Diseases/Conditions Flashcards
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
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
Seborrheic Dermatitis
- yellow, greasy scalp rash in infants
- yellow, red papules and scaling in adults
Atopic Dermatitis
- red plaque with crusting
- Dennie Morgan folds
- appears on face, sparing the midline in infants
- appears on flexor surfaces on older children
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
PHACES syndrome
Posterior fossa abnormalities Hemangioma Arterial Anomalies Cardiac Anomalies Eye Anomalies Supraumbilical Raphe
Suspect this in children with large hemangiomas
Sturge- Weber Syndrome
Seizures, developmental delay, congenital glaucoma, red spot in eye
Suspect this in children with port wine stains in the V1 area
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
Waardenburg Syndrome
- abnormal melanocyte development
- achromia of hair/skin
- heterochromia of iris
- wide-set eyes
- deafness
Piebaldism
- mutation in KIT results in melanocyte migration problems
- white forelock
- depigmented patches with speckles
Vitiligo
- T-cell destruction of melanocytes
- progressive disease
Oculocutaneous Albinism
- Defect in Tyrosinase (enzyme responsible for melanin synthesis)
- white-yellow/red hair with white-light skin
Neurofibramatosis
- Autosomal dominant mutation in neurofibromin
- cafe-au-lait macules, axilla freckling, neurofibromas (wart-like things)
Telogen Effluvium
- Increased loss of hair
- stress pushes hair into telogen phase, 3 months later, experiencing increased hair loss
- club hairs seen on examination
Alopecia Areata
- Immune system attacks the hair follicle
- increased and progressive hair loss is seen
- nail pits commonly seen
Tinea Versicolor
- fungal infection
- round hypo or hyperpigmented patches with overlying scale
- spaghetti and meatballs appearance on microscope
Pemphigus Vulgaris
- Autoimmune attack against desmogliens 1 and 3
- Intraepidermal blistering
- Positive Nikolsky’s sign
- Fragile blisters
Ichthyosis Vulgaris
- Autosomal dominant mutation in profilaggrin
- dry skin with “fish scales”
- hyperlinear palms
Marfan Syndrome
- Autosomal Dominant mutation in fibrillin
- Long limbs, spider fingers, aortic aneurysms, myopia
Ehlers-Danlos Syndrome
- Mutation in collagen production, assembly, synthesis
- hyperflexible joints, stretchy skin
Morphea
- Localized sclerosis, thickened collagen
- violaceous plaques, possible silver overlay
- limb, joint, neuro involvement
Systemic Sclerosis (CREST syndrome)
- Autoimmune disease causing widespread sclerosis
- Calcinosis, Reynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly, Telangiectasia
- Microstomia
Erythema Nodosum
- Reactive Panniculitis
- Tender red nodules on shins
- More common in young women
- Caused by Strep, oral contraceptives, malignancy, and IBD
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
Generalized Atrophic Benign Epidermolysis Bullosa (GABEB)
- Mutation of BP180
- shows non-serous blistering
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
Herlitz Junctional Epidermolysis Bullosa
- Mutated production of laminin 332
- Produces widespread blistering
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
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
Dermatitis Herpetiformis
- Caused by cross-reaction from anti-gluten antibodies
- Extremely itchy, red papulo-vesicles
- Common on extensor surfaces
Pyoderma gangrenosum
- Rapid, sterile ulceration of the skin
- Dusky border
- Associated with IBD, inflammatory arthritis
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
Cutaneous Sarcoidosis
- Brown/red papules or plagues
- non-caseating granulomas on histology
Dermatomyositis
- Heliotrope rash on eyelids
- Photosensitive dermatitis
- Gottron’s papules on knuckles
- Nailbed Capillary changes
- Associated with ovarian cancer
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
Cushing’s Cutaneous Symptoms
-Hyperpigmented Striae distensae
Addison’s Cutaneous Symptoms
- Hyperpigmented muscosa
- Calcification of auricular cartilage
- Nail pigmentation
- “bronzed” skin pigmentation
- loss of ambisexual hair in women
Grave’s Disease Cutaneous Symptoms
- Pretibial myxedema (flesh colored bumps) on shins
- Peau d’orange
- Mucin infiltration seen on histology?
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
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
