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Dermatology Board Prep > DERM (09) Genodermatoses > Palmoplantar Keratodermas > Flashcards

Palmoplantar Keratodermas Flashcards

1
Q

What are the two broad types of palmoplantar keratodermas?

A

Diffuse versus Focal

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2
Q

What are the diffuse palmoplantar keratodermas?

A

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

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3
Q

What are the focal palmoplantar keratodermas?

A

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

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4
Q

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

A

KRT1, KRT6c

AD

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5
Q

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

A

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)

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6
Q

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

A

2-5 years sometimes later

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7
Q

Does transgrediens occur in Unna-Thost palmoplantar keratoderma?

A

No

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8
Q

What is the most common type of diffuse palmoplantar keratoderma?

A

The Vörner or epidermolytic PPK

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9
Q

Clinical appearance of Unna-Thost (Nonepidermolytic PPK)?

A

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

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10
Q

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

A

Keratin 1/Keratin 9 (KRT1/KRT9)

AD

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11
Q

Does Vörner/epidermolytic PPK have transgrediens?

A

No

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12
Q

Clinical features of Vörner/epidermolytic PPK?

A

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

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13
Q

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

A

SLURP-1

AR

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14
Q

Clinical features of Mal de Meleda PPK?

A

Atopic dermatitis

  • Transgradiens PPK erythematous w/ fissures/hyperhidrosis/maceration/ bad odor/often infected
  • Dystrophic nails
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15
Q

Does Mal de Meleda have transgrediens?

A

Yes

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16
Q

What is the Greither form of PPK?

A

Gene: KRT1 (in some families)

Other name: Transgrediens and Progrediens PPK

AD

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17
Q

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

A

LOR (+ ichthyosis) and GJB2 (+ deafness)

AD

18
Q

Does mutilating (Vohwinkel) PPK have transgrediens?

A

Yes

19
Q

Clinical features of mutilating (Vohwinkel) PPK?

A

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)

20
Q

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

A

CTSC

AR

21
Q

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

A

Yes, diffuse

22
Q

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

A

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
23
Q

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

A

JUP (encodes plakoglobin)

AR

24
Q

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

A

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

25
Q

Does Naxos syndrome have transgrediens?

A

No

26
Q

Do any of the focal PPK’s have transgrediens?

A

No

27
Q

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

A

DSG1

AD

28
Q

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

A

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

29
Q

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

A

DSP (desmoplakin), KRT1, KRT16, and KRT6c

30
Q

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

A

TAT (Tyrosine amino-transferase)

AR

31
Q

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

A

Infancy: ocular dz

Early childhood/adolescence: skin

32
Q

Clinical findings in Richner- Hanhart syndrome?

A

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
33
Q

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

A

KRT16, KRT6a, KRT17, KRT6b

34
Q

What are the two types of pachyonychia congenita?

A

PC1, Jadassohn- Lewandowsky type

C2, Jackson- Lawler type

35
Q

What are the clinical findings in pachyonychia congenita?

A

PC1: more severe NEPPK

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

36
Q

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

A

DSP (desmoplakin)

AR>AD

37
Q

What are the clinical features of Carvajal syndrome?

A

Woolly hair; dilated left ventricular cardiomyopathy (variable onset)

  • Can occasionally have skin fragility, nail dystrophy, hypodontia
38
Q

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

A

RHBDF2/IRHOM2

AD

39
Q

Clinical features in Howel-Evans syndrome?

A

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
40
Q

What is the other name for Howel-Evans syndrome?

A

Tylosis with esophageal cancer

DERM (09) Genodermatoses (13 decks)

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