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Flashcards in Diseases/Conditions Deck (40)
1

Congential Ectodermal Dysplasia/ Hypohidrotic ectodermal dysplasia

-Problem with growth or migration of ectoderm
- Defects in ectodyplasin signalling pathway
-X-linked recessive
-Symptoms:square forehead, thin skin, sparse hair, low ears, peg teeth, decreased ability to sweat

2

Lichen Planus

-Purple, planar, pruritic, polygonal, papules/plaques
-greyish streaks over papules (wickham's sign)
- commonly seen on ankles, groin, wrists, lower leg flexures
-may also appear on nails or mucosa

3

Seborrheic Dermatitis

- yellow, greasy scalp rash in infants
- yellow, red papules and scaling in adults

4

Atopic Dermatitis

-red plaque with crusting
-Dennie Morgan folds
-appears on face, sparing the midline in infants
-appears on flexor surfaces on older children

5

Plaque Psoriasis

-Pink with silvery-scale
-Triggered by anti-malarials, interferons, lithium, beta-clockers, steroid withdrawal, Strep A
-Sausage digits
-Nail damage
-pencil in a cup bone deformity
-bleeding when scales removed (Auspitz sign)
- follows trauma (Koebner Phenomenon)
-caused by keratinocyte inflammation

6

PHACES syndrome

Posterior fossa abnormalities
Hemangioma
Arterial Anomalies
Cardiac Anomalies
Eye Anomalies
Supraumbilical Raphe

Suspect this in children with large hemangiomas

7

Sturge- Weber Syndrome

Seizures, developmental delay, congenital glaucoma, red spot in eye

Suspect this in children with port wine stains in the V1 area

8

Tuberous Sclerosis

-Autosomal Dominant mutations of TSC1 or TSC2
-causes non-malignant tumors of the brain, eyes, heart, kidneys, skin, and lungs
-Associated with ash-leaf hypopigmented macules, angiofibromas, shagreen's patch, and periungal fibromas

9

Waardenburg Syndrome

-abnormal melanocyte development
-achromia of hair/skin
-heterochromia of iris
-wide-set eyes
-deafness

10

Piebaldism

-mutation in KIT results in melanocyte migration problems
- white forelock
-depigmented patches with speckles

11

Vitiligo

-T-cell destruction of melanocytes
-progressive disease

12

Oculocutaneous Albinism

-Defect in Tyrosinase (enzyme responsible for melanin synthesis)
-white-yellow/red hair with white-light skin

13

Neurofibramatosis

- Autosomal dominant mutation in neurofibromin
-cafe-au-lait macules, axilla freckling, neurofibromas (wart-like things)

14

Telogen Effluvium

-Increased loss of hair
-stress pushes hair into telogen phase, 3 months later, experiencing increased hair loss
-club hairs seen on examination

15

Alopecia Areata

-Immune system attacks the hair follicle
-increased and progressive hair loss is seen
-nail pits commonly seen

16

Tinea Versicolor

- fungal infection
-round hypo or hyperpigmented patches with overlying scale
-spaghetti and meatballs appearance on microscope

17

Pemphigus Vulgaris

-Autoimmune attack against desmogliens 1 and 3
-Intraepidermal blistering
-Positive Nikolsky's sign
-Fragile blisters

18

Ichthyosis Vulgaris

-Autosomal dominant mutation in profilaggrin
-dry skin with "fish scales"
-hyperlinear palms

19

Marfan Syndrome

-Autosomal Dominant mutation in fibrillin
-Long limbs, spider fingers, aortic aneurysms, myopia

20

Ehlers-Danlos Syndrome

-Mutation in collagen production, assembly, synthesis
-hyperflexible joints, stretchy skin

21

Morphea

-Localized sclerosis, thickened collagen
-violaceous plaques, possible silver overlay
-limb, joint, neuro involvement

22

Systemic Sclerosis (CREST syndrome)

-Autoimmune disease causing widespread sclerosis
-Calcinosis, Reynaud's phenomenon, Esophageal dysmotility, Sclerodactyly, Telangiectasia
-Microstomia

23

Erythema Nodosum

-Reactive Panniculitis
-Tender red nodules on shins
-More common in young women
-Caused by Strep, oral contraceptives, malignancy, and IBD

24

Bullous Pemphigoid

-Autoimmune attacks of hemidesmosome components BP230 and BP180
-starts as pruritic uritcaria and evolves into serous or hematogenous bullae
-Blisters are firm
-Antibodies form line on basement membrane

25

Generalized Atrophic Benign Epidermolysis Bullosa (GABEB)

-Mutation of BP180
-shows non-serous blistering

26

Mucous Membrane Pemphigoid

-Antibody production against basement membrane proteins laminin 332, BP230, BP180 (most common), or integrin
-Blistering of skin and mucous membranes
-Can cause blindness, scarring, strictures
-Associated with malignancy

27

Herlitz Junctional Epidermolysis Bullosa

- Mutated production of laminin 332
-Produces widespread blistering

28

Epidermolysis Bullosa Acquisita

-Antibody production against type 7 collagen
-Blistering and erosion of hands, palms, soles
-hemorrhagic blisters in the mouth, nail dystrophia also involved

29

Dystrophic Epidermolysis Bullosa

-Mutation in collagen 7 production, synthesis
-Blistering and erosion of hands, palms, soles
-hemorrhagic blisters in the mouth, nail dystrophia also involved

30

Dermatitis Herpetiformis

-Caused by cross-reaction from anti-gluten antibodies
-Extremely itchy, red papulo-vesicles
-Common on extensor surfaces

31

Pyoderma gangrenosum

-Rapid, sterile ulceration of the skin
-Dusky border
-Associated with IBD, inflammatory arthritis

32

Porphyria Cutanea Tarda

-Caused by deficient uroporphyrin decarboxylase (heme breakdown)
-Fragile blisters on hands from sun or trauma
-Hypertrichosis of face
-Associated with Hep C, drugs, general liver abuse

33

Cutaneous Sarcoidosis

-Brown/red papules or plagues
-non-caseating granulomas on histology

34

Dermatomyositis

-Heliotrope rash on eyelids
-Photosensitive dermatitis
-Gottron's papules on knuckles
-Nailbed Capillary changes
-Associated with ovarian cancer

35

Lupus

Discoid
-leaves atrophic scars with telangiestasias
-scaly with changed pigmentation
-oral involvement possible

Acute
-Malar rash
-Photosensitive red rash

Subacute
-photosensitive rash, not on face
- annular rash with red border

36

Cushing's Cutaneous Symptoms

-Hyperpigmented Striae distensae

37

Addison's Cutaneous Symptoms

-Hyperpigmented muscosa
-Calcification of auricular cartilage
-Nail pigmentation
-"bronzed" skin pigmentation
-loss of ambisexual hair in women

38

Grave's Disease Cutaneous Symptoms

-Pretibial myxedema (flesh colored bumps) on shins
-Peau d'orange
-Mucin infiltration seen on histology?

39

Thyroid Disease Skin Symptoms
(Hyper- and Hypo-)

Hyperthyroidism
-velvety skin
-increased sweating
-hyperpigmentation of skin
-itching
-hair becomes fine, thin
-onycholysis

Hypothyroidism
-Dry, coarse skin
-cold, pale skin
-thick scaling on feet
-alopecia of lateral third of eyebrow
-thin, brittle nails

40

Diabetes Mellitus Skin Diseases

-Tinea fungus on feet
-Candidiasis (anywhere)
-MRSA infections
-Cellulitis
-Neuropathic Ulcers (mainly foot)
-Various ischemias (mainly foot)
-Acanthosis Nigricans (rare)
-Necrobiosis lipoidica (rare)
-Bullous Diabeticorum (rare)
-Diabetic dermopathy