PPKs and Ectodermal Dysplasias

Question 1

Unna-Thost Syndrome

Answer 1

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

Question 2

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

Answer 2

Unna-Thost PPK (non-epidermolytic)

Question 3

Vorner syndrome

Answer 3

Epidermolytic PPK

K1 or K9

Question 4

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

Answer 4

Vorner syndrome (epidermolytic PPK)

Question 5

Mal de Meleda

Answer 5

SLURP

Question 6

Mutation in Unna-Thost syndrome

Answer 6

K1. (Non-epidermolytic PPK)

Question 7

Mutation in Vorner syndrome

Answer 7

K1 or K9

Question 8

Vorner syndrome is very similar to what other PPK?

Answer 8

Unna-Thost

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

Question 9

Transgrediens PPK with malodor of the hands

Answer 9

Mal de Melinda

Question 10

What facial finding do patients with Mal de Melinda get?

Answer 10

Perioral erythema

Question 11

Mutilating keratoderma and deafness

Answer 11

VonWinkel syndrome

Question 12

Mutation in VonWinkel syndrome

Answer 12

GJ26 (connexin 26)

Question 13

Psuedoainhum

Answer 13

VonWinkel Syndrome

Psuedoainhum is a constriction of the 5th toe

Question 14

What disease is Loricrin mutated in?

Answer 14

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

Question 15

Calcification of the falx/tentorium in a diffuse PPK

Answer 15

Papillon-Lefevre

Question 16

Mutation in Cathepsin C

Answer 16

Papillon-Lefevre

&Haim Munk

Question 17

PPK and periodontitis

Answer 17

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

Question 18

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

Answer 18

Haim Munk

Question 19

Mutation in Haim Munk Disease

Answer 19

Cathepsin C

Question 20

Mutation in Papillon-Lefevre

Answer 20

Cathepsin C

Question 21

Cardiac Finding in Naxos

Answer 21

Right ventricular cardiomyopathy

Question 22

Wooly hair
PPK
Cardiomyopathy

Answer 22

Naxos disease

Question 23

Wooly hair

Answer 23

Naxos

Also carvajal syndrome

Question 24

Mutation in Carvajal syndrome

Answer 24

Desmoplakin

Question 25

Heart finding in Carvajal Syndrome

Answer 25

Dilated cardiomyopathy

Question 26

Dilated cardiomyopathy and woolly hair

Answer 26

Carvajal syndrome

Question 27

Mutilating PPK and periorificial plaques

Answer 27

Olmsted Syndrome

Question 28

Mutilating perioral plaques, PPK

Answer 28

Olmstead

Question 29

Howel-Evans mutation

Answer 29

TOC gene (tylosis-oeophageal carcinoma)

Question 30

Focal PPK over areas of pressure plus esophageal carcinoma

Answer 30

Howel Evans Syndrome

Question 31

TOC gene

Answer 31

Howel Evans syndrome

Question 32

Pseudoherpetic keratitis

Answer 32

Richter-Hanhart Syndrome (Tyroinemia Type II)

Question 33

Another name for Tyrosinemia Type II

Answer 33

Richter-Hanhart Syndrome

Question 34

What do you treat Richner-Hanhart syndrome with?

Answer 34

Diet restricted in tyrosine and phenylalanine

Question 35

PAINFUL focal PPK

Answer 35

Richner-Hanhart Syndrome

Question 36

Painful focal ppk Pseudoherpetic keratitis Progressive MR Treat with diet restriction of tyrosine and phenylalanine

Answer 36

Richter-Hanhart Syndrome

Question 37

Mutation in Richner-Hanhart syndrome

Answer 37

TAT (hepatic tyrosine amino-transferase)

Question 38

Tyrosine keratitis (tyrosine deposits in the eyes)

Answer 38

Richner-Hanhart syndrome

Question 39

Mutation in Striate PPK

Answer 39

Desmo Glenn 1 and desmoplakin 1

Question 40

Hyperkeratotic linear plaques on the volar fingers, proximal palms and soles

Answer 40

Striate PPK

Question 41

Another name for erythrokeratoderma Variabilis

Answer 41

Mendes de Costa

Question 42

Mutation in Mendes de Costa

Answer 42

GJB3, GJB4 (connexin 30.3, 31)

Question 43

Erythematous migratory patches lasting only minutes to days, with fixed hyperkeratotic plaques

Answer 43

Mendes de Costa (erythrokeratoderma variabilis)

Question 44

Connexin 30.3, 31

Answer 44

Same thing as GJB3, GJB4 *Mendes de Costa

Question 45

What cancer is Howell-Evans syndrome at risk for?

Answer 45

Esophageal CA

Question 46

Mutation in Clauston

Answer 46

GJB6 (connexin 30)

Question 47

Hypotrichosis Normal teeth and sweating Diffuse PPK Ocular abnormalities

Answer 47

Clouston Syndrome (hidrotic ectodermal dysplasia)

Question 48

Mutation in connexin 30 (GJB6)

Answer 48

CLOUSTON

Question 49

Mutation in EDA (Ectodysplasin A)

Answer 49

Christ-Siemens-Touraine/ Hypohidrotic Ectodermal Dysplasia

Question 50

``` Periorbital hyperpigmentation ABSENT or conical teeth Sweating with heat intolerance Normal nails Everted thick lips Increased broncopulmonary infections ```

Answer 50

Christ-Siemens-Touraine (Anhidrotic Ectodermal Dysplasia)

Question 51

Gene mutation in ectodermal dysplasia/skin fragility syndrome

Answer 51

Plakophilin-1

Question 52

Plakophilin-1

Answer 52

Ectodermal Dysplasia/Skin fragility syndrome

Question 53

Name some conditions with collodion baby

Answer 53

``` Most common - no bullous congenital erythroderma Lamellar ichthyosis Sjogren Larsson Netherton Hay-Wells syndrome TTD Gaucher Disease Type 2 Ectodermal Dysplasia Neutral Lipid Storage disease ```

Question 54

Painful focal PPK in the first year of life, then developing painful corneal ulcers and painful keratitis

Answer 54

Richner-Hanhart syndrome (defect in tyrosinase)