Disorders of Cornification

Question 1

arrhythmogenic right ventricular dysplasia/cardiomyopathy (4 genes)

Answer 1

desmocollin 2, desmoglein 2, plakophilin 2, plakoglobin

Question 2

hypotrichosis and recurrent skin vesicles

Answer 2

desmocollin 3

Question 3

striate PPK (2)

Answer 3

desmoglein 1, desmoplakin

Question 4

localized AR hypotrichosis

Answer 4

desmoglein 4

Question 5

AR monilethrix

Answer 5

desmoglein 4

Question 6

carvajal syndrome

Answer 6

desmoplakin

Question 7

skin fragility/wooly hair syndrome

Answer 7

desmoplakin

Question 8

Naxos disease

Answer 8

plakoglobin

Question 9

EBS skin fragility-ectodermal dysplasia

Answer 9

plakophilin 1

Question 10

hypotrichosis simplex of the scalp

Answer 10

corneodesmosin

Question 11

epidermolytic ichthyosis, annular epidermolytic ichthyosis

Answer 11

keratin 1, 10

Question 12

icthyosis hystrix of Curth-Macklin

Answer 12

keratin 1

Question 13

ichthyosis bullosa of Siemens

Answer 13

keratin 2

Question 14

epidermolytic PPK (Vorner)

Answer 14

keratin 1, 9

Question 15

non-epidermolytic PPK (Unna-Thost)

Answer 15

keratin 1

Question 16

white sponge nevus

Answer 16

keratin 4, 13

Question 17

EBS (Dowling-Meara, Koebner, Weber-Cockayne, with mottled pigmentation)

Answer 17

keratin 5, 14

Question 18

EBS with migratory circinate erythema

Answer 18

keratin 5

Question 19

EBS, AR type; Naegeli-Fraceschetti-Jadassohn syndrome; dermatopathia pigmentosa reticularis

Answer 19

keratin 14

Question 20

Dowling-Degos disease

Answer 20

keratin 5

Question 21

PC1 Jadassohn-Lewandowsky

Answer 21

keratin 6a, 16

Question 22

PC2 Jackson-Lawlor

Answer 22

keratin 6b, 17

Question 23

steatocystoma multiplex

Answer 23

keratin 17

Question 24

AD monilethrix

Answer 24

keratin 81, 83, 86

Question 25

pure hair-nail type ectodermal dysplasia

Answer 25

keratin 85

Question 26

Vohwinkel syndrome

Answer 26

loricrin

Question 27

progressive symmetric erythrokeratoderma

Answer 27

loricrin

Question 28

ichthyosis vulgaris/atopic derm

Answer 28

filaggrin

Question 29

x-linked ichthyosis

Answer 29

steroid sulfatase

Question 30

lamellar ichthyosis, congenital ichthyosiform erythroderma

Answer 30

transglutaminase-1

Question 31

harlequin ichthyosis

Answer 31

ABCA12

Question 32

Sjogren-Larsson Syndrome

Answer 32

FALDH

Question 33

Refsum Syndrome

Answer 33

phytanoyl coenzyme A hydroxylase

Question 34

Conradi-Hunermann Syndrome

Answer 34

emopamil-binding protein

Question 35

CHILD Syndrome (congenital hemidysplasia with ichthyosiform erythroderma and limb defects)

Answer 35

NSDHL

Question 36

Netherton Syndrome

Answer 36

SPINK5

Question 37

Keratosis-Ichthyosis-Deafness

Answer 37

GJB2

Question 38

Oculo-Dento-Digital Dysplasia

Answer 38

GJA1

Question 39

Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) Syndrome

Answer 39

MBTPS2

Question 40

Neutral Lipid Storage Disease

Answer 40

CGI-58

Question 41

Darier's

Answer 41

ATP2A2

Question 42

Hailey-Hailey Disease

Answer 42

ATP2C1

Question 43

Mal de Meleda

Answer 43

SLURP-1

Question 44

KLICK Syndrome (Keratosis linearis with ichthyosis congenita and sclerosing keratoderma)

Answer 44

POMP

Question 45

Olmsted syndrome

Answer 45

TRPV3

Question 46

Papillon-Lefevre Syndrome, Haim-Munk Syndrome

Answer 46

cathepsin C

Question 47

Howel-Evans Syndrome

Answer 47

TOC

Question 48

Huriez Syndrome (Sclerotylosis)

Answer 48

TYS

Question 49

Schopf-Schultz-Passarge Syndrome

Answer 49

WNT10A

Question 50

Bart-Pumphrey Syndrome

Answer 50

GJB2

Question 51

Richner-Hanhart

Answer 51

hepatic tyrosine aminotransferase