Ch. 12 - Genodermatoses Flashcards Preview

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Flashcards in Ch. 12 - Genodermatoses Deck (15)
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1
Q

Pseudoxanthoma elasticum

(cause?)

A

Curled/frayed and calcified elastic fibers in the reticular dermis. Use Verhoeff or Von Kossa.

Mutation in ABCC6 gene (usually AR)

2
Q

Ichthyosis vulgaris

(cause?)

A

Compact orthohyperkeratosis with paradoxically diminished or absent granular layer.

Deficiency in profilaggrin, can be acquired with cancer or niacin therapy.

3
Q

Incontinentia pigmenti (Bloch-Sulzberger syndrome)

(cause?)

A

Vesicular stage (eosinophilic spongiosis), verrucous stage (hyperkeratosis & papillomatosis), pigmented stage (pigment incontinence)

X-linked NEMO mutation resultin in defective NFkB.

4
Q

Mastocytosis

(cause?)

A

Uniformly spaced mast cells in the papillary dermis. Can have bullae, basal layer hyperpigmentation, and eosinophils.

Many causes: Urticaria pigmentosa, TMEP, sporadic mastocytoma.

5
Q

Epidermolytic ichthyosis (bullous congenital ichthyosiform erythroderma)

(cause?)

A

Compact hyperorthokeratosis with vacuolar/granular degeneration of upper epidermis.

Mutations in keratin genes 1/10 (AD)

6
Q

Lipoid proteinosis

A

Hyperkeratosis with extensive dermal deposites of hyaline material (often concentric and vertically oriented around adnexae).

7
Q
A

Pseudoxanthoma elasticum

8
Q
A

Ichthyosis vulgaris

9
Q
A

Incontinentia pigmenti, vesicular stage

10
Q
A

Incontinentia pigmenti, verrucous stage

11
Q
A

Incontinentia pigmenti, pigmented stage

12
Q
A

Mastocytosis (mastocytoma)

13
Q
A

Mastocytosis (Telangiectasia macularis eruptiva perstans, TMEP)

14
Q
A

Epidermolytic hyperkeratosis

15
Q
A

Lipoid proteinosis