Chapter 3: Genodermatoses Ppk's

Front 1

Unna-Thost PPK (Non-Epidermolytic) is AD and caused by a mutation in what keratin?

Back 1

Keratin 1

Front 2

Vorner PPK (Epidermolytic) is AD and caused by a mutation in what 2 keratins?

Back 2

Keratins 1 and 9

Front 3

Striated PPK (Brunauer-Fohs-Siemens) is AD and caused by a mutation in what 2 proteins?

Back 3

1) Desmoglein 1
2) Desmoplakin 1

Front 4

This AR is leads to malodorous transgradient PPK in a glove and stocking distribution.

Back 4

Mal de Meleda

Front 5

Mal de Meleda is AR and caused by a mutation in what gene?

Back 5

SLURP-1

Front 6

Howel-Evans Syndrome is an AD, focal, pressure-related, non-transgradient PPK caused by mutation in what gene?

Back 6

TOC gene

Front 7

This PPK syndrome is associated with esophageal cancer and oral leukoplakia

Back 7

Howel-Evans Syndrome

Front 8

Sclerotylosis (Huriez Syndrome) is AD and increased risk of what type of skin cancer?

Back 8

15% develop SCC's

Front 9

Which type of PPK is associated with increased risk of bowel cancer?

Back 9

Sclerotylosis (Huriez Syndrome)

Front 10

Which PPK syndrome is associated with sclerosis of the skin, nail hypoplasia and PPK?

Back 10

Sclerotylosis (Huriez Syndrome)

Front 11

Type 1, PPK with deafness is associated with a mutation in what?

Back 11

Connexin 26

Front 12

Type 2, PPK with deafness is associated with a mutation in what?

Back 12

MTTS1

Front 13

Which PPK is AD and associated with diffuse honeycombed PPK, pseudoainhum, star-fish shaped keratotoic plaques over joints and deafness

Back 13

Vohwinkel Syndrome

Front 14

Vohwinkel Syndrome is associated with a mutation in what gene?

Back 14

Connexin-26 (GJB2 gene)

Front 15

Starfish shaped plaques over the joints is associated with what PPK syndrome?

Back 15

Vohwinkel Syndrome

Front 16

This type of PPK is similar to classic Vohwinkel's but also has ichthyosis and no deafness.

Back 16

Vohwinkel variant PPK

Front 17

The Vohwinkel variant PPK is associated with what mutation

Back 17

Loricrin

Front 18

Naxos Syndrome is caused by a mutation in what protein?

Back 18

Plakoglobin

Front 19

This AR syndrome is characterized by PPK, Wooly Hair, and Arrhythmogenic Cardiomyopathy.

Back 19

Naxos Syndrome

Front 20

What AR syndrome is PPK with dilated left-ventricular cardiomyopathy and wooly hair?

Back 20

Carvajal Syndrome

Front 21

What mutation is associated with Carvajal Syndrome?

Back 21

Desmoplakin

Front 22

What AR syndrome? PPK, Cystic eyelids, Hypodontia, Eccrine Tumors (Eccrine Syringofibradenoma)

Back 22

Schopf-Schulz-Passarge Syndrome

Front 23

Bart-Pumphrey Syndrome is caused by a mutation in what?

Back 23

Connexin 26

Front 24

What AD syndrome? PPK with Knuckle Pads, Leukonychia, and deafness

Back 24

Bart-Pumphrey Syndrome

Front 25

What 3 syndromes are have PPK with deafness and caused by a mutation in Connexin 26?

Back 25

1) Vohwinkel Syndrome
2) PPK with Deafness
3) Bart-Pumphrey Syndrome

Front 26

What type of inheritance is seen with Olmsted syndrome?

Back 26

AD or XLR

Front 27

Mutilating PPK with periorficial plaques?

Back 27

Olmsted Syndrome

Front 28

This AR syndrome is caused by a mutation in Cathepsin C

Back 28

Papillon-Lefevre Syndrome

Front 29

Papillon-Lefevre Syndrome causes sharply demarcated tansgradient, stocking-glove PPK with periodontitis with tooth loss and what brain finding?

Back 29

Asymptomatic dural calcification and choroids attachements

Front 30

What 2 syndromes are caused by mutation in Cathepsin C?

Back 30

1) Papillon-Lefevre Syndrome
2) Haim-Munk Syndrome

Front 31

What AR syndrome?
1) PPK
2) Periodontitis
3) Acroosteolysis
4) Onychogryphosis

Back 31

Haim-Munk Syndrome

Front 32

Haim-Munk Syndrome is caused by a mutation in what?

Back 32

Cathepsin C

Front 33

Erythrokeratodermia Variabilis is an AD PPK and associated with mutations in what 2 gap junctions?

Back 33

Connexin 31 and 30.3
(Encoded by GJB3 and GJB4 genes)

Front 34

What dz causes erythematous migratory patches, fixed hyperkeratotic plaques and PPK?

Back 34

Erythrokeratodermia Variabilis

Front 35

This AD cuauses hyperkeratotic plaques and PPK

Back 35

Symmetric progressive erythrokeratodermia

Front 36

The Vohwinkel varient PPK and what other syndrome is caused by a mutation in Loricrin?

Back 36

Symmetric Progressive Erythrokeratodermia

Front 37

What AR syndrome seen with deficient hepatic tyrosine aminotransferases?

Back 37

Richner-Hanhart Syndrome (Tyrosenemia type 2)

Front 38

Richner-Hanhart Syndrome (Tyrosenemia type 2) is characterized by painful PPK and what other 2 eye findings?

Back 38

1) Pseudoherpetic keratitis
2) Blindness

Front 39

What is the tx for Richner-Hanhart Syndrome (Tyrosenemia type 2)?

Back 39

Low tyrosine/phenylalanine diet

Front 40

This syndrome causes Nevus unius lateris, Capillary malformations, Cafe au lait macules, MRDD with seizures, Deafness, Hemiparesis, hemihypertrophy of limbs, kyphoscoliosis and rare solid tumors

Back 40

Epidermal Nevus Syndrome