Dermal Connective Tissue Disorders

Question 1

Treatment options for striae

Answer 1

Tretinoin 0.1%
10% Vit C with 20% glycolic acid
Pulsed dye laser reduce redness
308 nm excimer laser has helped with leukoderma

Question 2

What is atrophoderma of Perini and Pasini?

Answer 2

Usually first to second decade of life
F>M, reported in children <13y
Aetiology unknown - overlap with morphoea and percentage of European have positive Borrelia serology 40-50%
- oval to circular brown to blue/hypopigmented plaques NOT indurated or sclerotic
- appears on back / lumbosacral area, then chest/arms/abdomen.
- face, palms, scalp and soles are SPARED
- lesions have a ‘cliff drop’ sharp demarcation although sometimes this can be slanted
- depressed patches can give impression of inverted plateaus or when multiple have a Swiss cheese appearance
- occasionally dermal blood vessels can be seen

Question 3

Atrophoderma of Perini and Pasini - short natural history of 1-2 years

Answer 3

False - protracted 10-20y

Question 4

Follicular atrophoderma refers to dimple like depressions at follicular orifices

Answer 4

True

Question 5

list Genodermatoses related to follicular atrophoderma

Answer 5

• Bazex-Dupre-Christol (follicular atrophoderma, milia, multiple BCC, X linked DOMINANT, localised hypohidrosis above neck, follicular atrophoderma - multiple ice pick marks on dorsal hands, lower back and elbows but RARELy on the face)
• Conradi-Hunermann-Happle syndrome (X linked dominant chondrodysplasia punctata, females, lethal in males, ichthyosiform streaking in Blaschko lines, replaced by bands of follicular atrophoderma )

Question 6

Atrophoderma vermiculatum occurs in Bazex-Christol-Dupre

Answer 6

False - in Rombo and Loewy-Dietz syndrome

Question 7

Atrophoderma vermiculatum does not benefit from oral isotretinoin

Answer 7

False

Question 8

Piezogenic pedal papules assoc. with collagen disorders only

Answer 8

False - can see in normal population

Question 9

Papular elastorrhexis has so associated extracutaneous anomalies

Answer 9

True

Question 10

Papular elastorrhexis are more compressible and flaccid compared to anetoderma

Answer 10

False - more firm and non compressible

Question 11

Papular elastorrhexis are follicular papules 2-5 mm in diameter

Answer 11

False - non follicular , scattered on the trunk

Question 12

Jadassohn-Pellizzari type primary anetoderma has no preceding inflammatory lesions

Answer 12

False, this is Schweninger-Buzzi

Question 13

Primary anetoderma more common in males

Answer 13

False - females

Question 14

Mid dermal elastolysis related to UV exposure

Answer 14

True - possible relation to tanning

Question 15

Mid dermal elastolysis are discrete perifollicular papules

Answer 15

True

Question 16

2 types of mid dermal elastolysis

Answer 16

1. TYPE I - with site of central hair follicle indented

2. TYPE II - occasionally erythematous patches, telangiectasias, and reticulated erythema can be present

Question 17

Cutis laxa can involves skin but not internal organs

Answer 17

False - involves internal organs

Question 18

List extracutaneous features of cutis laxa

Answer 18

Emphysema - pulmonary complications cause significant morbidity and mortality 
Umbilical and  inguinal hernias
GI and GU tract diverticula
Cardiac or arterial abnormalities
Skeletal or joint involvement
Delayed growth and development

Question 19

Cutis laxa genes?

Answer 19

Mutations in elastin (ELN) and FBN gene with recessive type 1

Question 20

Drugs that cause cutis laxa

Answer 20

Penicillamine, penicillin, SSRIs

Question 21

Marshall syndrome can occur mainly in teenagers and young adults post Sweets

Answer 21

False - infants and young children

Question 22

PXE = sometimes caused by ENPP1 mutations

Answer 22

True, mainly ABCC6 gene but also this one

Question 23

PXE ocular manifestations?

Answer 23

Peau d’orange
Angioid streaks
Optic drusen
Owl eyes - paired hyperpigmented spots, can be detected

Question 24

PXE CVS manifestations

Answer 24

Renovascular hypertension,
Myocardial infarction, angina pectorals
Calcification of vessels — risk thromboembolic events
Mitral valve prolapse

Question 25

PXE GI manifestations

Answer 25

Calcified blood vessels in gastric and intestinal mucosa —> incr propensity for GI haemorrhage Young patient can present with GI bleeding particularly from the stomach

Question 26

GU /pregnancy manifestations of PXE

Answer 26

- no incr risk of miscarriage | May be related to preterm labour however

Question 27

List perforating disorders

Answer 27

``` Perforating GA Perforating PXE Perforating folliculitis Elastosis perforans serpiginosa Reactive perforating collagenosis Perforating calcific elastosis ```

Question 28

Disorders with elastosis perforans serpiginosa

Answer 28

MADPORES - Marfan - ACROGERIA - Down syndrome - PXE and penicillamine - Osteogenesis imperfects - Rothmund-Thompson - Ehler’s Danlos syndrome - Scleroderma

Question 29

Fibromatosis superficial vs. deep

Answer 29

Superficial are Dupuytren (palmar), Ledderhouse (plantar) , Peyronie (penile), knuckle pads (haloderma, exists in Bart Pumphrey with hearing loss and leukonychia), pachydermodactyly (adolescent boys, relate to mechanical trauma. Soft tissue swelling of lat aspect of PIPJ of second to fourth fingers)