Ch. 12 - Genodermatoses

Question 1

Pseudoxanthoma elasticum

(cause?)

Answer 1

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

Mutation in ABCC6 gene (usually AR)

Question 2

Ichthyosis vulgaris

(cause?)

Answer 2

Compact orthohyperkeratosis with paradoxically diminished or absent granular layer.

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

Question 3

Incontinentia pigmenti (Bloch-Sulzberger syndrome)

(cause?)

Answer 3

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

X-linked NEMO mutation resultin in defective NFkB.

Question 4

Mastocytosis

(cause?)

Answer 4

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

Many causes: Urticaria pigmentosa, TMEP, sporadic mastocytoma.

Question 5

Epidermolytic ichthyosis (bullous congenital ichthyosiform erythroderma)

(cause?)

Answer 5

Compact hyperorthokeratosis with vacuolar/granular degeneration of upper epidermis.

Mutations in keratin genes 1/10 (AD)

Question 6

Lipoid proteinosis

Answer 6

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

Question 7

Answer 7

Pseudoxanthoma elasticum

Question 8

Answer 8

Ichthyosis vulgaris

Question 9

Answer 9

Incontinentia pigmenti, vesicular stage

Question 10

Answer 10

Incontinentia pigmenti, verrucous stage

Question 11

Answer 11

Incontinentia pigmenti, pigmented stage

Question 12

Answer 12

Mastocytosis (mastocytoma)

Question 13

Answer 13

Mastocytosis (Telangiectasia macularis eruptiva perstans, TMEP)

Question 14

Answer 14

Epidermolytic hyperkeratosis

Question 15

Answer 15

Lipoid proteinosis