PPKs and Ectodermal Dysplasias Flashcards Preview

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Flashcards in PPKs and Ectodermal Dysplasias Deck (54)
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1

Unna-Thost Syndrome

Non-epidermolytic PPK
AD
KQ
*ppk with erythematous border, secondary tinea, pitted keratolysis, no trangrediens

2

PPK with erythematous border, hyperhidrosis, secondary tinea reactions, pitted keratolysis, no transgrediens

Unna-Thost PPK (non-epidermolytic)

3

Vorner syndrome

Epidermolytic PPK
K1 or K9

4

clinically similar to Unna Thost PPK but with epidermolytic hyperkeratosis on path

Vorner syndrome (epidermolytic PPK)

5

Mal de Meleda

SLURP

6

Mutation in Unna-Thost syndrome

K1. (Non-epidermolytic PPK)

7

Mutation in Vorner syndrome

K1 or K9

8

Vorner syndrome is very similar to what other PPK?

Unna-Thost

(Basically its the same )K1,K9) except Vorner has epidermolytic hyperkeratosis on path)

9

Transgrediens PPK with malodor of the hands

Mal de Melinda

10

What facial finding do patients with Mal de Melinda get?

Perioral erythema

11

Mutilating keratoderma and deafness

VonWinkel syndrome

12

Mutation in VonWinkel syndrome

GJ26 (connexin 26)

13

Psuedoainhum

VonWinkel Syndrome

(Psuedoainhum is a constriction of the 5th toe)

14

What disease is Loricrin mutated in?

VonWinkel variant! (You get no deafness but more icthyosis)

15

Calcification of the falx/tentorium in a diffuse PPK

Papillon-Lefevre

16

Mutation in Cathepsin C

Papillon-Lefevre
&Haim Munk

17

PPK and periodontitis

Papillon-Lefevre and Haim Munk (Haim Munk also has onychogryphosis

18

PPK with periodontitis (trench mouth) and onychogryphosis (rams nails)

Haim Munk

19

Mutation in Haim Munk Disease

Cathepsin C

20

Mutation in Papillon-Lefevre

Cathepsin C

21

Cardiac Finding in Naxos

Right ventricular cardiomyopathy

22

Wooly hair
PPK
Cardiomyopathy

Naxos disease

23

Wooly hair

Naxos

(Also carvajal syndrome)

24

Mutation in Carvajal syndrome

Desmoplakin

25

Heart finding in Carvajal Syndrome

Dilated cardiomyopathy

26

Dilated cardiomyopathy and woolly hair

Carvajal syndrome

27

Mutilating PPK and periorificial plaques

Olmsted Syndrome

28

Mutilating perioral plaques, PPK

Olmstead

29

Howel-Evans mutation

TOC gene (tylosis-oeophageal carcinoma)

30

Focal PPK over areas of pressure plus esophageal carcinoma

Howel Evans Syndrome