48 - Inherited Palmoplantar Keratodermas

Question 1

Most common form of diffuse keratoderma

Answer 1

Epidermolytic palmoplantar keratoderma

Question 2

Gene mutation: epidermolytic palmoplantar keratoderma

Answer 2

KRT9 (most cases)

KRT1 (minority of cases)

Question 3

Gene mutation: nonepidermolytic palmoplantar keratoderma Unna-Thost type

Answer 3

KRT1

Question 4

Diffuse nonepidermolytic palmoplantar keratoderma may be observed in

Answer 4

Greither syndrome

PPK Bothnia type

Question 5

Gene mutation: Greither syndrome

Answer 5

KRT1

Question 6

Gene mutation: PPK Bothnia type

Answer 6

AQP5

Question 7

Manifests with a white spongy appearance of the palms and soles upon exposure to water

Answer 7

PPK Bothnia type

Question 8

Form of autosomal recessive, progressive, diffuse, mutilating PPK with transgrediens

Answer 8

Mal de Meleda

Question 9

Gene mutation: Mal de Meleda

Answer 9

SLURP1

Question 10

Most common type of PPK in the Asian population

Answer 10

Nagashima-type PPK

Question 11

Diffuse, transgrediens, nonprogressive, nonmulitating PPK

Palmoplantar skin assumes a typical whitish spongy appearance after water immersion

Answer 11

Nagashima-type PPK

Question 12

Gene mutation: Nagashima-type PPK

Answer 12

SERPIN7

Question 13

Diffuse mutilating PPK with periorificial keratotic plaques

Answer 13

Olmsted syndrome

Question 14

Gene mutation: Olmsted syndrome autosomal dominant or autosomal recessive inheritance

Answer 14

TRPV3

Question 15

Gene mutation: Olmsted syndrome X-linked recessive inheritance

Answer 15

MBTPS2

Question 16

Genedermatoses featuring PPK and hearing impairment

Caused by heterozygous mutations in the gene GJB2 encoding connexin 26

Answer 16

Vohwinkel syndrome
Keratosis-ichthyosis-deafness syndrome
Bart-Pumphrey syndrome
PPK with deafness syndrome

Question 17

Mutilating honeycomb-like PPK and starfish-shaped keratotic plaques

Answer 17

Vohwinkel syndrome

Question 18

Erythrokeratoderma, grainy PPK, abnormal ectodermal features, progressive keratitis, and recurrent infections

Answer 18

Keratosis-ichthyosis-deafness syndrome

Question 19

Honeycomb-like PPK
Knuckle pads
Leukoncychia

Answer 19

Bart-Pumphrey syndrome

Question 20

Ectodermal dysplasia associated with diffuse PPK and nail and hair abnormalities
Caused by heterozygous mutations in GJB6 encoding connexin 30

Answer 20

Hidrotic ectodermal dysplasia

Question 21

Hidrotic ectodermal dysplasia also known as

Answer 21

Clouston syndrome

Question 22

Diffuse PPK, scleroatrophy, sclerodactyly, and occurrence of squamous cells carcinomas within atrophic skin
Autosomal dominant inherited trait with unknown etiology

Answer 22

Huriez syndrome

Question 23

Diffuse PPK with transgrediens and severe progressive periodontitis

Answer 23

Papillon-Lefevre syndrome

Question 24

Gene mutation and protein: Papillon-Lefevre syndrome

Answer 24

CTSC

Cathepsin C

Question 25

Cardiocutaneous syndromes featuring PPK, woolly hair, and cardiomyopathy

Answer 25

Naxos disease | Carvajal syndrome

Question 26

Gene mutation and protein: Naxos diseaes

Answer 26

JUP | Plakoglobin

Question 27

Gene mutation and protein: Carvajal syndrome

Answer 27

DSP | Desmoplakin

Question 28

Gene mutation and protein: Carvajal syndrome

Answer 28

DSP | Desmoplakin

Question 29

Diffuse PPK Woolly hair Right ventriculopathy

Answer 29

Naxos disease

Question 30

Striate PPK Woolly hair Left ventriculopathy

Answer 30

Carvajal syndrome

Question 31

Gene mutation: striate PPK

Answer 31

Desmoglein 1 Desmolakin Keratin 1 (lesser degree)

Question 32

Gene mutation and protein: pachyonychia congenita

Answer 32

``` One of five keratin genes KRTA6A - keratin 6a KRT6B - keratin 6b KRT6C - keratin 6c KRT16 - keratin 16 KRT17 - keratin 17 ```

Question 33

Focal painful PPK Thick dystrophic nails with a characteristic appearance Associated features such as leukokeratosis, pilosebaceous cysts, and natal teeth

Answer 33

Pachyonychia congenita

Question 34

Focal PPK Mucosal (particularly esophageal) SCC with associated findings of follicular hypekeratosis and oral leukokeratosis Autosomal dominant disorder

Answer 34

Howel-Evans syndrome

Question 35

Gene mutation and protein: Howel-Evans syndrome

Answer 35

RHBDF2 | iRhom2

Question 36

Painful focal PPK Bilateral keratitis Mental retardation Autosomal recessive disease

Answer 36

Richner-Hanhart syndrome

Question 37

Gene mutation and protein: Richner-Hanhart sydnrome

Answer 37

TAT | Tyrosine aminotransferase

Question 38

Multiple, painful, yellow-brown hyperkeratotic papules on the palms and soles that commonly appear during the first or second decades of life

Answer 38

Punctate PPK type 1

Question 39

Gene mutation and protein: Punctate PPK type 1

Answer 39

One of two genes AAGAB - p34 COL14A1 - collagen type XIV alpha 1

Question 40

Skin-colored to yellow asymptomatic keratotic spines with histopathologic findings resembling cornoid lamella of porokeratosis

Answer 40

Punctate PPK type 2

Question 41

Also known as punctate PPK type 3

Answer 41

Acrokeratoelastoidosis of Costa

Question 42

Also known as punctate PPK type 3

Answer 42

Acrokeratoelastoidosis of Costa

Question 43

Round to oval, white-yellow translucents papules with predilection to the thenar and hypothenar areas and pressure points with histopathologic findings of decreased elastic tissue and fragmented elastic fibers

Answer 43

Punctate PPK type 3

Question 44

Punctate PPK Hypopigmentated macules Possible internal organ calcifications

Answer 44

Cole disease

Question 45

Gene mutation: Cole disease

Answer 45

ENPP1

Question 46

Extension of hyperkeratosis onto the dorsal aspects of the fingers, toes, hands, feet, and flexor aspects of the wrists and heels

Answer 46

Transgrediens

Question 47

Constricting bands around digits

Answer 47

Pseudoainhum