Palmoplantar Keratodermas

Question 1

What are the two broad types of palmoplantar keratodermas?

Answer 1

Diffuse versus Focal

Question 2

What are the diffuse palmoplantar keratodermas?

Answer 2

Unna Thost, Vömer, Mal de Meleda, Gleiter, Mutilating (Vohwinkel), Papillon-Lefèvre, Naxos disease

Question 3

What are the focal palmoplantar keratodermas?

Answer 3

Striate type/Areata type, Richner-Hanhart syndrome, Pachyonychia, Carvajal Syndrome, Howel-Evans syndrome

Question 4

What is the inheritance pattern and genes involved in Unna-Thost diffuse plmoplantar keratoderma?

Answer 4

KRT1, KRT6c

AD

Question 5

What is “transgrediens” in the setting of palmoplantar keratodermas?

Answer 5

A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles’ tendon (transgrediens)

Question 6

What is the age of onset for Unna-Thost palmoplantar keratoderma?

Answer 6

2-5 years sometimes later

Question 7

Does transgrediens occur in Unna-Thost palmoplantar keratoderma?

Answer 7

No

Question 8

What is the most common type of diffuse palmoplantar keratoderma?

Answer 8

The Vörner or epidermolytic PPK

Question 9

Clinical appearance of Unna-Thost (Nonepidermolytic PPK)?

Answer 9

Diffuse, well-demarcated PPK w/ yellow hue; hyperhidrosis Histology w/ prominent orthokeratosis

Question 10

What are the genes involved and the mode of inheritance for Vörner/epidermolytic PPK?

Answer 10

Keratin 1/Keratin 9 (KRT1/KRT9)

AD

Question 11

Does Vörner/epidermolytic PPK have transgrediens?

Answer 11

No

Question 12

Clinical features of Vörner/epidermolytic PPK?

Answer 12

Clinically identical to diffuse nonepidermolytic PPK, but histology shows epidermolytic hyperkeratosis

Question 13

What is the mode of inheritance and gene involved in Mal de Meleda PPK?

Answer 13

SLURP-1

AR

Question 14

Clinical features of Mal de Meleda PPK?

Answer 14

Atopic dermatitis

• Transgradiens PPK erythematous w/ fissures/hyperhidrosis/maceration/ bad odor/often infected
• Dystrophic nails

Question 15

Does Mal de Meleda have transgrediens?

Answer 15

Yes

Question 16

What is the Greither form of PPK?

Answer 16

Gene: KRT1 (in some families)

Other name: Transgrediens and Progrediens PPK

AD

Question 17

What are the mode of inheritance and genes involved in mutilating (Vohwinkel) PPK?

Answer 17

LOR (+ ichthyosis) and GJB2 (+ deafness)

AD

Question 18

Does mutilating (Vohwinkel) PPK have transgrediens?

Answer 18

Yes

Question 19

Clinical features of mutilating (Vohwinkel) PPK?

Answer 19

Honeycombed palmar PPK, pseudoainhum (esp. fifth finger – constriction bands leads to autoamputation), starfish keratoses on the knuckles/ feet/elbows/knees, linear keratoses on elbows/knees, sensorineural deafness (Cx26), and generalized ichthyosis (loricrin)

Question 20

What is the inheritance pattern and gene of Papillon-Lefèvre syndrome?

Answer 20

CTSC

AR

Question 21

Does Papillon- Lefèvre syndrome/PPK w/ periodontitis have transgrediens?

Answer 21

Yes, diffuse

Question 22

What are the clinical features of Papillon- Lefèvre syndrome/PPK w/ periodontitis?

Answer 22

Transgradiens PPK w/ erythema/hyperhidrosis/terrible odor (soles > palms)

• Pyogenic infections
• Periodontitis/gingivitis leading to premature loss of teeth, psoriasiform lesions on elbows/ knees, and pyogenic infections
• Dural calcification

Question 23

What is the inheritance pattern and genes involved in Naxos disease (Diffuse NEPPK w/ wooly hair and cardiomyopathy)?

Answer 23

JUP (encodes plakoglobin)

AR

Question 24

Clinical features of Naxos disease/Diffuse NEPPK w/ wooly hair and cardiomyopathy?

Answer 24

Woolly hair; arrhythmias and right ventricular cardiomyopathy (versus Carvajal syndrome) develop during adolescence

Question 25

Does Naxos syndrome have transgrediens?

Answer 25

No

Question 26

Do any of the focal PPK's have transgrediens?

Answer 26

No

Question 27

What is the inheritance pattern and genes involved in Striate type of focal PPK?

Answer 27

DSG1 AD

Question 28

Clinical features of both the striate and areata type of focal PPK?

Answer 28

Striate on palms and islands on feet, presentation can be variable

Question 29

What genes are involved in the areata type of focal PPK?

Answer 29

DSP (desmoplakin), KRT1, KRT16, and KRT6c

Question 30

What is the inheritance and gene involved in the Richner-Hanhart syndrome?

Answer 30

TAT (Tyrosine amino-transferase) AR

Question 31

What is the timeline for clinical progression of Richner- Hanhart syndrome?

Answer 31

Infancy: ocular dz Early childhood/adolescence: skin

Question 32

Clinical findings in Richner- Hanhart syndrome?

Answer 32

Focal painful PPK on weight-bearing areas - Dendritic keratitis, corneal ulcers, and blindness (ocular findings prior to skin findings) - Hyperkeratosis of elbows/knees - Mental retardation

Question 33

What are the genes involved and the inheritance pattern in pachyonychia congenita?

Answer 33

KRT16, KRT6a, KRT17, KRT6b

Question 34

What are the two types of pachyonychia congenita?

Answer 34

PC1, Jadassohn- Lewandowsky type C2, Jackson- Lawler type

Question 35

What are the clinical findings in pachyonychia congenita?

Answer 35

PC1: more severe NEPPK PC2: **steatocystoma multiplex** and eruptive vellus hair cysts more common. Also has natal teeth

Question 36

What is the mode of inheritance and the gene involved in Carvajal syndrome?

Answer 36

DSP (desmoplakin) AR\>AD

Question 37

What are the clinical features of Carvajal syndrome?

Answer 37

Woolly hair; dilated left ventricular cardiomyopathy (variable onset) - Can occasionally have skin fragility, nail dystrophy, hypodontia

Question 38

What is the mode of inheritance and gene involved in Howel-Evans syndrome?

Answer 38

RHBDF2/IRHOM2 AD

Question 39

Clinical features in Howel-Evans syndrome?

Answer 39

Thick yellow PPK on weight-bearing areas (heels and balls of feet) starting in the second decade - A significant risk for development of esophageal cancer in the third to the fifth decade

Question 40

What is the other name for Howel-Evans syndrome?

Answer 40

Tylosis with esophageal cancer