Dermal Connective Tissue Disorders Flashcards
Treatment options for striae
Tretinoin 0.1%
10% Vit C with 20% glycolic acid
Pulsed dye laser reduce redness
308 nm excimer laser has helped with leukoderma
What is atrophoderma of Perini and Pasini?
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
Atrophoderma of Perini and Pasini - short natural history of 1-2 years
False - protracted 10-20y
Follicular atrophoderma refers to dimple like depressions at follicular orifices
True
list Genodermatoses related to follicular atrophoderma
- 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 )
Atrophoderma vermiculatum occurs in Bazex-Christol-Dupre
False - in Rombo and Loewy-Dietz syndrome
Atrophoderma vermiculatum does not benefit from oral isotretinoin
False
Piezogenic pedal papules assoc. with collagen disorders only
False - can see in normal population
Papular elastorrhexis has so associated extracutaneous anomalies
True
Papular elastorrhexis are more compressible and flaccid compared to anetoderma
False - more firm and non compressible
Papular elastorrhexis are follicular papules 2-5 mm in diameter
False - non follicular , scattered on the trunk
Jadassohn-Pellizzari type primary anetoderma has no preceding inflammatory lesions
False, this is Schweninger-Buzzi
Primary anetoderma more common in males
False - females
Mid dermal elastolysis related to UV exposure
True - possible relation to tanning
Mid dermal elastolysis are discrete perifollicular papules
True
2 types of mid dermal elastolysis
- TYPE I - with site of central hair follicle indented
2. TYPE II - occasionally erythematous patches, telangiectasias, and reticulated erythema can be present
Cutis laxa can involves skin but not internal organs
False - involves internal organs
List extracutaneous features of cutis laxa
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
Cutis laxa genes?
Mutations in elastin (ELN) and FBN gene with recessive type 1
Drugs that cause cutis laxa
Penicillamine, penicillin, SSRIs
Marshall syndrome can occur mainly in teenagers and young adults post Sweets
False - infants and young children
PXE = sometimes caused by ENPP1 mutations
True, mainly ABCC6 gene but also this one
PXE ocular manifestations?
Peau d’orange
Angioid streaks
Optic drusen
Owl eyes - paired hyperpigmented spots, can be detected
PXE CVS manifestations
Renovascular hypertension,
Myocardial infarction, angina pectorals
Calcification of vessels — risk thromboembolic events
Mitral valve prolapse
PXE GI manifestations
Calcified blood vessels in gastric and intestinal mucosa —> incr propensity for GI haemorrhage
Young patient can present with GI bleeding particularly from the stomach
GU /pregnancy manifestations of PXE
- no incr risk of miscarriage
May be related to preterm labour however
List perforating disorders
Perforating GA Perforating PXE Perforating folliculitis Elastosis perforans serpiginosa Reactive perforating collagenosis Perforating calcific elastosis
Disorders with elastosis perforans serpiginosa
MADPORES
- Marfan
- ACROGERIA
- Down syndrome
- PXE and penicillamine
- Osteogenesis imperfects
- Rothmund-Thompson
- Ehler’s Danlos syndrome
- Scleroderma
Fibromatosis superficial vs. deep
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)
