Genoderms

Question 1

SLC6A19

Answer 1

Hartnup

Question 2

FUCA1 mutation

Answer 2

Fucosidosis

Question 3

Menin

Answer 3

Multiple endocrine neoplasia 1

Question 4

RET Gene

Answer 4

Multiple endocrine neoplasia 2A/2B

Question 5

PTEN gene

Answer 5

PTEN Hamartoma Tumour Syndrome (Cowden)

Question 6

APC gene

Answer 6

Gardner Syndrome

Question 7

MLH1, MSH2, MSH6 mutation

Answer 7

Muir-Torre Syndrome

Question 8

Deficiency of homogentisate 1,2-dioxygenase
(accumulation of homogentisic acid (HGA))

Answer 8

Alkaptonuria (Ochronosis)

Question 9

GLA mutation

Answer 9

Fabry Disease

Question 10

Glucocerebrosidase deficiency

Answer 10

Gaucher Disease

Question 11

Acid sphingomyelinase deficiency
(accumulates phospholipids + sphingomyelin)

Answer 11

Niemann-Pick Disease

Question 12

Phenylalanine hydroxylase deficiency
(cant convert phenylalanine to tyrosine so phenylalanine accumulates)

Answer 12

Phenylketonuria

Question 13

LMNA mutation (Laminins A and C)

Answer 13

Hutchinson-Gilford Progeria Syndrome

Question 14

RECQL2 mutation

Answer 14

Werner Syndrome

Question 15

RECQL4 mutation

Answer 15

Rothmund-Thomson

Question 16

POLD1 gene

Answer 16

MDPL Syndrome

Question 17

Ectodysplasin A (EDA) gene, EDA-receptor mutation

Answer 17

Hypohidrotic Ectodermal Dysplasia

Question 18

IKBKG/NEMO Gene mutation

Answer 18

XLR variant of Hypohidrotic Ectodermal Dysplasia and Immune Deficiency

Question 19

NFKBIA gene mutation

Answer 19

AD variant of Hypohidrotic Ectodermal Dysplasia and Immune Deficiency

Question 20

GJB6 mutation (Connexin 30)

Answer 20

Hidrotic Ectodermal Dysplasia (Clouston Syndrome)

Question 21

MSX1 gene mutation (Muscle segment homeobox 1)

Answer 21

Wiktop Tooth and Nail Syndrome

Question 22

TP63 gene

Answer 22

Ankyloblepharon-Ectodermal defects-Cleft lip/palate syndrome OR Ectodermal dysplasia-Ectrodactyly clefting syndrome

Question 23

IKBKG Gene at Xq28 (NEMO protein)

Answer 23

Incontinentia Pigmenti

Question 24

PORCN gene

Answer 24

Goltz Syndrome (Focal Dermal Hypoplasia)

Question 25

EBP gene

Answer 25

Conradi-Hunermann-Happle Syndrome

Question 26

NSDHL mutation on Xq28

Answer 26

CHILD Syndrome

Question 27

HCCS on Xp22 mutation

Answer 27

MIDAS Syndrome

Question 28

OFD1 mutation on XP22-3-p22.2

Answer 28

Oral-Facial-Digital Syndrome Type 1

Question 29

POLA1 mutation

Answer 29

X Linked Reticulate Pigmentary Disorder

Question 30

G49A in AKT1

Answer 30

Proteus Syndrome

Question 31

GJAJ1 mutation (connexin 43)

Answer 31

ILVEN: Inflammatory Linear Verrucous Epidermal Naevus

Question 32

GJB2 mutation (connexin 26)

Answer 32

Porokeratotic Adnexal Ostial Nevus (PAON) (Mosaic KID syndrome)

Question 33

fibroblast growth factor 1 gene (FGFR1) mutation

Answer 33

Encephalocraniocutaneous Lipomatosis (ECCL, Haberland Syndrome)

Question 34

GNAQ mutation

Answer 34

Sturge-Weber Syndrome OR Phakomatosis pigmentovascularis type 2

Question 35

RASA1 Mutation

Answer 35

Capillary malformation-AV malformation syndrome

Question 36

PTPN11 mutation

Answer 36

LEOPARD Syndrome

Question 37

NF1 mutation

Answer 37

NF1

Question 38

SPRED1 mutation

Answer 38

Legius Syndrome

Question 39

TSC1 gene (hamartin) or TSC2 gene (Tuberin)

Answer 39

Tuberous Sclerosis

Question 40

KRT1 KRT9 mutation

Answer 40

Epidermolytic PPK (Vorner-Unna-Thorst)

Question 41

AQP5 Keratin 1 SERPINB7 SLURP1

Answer 41

Non-Epidermolytic PPK

Question 42

Loricrin Mutation

Answer 42

Vohwinkel Keratoderma with Ichthyosis

Question 43

POMP mutation

Answer 43

KLICK Syndrome

Question 44

GJB2 gene - Gap junction B2 (connexin 26)

Answer 44

Vohwinkel Syndrome, KID Syndrome Bart-Pumphrey

Question 45

RSPO1 (R-spondin-1 gene)

Answer 45

PPK with Sex Reversal and SCC

Question 46

WNT 10 A mutation

Answer 46

Odonto-Onycho-Dermal Dysplasia (Shopf-Shulz- Passarge)

Question 47

TRPV3 (Transient receptor potential vanilloid 3)

Answer 47

AD Variant Olmsted Syndrome (Mutilating PPK with periorificial keratotic plaques)

Question 48

MBTPS2 mutation

Answer 48

XLR Variant Olmsted Syndrome (Mutilating PPK with periorificial keratotic plaques)

Question 49

CTSC Gene (Cathespin)

Answer 49

Papillon-Lefevre and Haim-Munk

Question 50

JUP (Plakoglobin)

Answer 50

NAXOS Disease

Question 51

DSG1 Desmoplakin Keratin 1

Answer 51

Striate PPK (Types 1,2, 3)

Question 52

Keratins 6A, 6B, 6C, 16, 17

Answer 52

Pachyonychia Congenita

Question 53

RHBDF2 (Rhomboid 5 homolog 2 gene)

Answer 53

Howel-Evans Syndrome

Question 54

DSP (Desmoplakin) gene

Answer 54

Carvajal Syndrome

Question 55

AAGAB Adaptin- binding protein p34

Answer 55

PPK Buschke-Fischer-Brauer type Punctate PPK type 1

Question 56

ENPP1 mutation

Answer 56

Cole Disease

Question 57

CAST (calpastatin)

Answer 57

PLACK