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FPP_MSS > Diseases/Conditions > Flashcards

Diseases/Conditions Flashcards

1
Q

Congential Ectodermal Dysplasia/ Hypohidrotic ectodermal dysplasia

A
  • 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
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2
Q

Lichen Planus

A
  • 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
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3
Q

Seborrheic Dermatitis

A
  • yellow, greasy scalp rash in infants

- yellow, red papules and scaling in adults

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4
Q

Atopic Dermatitis

A
  • red plaque with crusting
  • Dennie Morgan folds
  • appears on face, sparing the midline in infants
  • appears on flexor surfaces on older children
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5
Q

Plaque Psoriasis

A
  • 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
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6
Q

PHACES syndrome

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

Suspect this in children with large hemangiomas

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7
Q

Sturge- Weber Syndrome

A

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

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

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8
Q

Tuberous Sclerosis

A
  • 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
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9
Q

Waardenburg Syndrome

A
  • abnormal melanocyte development
  • achromia of hair/skin
  • heterochromia of iris
  • wide-set eyes
  • deafness
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10
Q

Piebaldism

A
  • mutation in KIT results in melanocyte migration problems
  • white forelock
  • depigmented patches with speckles
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11
Q

Vitiligo

A
  • T-cell destruction of melanocytes

- progressive disease

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12
Q

Oculocutaneous Albinism

A
  • Defect in Tyrosinase (enzyme responsible for melanin synthesis)
  • white-yellow/red hair with white-light skin
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13
Q

Neurofibramatosis

A
  • Autosomal dominant mutation in neurofibromin

- cafe-au-lait macules, axilla freckling, neurofibromas (wart-like things)

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14
Q

Telogen Effluvium

A
  • Increased loss of hair
  • stress pushes hair into telogen phase, 3 months later, experiencing increased hair loss
  • club hairs seen on examination
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15
Q

Alopecia Areata

A
  • Immune system attacks the hair follicle
  • increased and progressive hair loss is seen
  • nail pits commonly seen
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16
Q

Tinea Versicolor

A
  • fungal infection
  • round hypo or hyperpigmented patches with overlying scale
  • spaghetti and meatballs appearance on microscope
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17
Q

Pemphigus Vulgaris

A
  • Autoimmune attack against desmogliens 1 and 3
  • Intraepidermal blistering
  • Positive Nikolsky’s sign
  • Fragile blisters
18
Q

Ichthyosis Vulgaris

A
  • Autosomal dominant mutation in profilaggrin
  • dry skin with “fish scales”
  • hyperlinear palms
19
Q

Marfan Syndrome

A
  • Autosomal Dominant mutation in fibrillin

- Long limbs, spider fingers, aortic aneurysms, myopia

20
Q

Ehlers-Danlos Syndrome

A
  • Mutation in collagen production, assembly, synthesis

- hyperflexible joints, stretchy skin

21
Q

Morphea

A
  • Localized sclerosis, thickened collagen
  • violaceous plaques, possible silver overlay
  • limb, joint, neuro involvement
22
Q

Systemic Sclerosis (CREST syndrome)

A
  • Autoimmune disease causing widespread sclerosis
  • Calcinosis, Reynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly, Telangiectasia
  • Microstomia
23
Q

Erythema Nodosum

A
  • Reactive Panniculitis
  • Tender red nodules on shins
  • More common in young women
  • Caused by Strep, oral contraceptives, malignancy, and IBD
24
Q

Bullous Pemphigoid

A
  • 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
Q

Generalized Atrophic Benign Epidermolysis Bullosa (GABEB)

A
  • Mutation of BP180

- shows non-serous blistering

26
Q

Mucous Membrane Pemphigoid

A
  • 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
Q

Herlitz Junctional Epidermolysis Bullosa

A
  • Mutated production of laminin 332

- Produces widespread blistering

28
Q

Epidermolysis Bullosa Acquisita

A
  • Antibody production against type 7 collagen
  • Blistering and erosion of hands, palms, soles
  • hemorrhagic blisters in the mouth, nail dystrophia also involved
29
Q

Dystrophic Epidermolysis Bullosa

A
  • Mutation in collagen 7 production, synthesis
  • Blistering and erosion of hands, palms, soles
  • hemorrhagic blisters in the mouth, nail dystrophia also involved
30
Q

Dermatitis Herpetiformis

A
  • Caused by cross-reaction from anti-gluten antibodies
  • Extremely itchy, red papulo-vesicles
  • Common on extensor surfaces
31
Q

Pyoderma gangrenosum

A
  • Rapid, sterile ulceration of the skin
  • Dusky border
  • Associated with IBD, inflammatory arthritis
32
Q

Porphyria Cutanea Tarda

A
  • 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
Q

Cutaneous Sarcoidosis

A
  • Brown/red papules or plagues

- non-caseating granulomas on histology

34
Q

Dermatomyositis

A
  • Heliotrope rash on eyelids
  • Photosensitive dermatitis
  • Gottron’s papules on knuckles
  • Nailbed Capillary changes
  • Associated with ovarian cancer
35
Q

Lupus

A

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
Q

Cushing’s Cutaneous Symptoms

A

-Hyperpigmented Striae distensae

37
Q

Addison’s Cutaneous Symptoms

A
  • Hyperpigmented muscosa
  • Calcification of auricular cartilage
  • Nail pigmentation
  • “bronzed” skin pigmentation
  • loss of ambisexual hair in women
38
Q

Grave’s Disease Cutaneous Symptoms

A
  • Pretibial myxedema (flesh colored bumps) on shins
  • Peau d’orange
  • Mucin infiltration seen on histology?
39
Q

Thyroid Disease Skin Symptoms

Hyper- and Hypo-

A

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
Q

Diabetes Mellitus Skin Diseases

A
  • 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

FPP_MSS (30 decks)

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