Abn Of Dermal Fibrous And Elastic Tissue

Question 1

Fibrillar collagens

Answer 1

I, II, III, V, XI

Question 2

Most abundant collagen in skin

Answer 2

I

Question 3

Type III collagen

Answer 3

Fetal skin and blood vessels

Up to 40% in inflamed skin

Question 4

Fiber associated collagens

Answer 4

VIII, IX, XIV

Found on the surface of type I and II collagen and act as flexible spacers btw fibrils

Question 5

Angiotensin II type 1 receptor

Answer 5

Stimulation increases collagen production and inhibits degradation.

Type 2 has reverse effect

Question 6

EPS prognosis

Answer 6

Spontaneous recovery from 6 mo to 5 yrs with scarring

More persistent in downs

Question 7

EPS reported with

Answer 7

Vasoocclusive dz and stroke

Question 8

RPC prognosis

Answer 8

Reaches max size in 4 weeks then regresses over 6 to 8 weeks

Question 9

PXE

Answer 9

Lax and redundant skin
Unchallenged comedones and milia en plaque
Exaggerated NL folds and mental crease in pt under 30
Angiostatin streaks before skin

Skin + angiod streaks = gronblad strandberg syndrome

Question 10

Angiod streaks

Answer 10

EDS, pagets, sickle cell

Question 11

Drusen like spots

Answer 11

PXE, show increased fluorescence vs age related drusen

Question 12

EDS oral manifestations

Answer 12

Supernumerary teeth and odontogenic keratocysts

Question 13

Spheroids in EDS

Answer 13

Ca from fat necrosis

Aortic root dilation seen in 20% of EDS

Question 14

Ectopia lentis MC in marfans

Answer 14

If cysteine substitution in fibrillin 1 gene

Question 15

Homocystenuria

Answer 15

Increased homo and methionine

Decrease cysteine

Question 16

Found in homo and not marfans

Answer 16

Osteoporosis and a./ v. Thrombosis

Downward lens

Question 17

Diet recommended for homocysteinuria

Answer 17

Methionine free with betaine supp
Avoidance of alfalfa and bean sprouts
Vit C ameliorates endothelial dysfunction

Question 18

Cutis Laxa names

Answer 18

Dermatomegaly
Dermatolysis chalazoderma
Pachydermatocele

Recessive form MC and more severe with internal inv

Question 19

AD cutis laxa

Answer 19

Elastin gene

Question 20

Nonfamilial cutis laxa cases

Answer 20

Seen in urticaria, lupus, glomerulonephritis, plasma cell dyscrasia, systemic amyloid

Isolated acral dz associated with myeloma and RA

Question 21

De barsey

Answer 21

Severe cutis laxa, MR, growth retardation, joint laxity ocular and skeletal dz

Question 22

Blepharochalasis

Answer 22

Lax eyelid skin, usually BL

Lack of elastic fibers and IgA deposits

Question 23

Ascher syndrome

Answer 23

Blepharochalasis and progressive enlargement of the upper lip (double lip)
Tx is surgical

Question 24

MC location for anetoderma

Answer 24

Shoulders, upper arms, thighs

Question 25

Anetoderma associations

Answer 25

Up to 1/2 have lupus, antiphospholipid ab, graves, scleroderma, low C’, hypergamma, HIV

Question 26

Anetoderma of prematurity

Answer 26

Related to pressure, adhesives, changes in flow of ions or water under leads, intrauterine borrheliosis

Question 27

Striae

Answer 27

Decreased upper dermal collagen, lie parallel to epi

Increases elastin fibers

Question 28

Linear focal elastosis

Answer 28

Males
Increased elastic fibers
Fig 25.9

Question 29

OI

Answer 29

Lobstein syndrome

Question 30

Brack syndrome

Answer 30

OI + arthrogryposis