Dermatology exam Flashcards
Cafe-au lait macules
normal: <1 in 35% children
familial
syndromes:
- McCune Albright syndrome (coast of Maine)
- NF1 (60% if >5)
- Legius syndrome
- Noonan
- LEOPARD syndrome
- ataxia-telangiectasia
- PTEN hamartoma syndrome
- Russell-Silver syndrome
- Blood syndrome
Rash
Lesion
Mongolian blue spot
cause: concentration of melanocytes depp in dermis
prognosis: gone by 4 years
Lipodystrophy
definition: loss of subcutaneous fat
generalised:
- congenital/acquired
- tall, advanced skeletal age, prominent muscles
- acanthosis nigricans, hiruitism, HM, IDDM
- renal/cardiac/neurological/seizures/DD
- hyperinsulinaemia, hypertriglyceridaemia
- GH low
partial:
- F>M
- develops over months to years
- symmetrical subcutaneous fat loss over face, trunk and arms
- chronic GN in 25% with low C3
Vitiligo
clinical:
- symmetrical, white depigmented patches
associations:
- AI diseases: thyroid, DM, pernicious anaemia, Addison’s
prognosis:
- spontaneous repigmentation in 20%
Ichthyosis
definition: dry, thickened skin
types:
- ichthyosis vulgaris: AD
- XLR
- lamellar ichthyosis: AR or AD
- bullous ichthyosiform erythroderma: AD
- nonbullous ichthyosiform erythroderma: AR
issues
- corneal dystrophy, ectropion
- faltering growth
Ectodermal dysplasia
definition: primary defect in teeth, nails, hair or other ectodermal tissue (eyes/ears/oral)
genetics: multiple defects most XLR
clinical:
nails: thick, dystrophic, fragile
skin: atrophic, dry, wrinkled
scalp: sparse hair
facies: thick lips, saddle nose, frontal bossing, maxillary dysplasia, cleft lip/palate
eyes: dry
mucosa: dry, thick secretions
Epidermolysis bullosa
definition: development vesicles, bullae, erosions
Epidermolysis bullosa simplex AD: non scarring from birth improves with time
Junctional epidermolysis bullosa AR: lethal and non lethal, mucosa, nails, teeth and secondary infection
Dystrophic epidermolysis bullosa AR/AR: most severe, entire skin with minor traum, mucosa with stricture
