Cornification

Question 1

Ichthyosis vulgaris

Answer 1

AD
Profilaggrin
Spares flexures

Question 2

X-linked ichthyosis

Answer 2

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

Question 3

Lamellar ichthyosis

Answer 3

AR
TGM1; ABCA12; CYP4F22
Collodion baby

Question 4

Epidermolytic ichthyosis (EHK), bullous CIE

Answer 4

AD
K1 - PPK
K10 - no PPK
Corrugated cardboard

Question 5

Ichthyosis bullosa of Siemens

Answer 5

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

Question 6

Congenital ichthyosiform erythroderma - nonbullous CIE

Answer 6

TGM1; ALOX 12B/E3

Collodion baby

Question 7

Harlequin ichthyosis

Answer 7

AR/sporadic
ABCA12
No lamellar granules
Decreased calpain

Question 8

Sjogren-Larrson

Answer 8

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

Question 9

Refsum

Answer 9

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

Question 10

Genoderms with cryptochordism

Answer 10

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

Question 11

Keratin 1 and 10

Answer 11

Bullous CIE

Question 12

Keratin 2

Answer 12

Siemens

Question 13

Keratins 1, 9, 16

Answer 13

Epidermolytic PPK (Vorner)

Question 14

Keratins 1 and 16

Answer 14

Non-epidermolytic PPK (Unna-Thost; focal)

Question 15

Keratins 4 and 13

Answer 15

White sponge nevus of Cannon

Question 16

Keratins 5 and 14

Answer 16

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

Question 17

Keratin 14

Answer 17

EBS, AR type

Question 18

Keratin 5

Answer 18

Dowling-Degos

Question 19

Keratins 6a and 16

Answer 19

Pachyonychia congenita 1 (Jackson-Lewandrowsky)

Question 20

Keratins 6b and 17

Answer 20

Pachyonychia congenita 2 (Jackson-Lawlor)

Question 21

Keratins t and 17

Answer 21

Steatocystoma multiplex

Question 22

Keratins 81, 83 and 86

Answer 22

Monilethrix

Question 23

Loricrin

Answer 23

Vohwinkel

Progressive symmetric erythrokeratoderma

Question 24

Filaggrin

Answer 24

IV

AD

Question 25

Connexin 26

Answer 25

Vohwinkel KID PPK with deafness

Question 26

Connexin 30.3, 31

Answer 26

Erythrokeratoderma variabilis

Question 27

Connexin 30

Answer 27

Hidrotic ectodermal dysplasia

Question 28

Connexin 43

Answer 28

Oculo-dental-digital dysplasia

Question 29

Connexin 47

Answer 29

Milroy disease (hereditary lymphedema)

Question 30

Chondrodysplasia punctata

Answer 30

Conradi-Hunermann Rhizomelic CDP XLR CDP CHILD

Question 31

Conradi-Hunermann

Answer 31

``` 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 ```

Question 32

CHILD

Answer 32

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

Question 33

Netherton

Answer 33

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

Question 34

KID

Answer 34

``` Connexin 26 Keratitis Ichthyosis Deafness Stippled PPK Progressive b/l keratitis - avoid retinoids SCC, infections ``` Porokeratotic eccrine ostial and dermal duct nevus

Question 35

Darier

Answer 35

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

Question 36

Hailey-Hailey

Answer 36

AD ATP2C1 Longitudinal erythronychia

Question 37

Diffuse PPK

Answer 37

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

Question 38

Vorner (epidermolytic)

Answer 38

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

Question 39

Unna-Thost (non-epidermolytic)

Answer 39

AD K1 Identical to Vorner but not epidermolytic

Question 40

Mal de Meleda

Answer 40

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

Question 41

Olmsted

Answer 41

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

Question 42

Vohwinkel

Answer 42

``` AD Connexin 26 Diffuse honeycombed PPK Starfish keratotic plaques over joints Pseudo-ainhum Deafness ```

Question 43

PPK with autoamputation

Answer 43

``` Vohwinkel Mal de Meleda Olmsted Acral keratoderma Pachyonychia congenita ```

Question 44

Vohwinkel variant

Answer 44

AD Loricrin In contrast to classic has ichthyosis and no deafness

Question 45

Papillon-Lefevre

Answer 45

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

Question 46

Naxos

Answer 46

``` AR Plakoglobin Diffuse PPK Woolly hair Right ventricle arrhythmogenic cardiomyopathy ```

Question 47

Striate PPK

Answer 47

AD Desmoglein 1 and Desmoplakin Fingers, palms

Question 48

Howel-Evans

Answer 48

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