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Genoderms > Cornification > Flashcards

Cornification Flashcards

1
Q

Ichthyosis vulgaris

A

AD
Profilaggrin
Spares flexures

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2
Q

X-linked ichthyosis

A 
XLR
Steroid sulfatase (aryl sulfatase c)
Spares palms, sol es, flexures
Comma shaped corneal opacities
Failure of labor progression
Cryptochoridism
Screen for contiguous gene deletion syndrome w Kallmann syndrome and XLR chondrodysplasia punctata
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3
Q

Lamellar ichthyosis

A

AR
TGM1; ABCA12; CYP4F22
Collodion baby

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4
Q

Epidermolytic ichthyosis (EHK), bullous CIE

A

AD
K1 - PPK
K10 - no PPK
Corrugated cardboard

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5
Q

Ichthyosis bullosa of Siemens

A

AD
K2e
Corrugated cardboard
Nearly identical to epidermolytic ichthyosis but with unusually fragile skin - Mauserung

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6
Q

Congenital ichthyosiform erythroderma - nonbullous CIE

A

TGM1; ALOX 12B/E3

Collodion baby

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7
Q

Harlequin ichthyosis

A

AR/sporadic
ABCA12
No lamellar granules
Decreased calpain

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8
Q

Sjogren-Larrson

A 
AR
FALDH 
Spastic tetraplegia, scissor gate
Glistening dot retinitis pigmentosa
Very itchy from leukotrine B4
Scandinavians
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9
Q

Refsum

A

AR
Phytanoyl coenzyme A hydroxylase or peroxin 7
Salt and pepper retinitis pigmentosa and deafness
Ataxia
Heart block
Need diet low in green vegetables, dairy and ruminant fats

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10
Q

Genoderms with cryptochordism

A 
Noonan
Fabry’s
X-ichthyosis
Rubinstein-Taybi
Cornelia de Lange
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11
Q

Keratin 1 and 10

A

Bullous CIE

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12
Q

Keratin 2

A

Siemens

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13
Q

Keratins 1, 9, 16

A

Epidermolytic PPK (Vorner)

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14
Q

Keratins 1 and 16

A

Non-epidermolytic PPK (Unna-Thost; focal)

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15
Q

Keratins 4 and 13

A

White sponge nevus of Cannon

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16
Q

Keratins 5 and 14

A

EBS, Dowling-Meara type
EBS, Koebner type
EBS, Weber-Cockayne type
EBS, with mottled pigmentation

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17
Q

Keratin 14

A

EBS, AR type

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18
Q

Keratin 5

A

Dowling-Degos

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19
Q

Keratins 6a and 16

A

Pachyonychia congenita 1 (Jackson-Lewandrowsky)

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20
Q

Keratins 6b and 17

A

Pachyonychia congenita 2 (Jackson-Lawlor)

21
Q

Keratins t and 17

A

Steatocystoma multiplex

22
Q

Keratins 81, 83 and 86

A

Monilethrix

23
Q

Loricrin

A

Vohwinkel

Progressive symmetric erythrokeratoderma

24
Q

Filaggrin

25
Q

Connexin 26

A

Vohwinkel
KID
PPK with deafness

26
Q

Connexin 30.3, 31

A

Erythrokeratoderma variabilis

27
Q

Connexin 30

A

Hidrotic ectodermal dysplasia

28
Q

Connexin 43

A

Oculo-dental-digital dysplasia

29
Q

Connexin 47

A

Milroy disease (hereditary lymphedema)

30
Q

Chondrodysplasia punctata

A

Conradi-Hunermann
Rhizomelic CDP
XLR CDP
CHILD

31
Q

Conradi-Hunermann

A 
XLD
EBP - defective cholesterol biosynthesis
Blaschkoid ichthyosiform erythroderma resolves by 1 yo with linear and follicular atrophoderma
Cataracts
Stippled epiphyses
Increased risk if mom has SLE
32
Q

CHILD

A

XLD
3b-hydroxysteroid dehydrogenase
Congenital hemidysplasia w ichthyosiform erythroderma and limb defects (all ipsilateral)
Verruciform xanthomas

33
Q

Netherton

A 
AR
SPINK5 encodes LEKT1
At birth with erythroderma 
Ichthyosis linearis circumflexa
Trichorrhexis invaginata
AD
Hyper IgE
Tacrolimus contraindicated
Seb derm
Anaphylactic food allergy
34
Q

KID

A 
Connexin 26
Keratitis Ichthyosis Deafness
Stippled PPK
Progressive b/l keratitis - avoid retinoids
SCC, infections

Porokeratotic eccrine ostial and dermal duct nevus

35
Q

Darier

A 
AD
ATP2A2
Acrokeratosis verruciformis of Hopf - flat warty papules on dorsal hands
Cobblestone oral and rectal mucosae
Recurrent infections
Worsened by lithium
36
Q

Hailey-Hailey

A

AD
ATP2C1
Longitudinal erythronychia

37
Q

Diffuse PPK

A

Vorner
Unna-Thost
Mutilating: mal de meleda
Olmsted
Vohwinkel and variant
PPK w transgradiens: mal de meleda
Papillon-Lefevre
Haim-Munk
Clouston (hidrotic ectodermal dysplasia)

Naxos
EBS, Dowling-Meara

38
Q

Vorner (epidermolytic)

A

AD
K9>1
Diffuse symmetric non-transgrediens
Identical to Unna-Thost but epidermolytic

39
Q

Unna-Thost (non-epidermolytic)

A

AD
K1
Identical to Vorner but not epidermolytic

40
Q

Mal de Meleda

A

AR
SLURP1
Malodorous gloves and stockings
Hyperkeratotic plaques on elbows and knees

41
Q

Olmsted

A

AD
TRPV3
Periorificial keratotic plaques (more severe than in mal de meleda)

42
Q

Vohwinkel

A 
AD
Connexin 26
Diffuse honeycombed PPK
Starfish keratotic plaques over joints
Pseudo-ainhum
Deafness
43
Q

PPK with autoamputation

A 
Vohwinkel
Mal de Meleda
Olmsted
Acral keratoderma
Pachyonychia congenita
44
Q

Vohwinkel variant

A

AD
Loricrin
In contrast to classic has ichthyosis and no deafness

45
Q

Papillon-Lefevre

A

AR
CTSC cathepsin C
Transgrediens and hyperkeratosis over elbows and knees
Severe periodontitis w teeth loss
Pyogenic infections
Asymptomatic dural calcifications of tentorium and choroid attachements

46
Q

Naxos

A 
AR
Plakoglobin
Diffuse PPK 
Woolly hair
Right ventricle arrhythmogenic cardiomyopathy
47
Q

Striate PPK

A

AD
Desmoglein 1 and Desmoplakin
Fingers, palms

48
Q

Howel-Evans

A 
AD
TOC (tylosis and esophageal cancer); inhibits EGFR
Focal pressure-related non-transgrediens
Esophageal cancer
Oral leukoplakia

Genoderms (1 decks)

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