PALMOPLANTAR KERATODERMAS

Question 1

Unna-Thost palmoplantar keratoderma (PPK) (non-epidermolytic):

Answer 1

AD, keratin 1

Question 2

AD, keratin 1 & 9

Answer 2

• Vorner PPK (epidermolytic):

Question 3

Diffuse symmetric, non-transgradient PPK

Answer 3

• Vorner PPK (epidermolytic):

Question 4

AD, desmoglein 1 and desmoplakin 1

Answer 4

• Striated PPK (Brunauer-Fohs-Siemens):

Question 5

Malodorous transgradient PPK in glove and stockingdistribution

Answer 5

Mal de Meleda:

Question 6

AR, SLURP-1.

Answer 6

Mal de Meleda

Question 7

Focal, pressure-related, non-transgradient PPK

Answer 7

• Howel-Evans syndrome: AD, TOC gene.

Question 8

Howel-Evans syndrome:

OO

Answer 8

AD, TOC gene

esophageal cancer; oral leukoplakia

Question 9

AD. Sclerosis of skin, nail hypoplasia, PPK.

Answer 9

• Sclerotylosis (Huriez syndrome):

Question 10

• Sclerotylosis (Huriez syndrome): ?%

develop cutaneous SCC and increased risk of bowel cancer

Answer 10

15%

Question 11

AD, type 1: connexin-26; type 2: MTTS1. Mitochondrial serine tRNA mutation

Answer 11

PPK with deafness

Question 12

AD, connexin 26 (GJB2 gene).

Answer 12

Vohwinkel syndrome

Question 13

AD, loricrin. Similar to classic Vohwinkel, plus ichthyosis but no
deafness

Answer 13

• Vohwinkel variant:

Question 14

Diffuse honeycombed PPK, pseudoainhum, starfish-shaped keratotic plaques over joints, deafness

Answer 14

Vohwinkel syndrome

Question 15

. PPK + wooly hair + arrhythmogenic cardiomyopathy

Answer 15

Naxos syndrome

Question 16

Naxos syndrome

Carvajal syndrome,

Answer 16

AR, plakoglobin

AR,desmoplakin

Question 17

• PPK with dilated left-ventricular cardiomyopathy and wooly hair:

Answer 17

Carvajal syndrome,

Question 18

PPK + cystic eyelids + hypodontia + eccrine tumors (eccrine syringofibradenoma)

Answer 18

Schopf-Schulz-Passarge syndrome: AR.

Question 19

AD, connexin 26

Answer 19

• Bart-Pumphrey syndrome:

Question 20

PPK with knuckle pads, leukonychia, deafness

Answer 20

• Bart-Pumphrey syndrome:

Question 21

mutilating PPK with periorificial plaques

Answer 21

Olmsted syndrome:

Question 22

Olmsted syndrome inheritance

Answer 22

AD or XLR;

Question 23

Sharply demarcated, transgradient,

stocking-glove PPK, periodontitis with tooth loss, asymptomatic dural calcification and choroids attachments

Answer 23

Papillon-Lefevre syndrome:

Question 24

AR, Cathepsin C.

Answer 24

Papillon-Lefevre syndrome

Haim-Munk syndrome

Question 25

PPK + periodontitis + acroosteolysis +

onychogryphosis

Answer 25

Haim-Munk syndrome

Question 26

AD, connexin 31 & 30.3 mutations

Answer 26

Erythrokeratodermia variabilis:

Question 27

AD, loricrin. Hyperkeratotic plaques and palmoplantar keratoderma

Answer 27

Symmetric progressive erythrokeratodermia:

Question 28

AR, deficient hepatic tyrosine

aminotransferases.

Answer 28

• Richner-Hanhart syndrome (tyrosenemia type II):

Question 29

Painful PPK, pseudoherpetic keratitis and blindness.

Answer 29

• Richner-Hanhart syndrome (tyrosenemia type II):

Question 30

Richner-Hanhart syndrome Treatment:

Answer 30

low tyrosine/

phenylalanine diet

Question 31

Erythrokeratodermia variabilis:gap junction components encoded by the

Answer 31

GJB3, GJB4 genes

Question 32

Erythematous migratory patches, fixed

hyperkeratotic plaques, palmoplantar keratoderma

Answer 32

Erythrokeratodermia variabilis:

Question 33

Nevus unius lateris; capillary

malformations, café au lait macules, mental retardation and seizures,

Answer 33

• Epidermal Nevus syndrome

Question 34

• Epidermal Nevus syndrome inheritance:

Answer 34

sporadic

Question 35

Epidermal Nevus syndrome Biopsy to rule out epidermolytic

hyperkeratosis, as if positive for EHK then

Answer 35

offspring at risk for generalized EHK

Question 36

deafness, hemiparesis,

hemihypertrophy of limbs, kyphoscoliosis; rare solid tumors.

Answer 36

• Epidermal Nevus syndrome

Question 37

(non-epidermolytic):

Answer 37

Unna-Thost palmoplantar keratoderma (PPK)

Question 38

• Lobster claw, hair, hypodontia, micronychia, clefting

Answer 38

Ectodermal Dysplasia

Question 39

• Ankyloblepharon filforme adnatum, hypophidrosis, abnormal teeth/nails, hair and cleft lip/palate

Answer 39

Ankyloblepharon, Ectodermal Defects, Cleft Lip/Palate Syndrome (AEC Syndrome/Hay-Wells)