50

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)

Front 51

Inheritance for CHILD syndrome and Gene?

Back 51

XLD

NSDHL

Front 52

What does NSDHL encode for?

Back 52

3B-hydroxysteroid dehydrogenase , involved in cholesterol biosynthesis

Front 53

Uniform Ichthyiosiform erythroderma with sharp midline cutoff
Ipsilateral alopecia
severe nail dystrophy
Hypoplasia of limbs ipsilateral to icthyiosis
Hypoplasic of organs below icthyiosis (varies).

Back 53

CHILD syndrome

Front 54

Eponym for Conradi Hunermann syndrome.

Back 54

X linked dominant chondrodysplasia punctata

Front 55

Inheritance; gene defect.

Back 55

XLD

Emopamil binding protein

Front 56

How can you diagnose conradi hunermann syndrome prenatally?

Back 56

ultrasound evaluation of long bones

Front 57

What is the mutation in EBP and what dz?

Back 57

3b hydroxysteroid isomerase -> defect in cholesterol biosynthesis

Front 58

How does the ichthyiosiform erythroderma of infancy in conradi hunermann resolve?

Back 58

follicular atrophoderma

Front 59

Eye findings in conradi hunermann?

Back 59

asymmetric focal cataracts

Front 60

Bone findings in conradi hunermann?

Back 60

Stiippled epiphyses (punctate calcifications); asymmetric limb shortening

Front 61

Type of alopecia in conradi hunermann?

Back 61

patchy alopecia

Front 62

T/F conradi hunermann has not craniofacial defects.

Back 62

False -
has frontal bossing, macrocephaly, flat nasal root.

Front 63

Netherton eponym

Back 63

ichthyosis linearis circumflexa.

Front 64

Inheritance of and gene defect in Netherton's

Back 64

AR

SPINK

Front 65

What does SPINK encode and what dz?

Back 65

Netherton's

encodes LEKT1, serine protease inhibitor that may be impt in downregulating inflammtory pathways

Front 66

How does Netherton's first present? Then it evolves to.?

Back 66

generalized erythema and scaling with 2o hypernatremia and FTT

ILC - migratory erythematous polycyclic serpiginous plaques with double edged scae; AD; Seborrheic like scale

Front 67

M/C hair finding in netherton's? Other findings?

Back 67

Trichorrhexis invaginta (ball and socket)

also pili torti; trichorrhexis nodosa

Front 68

Where is the m/c site to find bamboo hairs?

Back 68

eyebrows

Front 69

Immunologic finding in Netherton's?

Back 69

anaphylaxis to food

Front 70

Eponym for Erythrokeratoderma Variabilis

Back 70

Mendes da costa syndrome

Front 71

Inheritance and gene of EKV?

Back 71

AD; GJB3 gene

Front 72

Mutation in genes of EKV encode for what?

Back 72

GJB3 and 4; encode connexin 31 and 30.3; membrane components in gap junction proteins

Front 73

T/F Burning sensation may precede or accompany the erythematous lesions in EKV.

Back 73

True - in 35% of pts.

Front 74

Which genoderm involves well demarcated geographic patches of erythena day to day?

Back 74

EKV

Front 75

Other skin finding in EKV

Back 75

Hyperkeratotic fixed focal plaques

Front 76

KID Syndrome stands for?

Back 76

keratiti-ichthyiosis-deafness

Front 77

Transmission and genes for KID?

Back 77

AD and AR;

GJB2

Front 78

What does gene involved in KID do?

Back 78

encodes for connexin 26 - gap junction protein responsible for comms in the epidermis and cochlea

Front 79

Pts with KID syndrome have inceased susceptbility to what infections?

Back 79

Fungal, esp. candida

Front 80

Type of PPK found in KID.

Back 80

Stippled PPK

Front 81

Skin findings in KID

Back 81

erythematous keratotic plaques
generalized mild hyperkeratosies

Front 82

Hair and Nail findings in KID

Back 82

dystrophic nails; alopecia in scalp eyelashes eyebrows

Front 83

Unusual for ichthyiosis, what are pts with KID at risk for?

Back 83

SCC of skin, tongue

Front 84

Diffuse PPK Eponyms

Back 84

Vorner or epidermolytic
Unna or non epidermolytic

Front 85

Inheritance and genes for Diffuse PPK

Back 85

AD

Vorner - K9 M/c and K1
Unna K1

Front 86

What is the M/C inherited PPK?

Back 86

Diffuse PPK - M/C Vorner

Front 87

Defect in K1 and K9

Back 87

Disrupt K filament assembly within palmoplantar skin

Front 88

Is Diffuse PPK transgrediens or non transgrediens?

Back 88

Non Transgrediens

Front 89

Inheritance and gene for howel-evans syndrome

Back 89

AD

Tylosis and oesophageal cancer (TOC)

Front 90

Type of PPK in Howel Evans

Back 90

Focal weight bearing symmetric non transgradiens

Front 91

Eponym for Vohlwinkle Syndrome

Back 91

PPK mutilans

Front 92

Inheritance and types of vohlwinkle syndrome.

Back 92

AD

Classic with deafness - GJB
Loricrin - Loricrin

Front 93

In classic vohlwinkles with deafness what does gene encdode? how about the other?

Back 93

connexin 26 gap junction protein

Loricrin - cornified cell envelope -> ichthyiosis

Front 94

Describe Classic Vohlwinkles clinically.

Back 94

Pseudoainhum
starfish keratoese
diffuse honeycomb ppk
High frequency non progressive hearing loss

Front 95

Describe the loricrin variant of vohlwinkles

Back 95

no hearing defect but with mild generalized ichthyiosis

Front 96

Eponym for Keratoderma palmoplantaris transgrediens?

Back 96

Mal de meleda

Front 97

Inheritance and gene of mal de meleda.

Back 97

AR; secreted Ly-6uPar related protein 1 (SLURP1)

Front 98

What is the gene of mal de meleda involved with?

Back 98

SLURP - cell signalling and adhesion

Front 99

Features of mal de maleda

Back 99

Glve and stocking PPK with transgrediens
malodorous
hyperhidrosis
fetid odor

Hyperkeratotic plaques over elbows and knees

subungual hyperkeratosis; koilonychia

Front 100

In mal de meleda what precedes hyperkeratosis?

Back 100

Erythema of palms and soles

Front 101

Inheritance and gene defect of papillon lefevre syndrome

Back 101

AR

CTSC -> CAPTHEPSIN c

Front 102

What does capthepsin C do?

Back 102

it is a lysosomal protease

Front 103

Skin findings for Papillon Lefevre.

Back 103

Sharply demarcated PPK with erythematous bordr, transgrediens, odor
soles>palms
Diffuse> punctate
pyogenic infections
hyperkeratotic plaques

Front 104

Other systems involved in papillon lefevre.

Back 104

Mouth - periodontitis with severe singivitis, loss of permanent teeth

CNS - dural calcification

Front 105

Eponym for Richner Hanhart Syndrome

Back 105

Tyrosinemia type II

Front 106

What presents first in richne hanhart - eye or skin?

Back 106

Eye first

Front 107

Inheritane and gene in richner hanhart?

Back 107

AR
tyrosine aminotransferase

Front 108

Pathogenesis of richner hanhart.

Back 108

Mutations in tyrosine aminotransferase - deficiency of the hepatic enzyme ->
accumulation of tyr in all tissues

Front 109

DDX of richner hanhart

Back 109

Herpetic keratitis

Front 110

Describe the keratoderma in richner hanhart.

Back 110

Focal weight bearing plantar surfaces within or witout pain

Front 111

What is found on hands of darier's patients?

Back 111

Acrokeratosis verruciformis of Hopf.

Front 112

Epidermal Nevus Syndrome eponyms

Back 112

Ichthyiosis hystrix
ILVEN

Front 113

Genoderm a/w vitamin d resistant rickets?

Back 113

Epidermal nevus syndrome