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Dermatology
Skin system
194
Medical
Graduate
01/03/2012

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Term
Hypodermis
Definition
superficial fascia layer deep to the skin. Not considered part of the skin, consists of loose connective tissue.
Term
Integument
Definition
The skin (epidermis and dermis) and its appendages (sweat glands, hair follicles, sebaceous glands, nails)
Term
Function of skin
Definition
1. Protection against injury, infection, and dessication
2. Regulation of body temp
3. Absorbs UV light
4. Contains sense receptors
Term
Glomus body/apparatus
Definition
Arterio-venus anastomosis which is a component of the dermis, involved in body temperature regulation (decrease blood flow for heat conservation, increase to let off heat). Surrounded by capsule of connective tissue, numerous in fingers and toes.
Term
Layers of Epidermis (bottom to top)
Definition
Stratum germinativum, stratum spinosum, stratum granulosum, stratum lucidum, stratum corneum/horny layer/cornified layer
Term
Keratinocytes
Definition
Produce keratin, ectodermal origin, predominant cell in the epidermis, mitotic activity of keratinocytes regenerates epidermis every 30 days
Term
melanocytes
Definition
specialized branching cell in basal layer (stratum germinativum)of epidermis, synthesizes pigment (melanin) in melanosomes, melanosomes contain tyrosinase for melanin synthesis, neural crest in origin
Term
Cytocrine secretion
Definition
Unique mechanism utilized by melanocytes to transport melanin from melanosomes to keratinocytes
Term
Malignant melanoma
Definition
cancer originating from melanocytes that divide, transform, and invade the dermis and lymph/circulatory systems, metastasizes
Term
Langerhans cells
Definition
Dendritic cells found in the stratum spinosum, have numerous long cytoplasmic processes, contain paddle-shaped Birbeck granules, function as antigen presenting cells
Term
Merkel cells
Definition
oval cells near areas of well-vascularized, richly innervated connective tissue; function as sensory mechanoreceptors
Term
Stratum basale (germinativum)
Definition
Single, deepest layer of columnar or cuboidal keratinocytes that are mitotically active and attach directly to the basal lamina by hemidesmosomes, layer also contains melanocytes and merkel cells
Term
Stratum spinosum
Definition
Layer a few keratinocytes thick, consisting of polyhedral ovoid nucleated keratinocytes (prickle cells), attached by desomsomes, keratin is bundles of intermediate filaments->tonofilaments->tonofibrils. With stratum basale = stratum malpighia
Term
Basal cell carcinoma
Definition
uncontrolled division of basal keratinocytes in the stratum basale
Term
Psoriasis
Definition
Increased proliferation of basal cells and incomplete keratinization of upper layer cells
Term
Squamous cell carcinoma
Definition
Results from uncontrolled division of keratinocytes of the stratum spinosum
Term
Stratum granulosum
Definition
Most superficial layer where nuclei can be seen, comprised of 3-5 layers of flattened keratinocytes. Keratinocytes contain keratohyalin granules, bundles of keratin filaments, membrane coating granules (producing a glycolipid that serves as a water barrier in the epidermis)
Term
Stratum lucidum
Definition
clear, homogenous layer of flattened dead cells; just superficial to the stratum granulosum. Only found in thick skin. Keratinocytes contain eleidin (transformation product of keratohyalin)
Term
Stratum corneum
Definition
superficial layer, consisting of a thick layer of flattened, 14-sided scale like dead keratinocytes. Desquamation occurs from this layer.
Term
Dermis
Definition
mesoderm derived layer of the skin underlying the epidermis. composed of DirCT (type I collagen and elastic fibers). Divided into dermal papillary layer and dermal reticular layer.
Term
Dermal papillary layer
Definition
Uneven, forms dermal papillae, which interdigitate with basal surface of the epidermis. Contains Meissners corpuscles, loosely arranged fibers and cells.
Term
Dermal reticular layer
Definition
Major portion of the dermis, composed of dense bundles of collagen fibers and elastic fibers. May contain Paccinian and Ruffini corpuscles, and krause's end-bulbs.
Term
Paccinian corpuscle
Definition
pressure receptor found in the dermal reticular layer
Term
Ruffini corpuscle
Definition
Encapsulated mechanoreceptors similar in structure to Golgi tendon organs, found in the dermal reticular layer.
Term
Krause's end-bulb
Definition
Cold and pressure receptors found in the deeper portions of the dermal reticular layer
Term
Epidermolysis bullosa
Definition
Group of hereditary diseases of the skin characterized by blister formation following minor trauma. Due to defects in the intermediate filaments and the anchoring fibrils (laminin 5)
Term
keloids
Definition
Swellings in the skin that result from increased collagen formation in hyperplastic scar tissue
Term
Eccrine sweat glands
Definition
coiled, simple tubular glands present in skin throughout the body (except lips and external genitalia). Contains dark, epithelial and clear cells.
Term
Dark cells
Definition
line the lumen of the eccrine sweat gand and contain many mucinoglycoprotein secretory glands.
Term
Clear cells
Definition
underlie dark cells in the eccrine sweat glands, are rich in mitochondria and glycogen. contain irregular canaliculi which extend tothe lumen of the gland. secrete a watery, electrolyte rich material.
Term
Myoepithelial cells
Definition
lie scattered in incomplete layers of eccrine sweat glands beneath the clear cells. Cells can contract and aid in expressing glandular secretions into the duct.
Term
Apocrine sweat glands
Definition
large, specialized sweat glands located in the axilla, areola, perianal region and wax glands of the auditory canal that function in response to hormonal influences. Apocrine is a misnomer because cytoplasm of the large coiled secretory cells does not become part of the secretion
Term
Sebaceous glands
Definition
Branched, holocrine, acinar glands with a short duct. Empty sebum into the neck of a hair follicle. Absent from palms and soles.
Term
Hair follicle
Definition
an invagination of the epidermis extending deep into the dermis that forms an elongated keratinized structure (hair)
Term
Hair bulb
Definition
lower expanded extremity of a hair that fits like a cap over the hair at the bottom of the hair follicle. Deeply indented by the dermal papilla
Term
Hair shaft
Definition
long, slender filament that is located in the center of the follicle and extends above the surface of the epidermis. Contains medulla, cortex and outer cuticle of hair.
Term
Internal root sheath
Definition
rigid cylindrical tube that molds the hair. Composed of Henle's layer, Huxley's layer, and cuticle.
Term
External root sheath
Definition
direct continuation of the strata basale and spinosum of the epidermis
Term
Glassy membrane
Definition
non-cellular layer and represents a thickening of the basement membrane, separating the hair follicle from the surrounding dermal sheath.
Term
Bulge area
Definition
contiguous part of the outer root sheath of the hair, provides insertion point for arrector pili muscles, have bulge cells (stem cells), marks permanent bottom of the the hair follicle
Term
Arrector pili muscle
Definition
smooth muscle attaching at an oblique angle to the dermal sheath surrounding a hair follicle. Inserts into the papillary layer of the dermis
Term
Structure of nails
Definition
Proximal end: cuticle/eponychium which overlies the lunula. Distal: underlain by the hyponychium. Grow via mitosis of cells in the nail root.
Term
Thick skin
Definition
prominent stratum corneum, well developed stratum granulosum, distinct stratum lucidum. found in palms and soles, no hair follicles, sebaceous glands, nor arrector pili muscles.
Term
Thin skin
Definition
Less prominent stratum corneum, little or no stratum granulosum, no stratum lucidum, found over most of the body surface.
Term
Natural rubber latex allergy
Definition
Type I allergy: IgE mediated immediate hpersensitivity due to natural proteins (anaphylaxis), also allergic to KABC, may occur if multiple surgeries during first year of life
Type IV: delayed hypersensitivity reaction due to chemicals added to latex (less often due to actual latex proteins)
Irritant contact dermatitis
Sx: hives, erythema and pruritis (suggestive)
Term
Eczema
Definition
Dermatitis, includes atopic dermatitis, allergic contact dermatitis, irritant contact dermatitis, seborrheic dermatitis
Term
Atopic triad
Definition
Atopic dermatitis, allergic rhinitis, asthmas
Term
Atopic dermatitis
Definition
Chronic inflammatory disease of the skin, frequently seen in pediatrics; characterized by itching, dry skin, erythema, edma, scaling, exoriations, oozing, lichenification
Term
Epidemiology of atopic dermatitis
Definition
10-20% prevalence in WEstern industrialized countries; multi-factorial etiology; hygeine hypothesis
Term
Signs and symptoms of atopic dermatitis
Definition
pruritis, dry scaly skin, crusted rash, small bumps that open and weep, redness and swelling, lichenification
Term
Infantile clinical phase of atopic dermatitis
Definition
Onset around 3months, under 6mos face and scalp affected, older age limb folds and hands affected. Chronic relapse and remission
Term
Infantile phase of atopic dermatitis
Definition
Onset around 3mos; face and scalp affected up to 6mos; older age hands and limb folds; course chronically relapsing and remitting
Term
Childhood phase of atopic dermatitis
Definition
2-12 years of age, papular areas in flexural regions are common; persistant scratching leads to lichenified plaques and excoriations
Term
Adult phase of atopic dermatitis
Definition
flexural lichenified eczema with facial involvement in periorbital regions, upper trunk, shoulders, scalp affected with chronic remission and exacerbation
Term
Ichthyosis vulgaris
Definition
seen in atopic dermatitis: keratinization with dry, rectangular scales, accentuated palm creases, extensor aspect of arms and legs affected
Term
X-linked ichthyosis
Definition
Type of atopic dermatitis: Darker and larger keratinization than ichthyosis vulgaris, seen exclusively in males and involves the flexor region. Improves with age
Term
Dennie-morgan folds
Definition
indicative of atopic diathesis, see more "wrinkles" under children's eyes than normal
Term
Hertoghe's sign
Definition
lateral part of eyebrow is alopecic due to chronic rubbing associated with atopic dermatitis
Term
Immunology of Atopic Dermatitis
Definition
Increased IgE production; increase in basophils and histamine release, decreased CD8, increased expression of CD23 on mononuclear cells; decreased number of INF-gamma secreting TH1-like cells; IL-4, 10 involved, TH2's active; antimicrobial peptides decreased
Term
Treatment of atopic dermatitis
Definition
1. avoid triggers
2. control dry skin
3. treat inflammation
4. May need to treat infections like staph, warts, eczema herpeticum
Term
Primary food allergens in atopic dermatitis patients
Definition
eggs, peanuts, milk, wheat, fish, soy, chicken
Term
Side effects of topical corticosteroids
Definition
Local: epidermal atrophy, steroid dependence, glaucoma/cataracts, increased susceptibility to infection
Systemic: suppression of hypothalamic-pituitary-adrenal axis, Cushing's syndrome, growth retardation
Term
Nummular eczema
Definition
scaly, erythematous coin-shaped plaque that is associated with trigger irritants. Sub-type of atopic dermatitis
Term
Asteotic eczema (eczema craquele)
Definition
winter itch - dry skin that progresses to fissures, inflamed, crusted dermatitis
Term
Irritant contact dermatitis
Definition
most common form of occupational skin disease, occuring when normal epidermal barrier is disrupted and secondary inflammation develops. Non-immunologic response occurs due to direct toxic effect of irritant on the skin
Term
Treatment of irritant contact dermatitis
Definition
1. define and remove exposure
2. moisturize
3. barrier creams
4. topical glucocorticoids
5. oral antihistamine
Term
Allergic contact dermatitis
Definition
allergen comes into contact with previously sensitized skin (unlike irritant dermatitis). Can cause type IV cell mediated hypersensitivity reaction (via Th1)
Term
Common causes of allergic contact dermatitis
Definition
poison ivy/oak/sumac, Ni/Au, balsam of peru, neomycin/bacitracin/polymixin, fragrance, formaldehyde
Term
Textile dermatitis
Definition
allergens secondary to dyes used to color textiles and resins used to make clothes less likely to wrinkle or shrink. Occurs in areas where clothes fit more tightly
Term
Patch test
Definition
used to determine allergic contact dermatitis culprits. not used to identify irritant contact dermatitis
Term
Epidemiology of psoriasis
Definition
2% of US population affected; 150,000 cases diagnosed/year. Equally common in males and females. Average age of onset is in late 20's; genetic predisposition
Term
Human leukocyte antigens associated with psoriasis
Definition
HLA-B13, -B17, and others. There is a greater than expected frequency of association between these class I antigens of the MHC locus on human cells.
Term
Psoriasis vulgaris
Definition
most common type of psoriasis characterized by circular plaques of erthema and scaling on elbows and knees. Also see onycholysis, nail pitting
Term
Guttate psoriasis
Definition
linked to strep throat infection. appears as eruptive erthematous and scaly guttate ("drops") often confined to trunk and proximal extremities.
Term
Psoriatic erythroderma
Definition
involves entire body, presents with generalized erythema and varying degrees of scale
Term
Non-cutaneous manifestations of psoriasis
Definition
ONLY psoriatic arthropathy, 5 patterns with arthritis mutilans being the most destructive. Psoriasis is also associated with heart attack and stroke.
Term
CD45RO
Definition
present on memory effector cells, CD4 and CD8
Term
Efalizumab
Definition
Humanized monoclonal mouse antibody which binds to cytoplasmic component (CD11a) of LFA-1 on the T-cell, preventing interaction of t-cell with ICAM-1 on APC, endothelial cells, and keratinocytes. Treats psoriasis by preventing the pathologic effects that lead to plaque formation
Term
Alefacept
Definition
Genetically engineered human fusion protein comprising the cytosolic portion of LFA-3 linked to Fc of IgG. binds to and blocks CD2 so T cells are not costimulated, while NK cells are stimulated and and kill the T-cell. Used to treat psoriasis.
Term
Inflixamab, adalimumab, etanercerpt
Definition
Monoclonal antibody (1 & 2) and fusion protein (3) that bind to soluable and membrane bound TNF-a and inhibit its action (stimulation of keratinocytes). Treats psoriasis.
Term
Ustekinumab
Definition
Monoclonal antibody that has specificity for the common p40 subunit of both IL-12 and 23. It binds and blocks the T-stimulating activity of the cytokines. Treats psoriasis
Term
Polyarteritis nodosa
Definition
Medium sized vessel necrotizing vasculitis that is associated with Hep B. Cutaneous PAN seen in 10% of cases, most commonly located on lower legs - painful purpuric ulcerative nodules with livedo reticularis (lacy, interlocking BV). Foot drop (mononeuritis multiplex) is a hallmark.
Term
Porphyria cutanea tarda
Definition
Linked to Hep C, or can be inherited or sporadic. 5P's: purple, pruritic, planar, polygonal, papules. Disorder of hepatic heme biosynthesis associated with uroporphyrinogen decarboxylase deficiency. Increased serum iron, ferriton and hepatocell. iron.
Term
Essential mixed cryoglobulinemia
Definition
Associated with hep B and C. Most common cutaneous manifestation is palpable purpura of the lower extremities. Also causes arthritis, arthralgia, peripheral neuropathy, GI disease, membranoproliferative glomerulonephritis.
Also associated with autoimmune CT diseases and lymphoproliferative disorders
Term
Terry's nails
Definition
Associated with hep C. White nails (leukonychia) on 2/3 of nail. Secondary to hypoalbuminemia
Term
Dermatitis herpetiformis
Definition
Extremely pruritic grouped or herpetiform papulovesicles with erythematous base on extensor surfaces, neck, scalp, buttocks. Associated with celiac disease, as well as common autoimmune disorders. Treat with dapsone. Caused by autoimmunity to tTransglutaminase in BMZ.
Term
Peutz-Jeghers Syndrome
Definition
Mucosal hyperpigmentation. Seen in persons with defective STK gene, multiple GI polyps, risk of pancreatic cancer.
Term
Gardner's syndrome
Definition
Congenital hypertrophy of retinal epithelium, epidermal cysts, desmoid tumors, osteomas. Cutaneous findings precede onset of polyposis. 100% transformation to GI adenocarcinoma by age 30 in 50% of patients
Term
Henoch-schonlein purpura
Definition
Palpable purpura, urticaria, necrotic ulcers. Caused by URI, medication, foods, lymphoma. Worse prognosis for adults. Treat with systemic steroids.
Term
Carcinoid syndrome
Definition
Most common site of tumor is appendix, ileum is most common site for producing carcinoid syndrome. Causes pellagra-like lesions, flushing, pruritis, chronic watery diarrhea, respiratory symptoms, arthritis.
Term
Erythema nodosum
Definition
erythematous plaques seen more often in crohn's disease than ulcerative colitis. granulomatous disease. treat with NSAIDS
Term
Pyoderma gangrenosum
Definition
earliest lesion is a pusutule with an inflammatory base. seen more often in ulcerative colitis than crohn's disease
Term
Hyperthyroidism - cutaneous findings
Definition
reversible alopecia, palmar erythema, swelling and clubbing of fingers, onycholysis
Term
Hypothyroidism - cutaneous manifestations
Definition
dry, brittle hair, alopecia, madarosis, generalized myxedema,
Term
Adrenal insufficiency - cutaneous manifestations
Definition
hyperpigmentation, palmar creases
Term
Cushing's syndrome/disease - cutaneous manifestations
Definition
altered subq fat distribution, skin atrophy, striae, cutaneous infections, appendageal effects (acne, hirsutism)
Term
MEN type I
Definition
Wermer's syndrome: cafe au lait macules
Term
MEN type II
Definition
Sipple's syndrome, lots of tumors, lichen amyloidosis, nostalgia paresthetic, mucosal neuromas - blubbery lips
Term
Acanthosis nigricans
Definition
Associated iwth DM, obesity, cushings, acromegaly, thyroid issues, medications, malignancy
Term
Diabetic dermopathy
Definition
brownish hyperpigmentation caused by extravasated RBC's depositing hemosiderin and subsequent scarring. Most common cutaneous finding in diabetes
Term
Necrobiosis lipoidica diabeticorum
Definition
Begins as well circumscribed erythematous plaque and becomes well demarcated reddish brown plaque with punched out ulcer and overlaying telangiectasia in anterior shin. Seen in >1% of diabetics, predominantly type I. Probably and inflammatory process due to high level of cutaneous perfusion.
Term
Diabetic bulla
Definition
Painless tense blisters, eventually crust over, heal without scarring. Rarest cutaneous complication.
Term
Diabetic thick skin
Definition
Nonpitting induration, begins on the face and neck and spreads. Can restrict mobility, occurs in poorly controlled DM II. Huntly's papules (skin pebbling), prayer sign
Term
Granuloma annulare
Definition
Generalized and perforating, chronic and relapsing (not actually a granuloma), associated with diabetes (more disseminated in dm)
Term
Recessive dystrophic epidermolysis bullosa
Definition
Autosomal recessive disorder where epidermal-dermal adherence is poor due to a defect in the gene to make type VII collagen, found in anchoring fibrils. Skin and mucosal membranes blister easily and debilitating scarring occurs, like mitten deformities
Term
Bullous pemphigoid
Definition
Potentially autoimmune disorder that develops in elderly people, characterized by pruritis (mild) or blistering (severe) of the sub-epidermal space. Defect in type XVII collagen/BP 2/BP 180 antigen.
Term
Components of hemidesmosomes
Definition
Plasma membrane: plectin, BP antigen 230
Lamina lucida interface: alpha-6 integrin, beta-4 integrin, collage XVII (BP 180 antigen)
Term
Components of lamina lucida
Definition
laminin 332 (laminin 5), laminin isoforms 1-10
Term
Components of lamina densa
Definition
type IV collagen, heparan sulfate proteoglycan, nidogen
Term
Components of sub-lamina densa fibrillar zone
Definition
type VII collagen, type I collagen, microfibrils
Term
Epidermolysis bullosa acquisita
Definition
Epidermolysis bullosa acquisita is a chronic subepidermal blistering disease associated with autoimmunity to type VII collagen within anchoring fibril structures that are located at the dermoepidermal junction.
Term
Linear IgA bullous disease
Definition
Autoimmune blistering disorder with antibodies to BPA2
Term
Pemphigus vulgaris
Definition
acquired autoimmune bullous disease characterized by IgG autoantibodies to desmoglein 3 (component of desmosomes), causing intra-epidermal blistering.
Term
Pemphigus foliaceus
Definition
acquired autoimmune bullous disease characterized by IgG autoantibodies to desmoglein 1 (component of desmosomes), causing intra-epidermal blistering.
Term
EPIDERMOLYSIS BULLOSA ACQUISITA (EBA)
Definition
IgG autoantibodies to type VII collagen causing a sub-epidermal blister.
Term
Dermatomyosis
Definition
symmetric muscle disease, autoimmune, high risk of malignancy with elevated CPK, manifests cutaneously as heliotrope, gottron sign, calcinosis cutis, mechanics hands, photosensitivity and periungual telangiectasia
Term
Cutaneous manifestations of renal disease
Definition
calciphylaxis: skin mottling that becomes necrotic ulcers, due to calcification of vasculature; nephrogenic systemic fibrosis: pruritis, pain, paresthesis, yellow scleral plaques, elevated plasma TGF-b1
Term
Hair growth cycle
Definition
1. Anagen phase: 3-5 years on scalp, most hairs in anagen phase, duration of this phase determines length of hair
2. Catagen phase: involution phase, lasts 2-3 weeks
3. Telogen phase: resting phase, lasts 3-5mos
Term
Canities
Definition
graying of hair. less melanin produced by melanocytes.
Term
Alopecia areata
Definition
autoimmune disease directed against the hair follicle. Can be: Areata (patchy), totalis (total scalp loss), universalis (total body loss). Nail pitting also apparent. Treat with steroids, anthralin
Term
Androgenic alopecia
Definition
Patterned hair loss, most common type of hair loss in men. Polygenic inheritance. Dihydrotesterone dependent transition from large caliber terminal hairs to vellous hairs. Treat men with finasteride. In women, hairloss in christmas tree pattern. Do not use finasteride for women.
Term
Telogen effluvium
Definition
Acute onset of diffuse hair shedding, usually related to systemic insult to body. Diagnose with hair pull test, look for clubbed hairs. No treatment necessary.
Term
Trichotillomania
Definition
impulse control disorder where patient pulls out hair. odd shaped patches, varying lengths of hair, increased catagen hairs, pigment cast. Treat with SSRIs
Term
Syphilitic alopecia
Definition
during secondary syphilis, moth-eaten appearance
Term
Kerion
Definition
inflammatory response to dermatophytes in hair. results in deep, tender, erythematous, boggy plaque with papules, pustules, crusting. can scar
Term
Koilonychia
Definition
Spoon nails, caused by iron deficiency anemia, hemochromatosis and other disorders
Term
Splinter hemorrhages
Definition
extravasated blood along parallel longitudinal vessels of nail bed. Most commonly caused by trauma, also due to endocarditis, lupus, scleroderma.
Term
Yellow nail syndrome
Definition
associated with pulmonary lymphedema, pleural effusions, chronic pulmonary or sinus infections
Term
Beau's lines
Definition
transverse furrow in nail plate caused by temporary arrest of function of nail matrix, caused by local and systemic traumatic factors.
Term
Muehrckes lines
Definition
paired, transverse, narrow, white bands parallel to the lunula. associated with hypoalbunemia
Term
Mee's lines
Definition
single/multiple transverse white bands caused by poisoning (arsenic)
Term
Lindsay's nails
Definition
half and half nails, proximal nail is white, seen in hemodialysis and renal transplant patients
Term
Blue nails
Definition
caused by medication, argyria, wilson's disease
Term
Melanonychia striata
Definition
longitudinal band of brown or black color, may be indicative of pigmented tumor of the nail, stronger indication in light skinned patient with hutchinson's sign (involvement of lateral or proximal nail fold)
Term
HED syndromes
Definition
defect in EDA gene, causing hypohidrotic disorders - reduced sweating, hypotrichosis, dental hypoplasia, dystrophic nails
Term
Trichofolliculomas
Definition
hair tumors caused by overactive WNT pathway
Term
hereditary hypotrichosis simplex
Definition
androgenic alopecia caused by mutation in APCCD1 gene that creates a novel WNT inhibitor
Term
Regulatory pathways for regulation of hair growth
Definition
WNT (promotes), BMP (inhibits), FGF (?)
Term
Hair germ
Definition
fuels hair follicle regeneration
Term
Dermal papilla
Definition
induces hair growth, induced by SOX2 expression
Term
Albinism
Definition
hypo/de pigmentary disorder. autosomal recessive resulting in deficiency of melanin. Type I - tyrosinase negative (most severe form), type II - p gene negative, type III - tyrosinase related protein 1
Term
Xeroderma pigmentosum
Definition
autosomal recessive disorder in gene XP-A thru G defects. Defective DNA excision repair repair, acute sun sensitivity, mottling and freckling, narrowing of nares and mouth, 1000x increase in skin cancer, progressive eye problems, possible neurological involvement
Term
Neurofibromatosis I
Definition
neurofibromin autosomal dominant disorder, hyperpigmented cafe au lait macules, crowe's sign (axial and inguinal freckling), bag of worms malignancy, lisch nodules, osseos changes
Term
Neurofibromatosis II
Definition
Schwannin or Merlin gene defect, autosomal dominant. Bilateral acoustic neuromas, with no cafe au lait macules or freckling
Term
Tuberosis sclerosis
Definition
TSC-1 or 2 gene defect, autosomal dominant mutation. Clincal triad: adenoma sebaceum, mental deficits, epilepsy, shagreen patch, koenan's tumors, hypomelanotic macules, affects major body systems.
Term
Marfan's syndrome
Definition
autosomal dominant disorder of fibrillin, tall disproportioned, ascending aortic aneurysm, mitral valve prolapse, myopia, retinal detachment
Term
Ehlers danlos syndrome
Definition
mutations affecting collage function in skin, joints, vasculature with excessive stretching and skin fragility. Atrophic scarring, molluscoid pseudotumors, vasc fragility and rupture.
Term
Fabry disease
Definition
x-linked recessive disorder with deficiency in alpha-galactosidase A, anhidrosis, accumulation of globotriacycleramide, angiokeratomas, ESRD by 30yrs (maltese crosses)
Term
Junctional nevus
Definition
flat, proliferation of slightly altered melanocytes within the epidermis
Term
Compound nevus
Definition
somewhat raised, melanocytes migrate tot he dermis
Term
Intradermal nevus
Definition
loss of nevus cells in the epidermis
Term
Risk factors for melanoma
Definition
UV exposure, personal history, family history, dysplastic nevi, immune suppression, age
Term
Superficial spreading melanoma
Definition
Arises intermittently on sun damaged skin
Term
Lentigo maligna melanoma
Definition
Arise on chronically sun damaged skin
Term
Nodular melanoma
Definition
sun damage independent, has no radial growth phase, poor prognosis
Term
Acral lentiginous melanoma
Definition
most common melanoma for people of color
Term
Familial melanoma syndrome
Definition
Caused by defect in CDKN2A gene
Term
UVB wavelength
Definition
290-320nm, reaches dermis
Term
UVA damage to DNA
Definition
creates free radicals in dermis, causes DNA strand breaks and 8-hyroxyguanosine.
Term
UVB damage to DNA
Definition
damages DNA directly, creating CPD's which make bulges in DNA and prevent normal transcription. If further damaged by UVB before repair, creates 6,4 photoproduct with covalent bond - more mutagenic, less common.
Term
DNA repair mechansim failures
Definition
C6T and CC6TT. If defective gene, get Xeroderma pigmentosum
Term
Genes associated with skin cancer (when damaged)
Definition
p53, PTCH, ras, BRAF, CDKN2A
Term
Melasma
Definition
dark tanning on face, "mask of pregnancy"
Term
Eumelanin
Definition
the main epidermal produced pigment which imparts a brown to black color to the skin. It looks blue when deep in the dermis.
Term
Development of a melanosome
Definition
TODA stages:
1. spherical membrane containing tyrosinase
2. Oval with filamental periodicity
3. Like 2, with some melanin
4. Electron opaque from melanin
Term
Tyrosinase
Definition
Copper-containing ezyme in TODA I melanosomes, kept inactivated by SH compounds, activated by UV light
Term
Causes of acne
Definition
excessive sebum, propionibacterium acnes, genetics, retention hyperkeratosis of the pilosebaceous epithelial lining, inappropriate cytokine release, androgen excess
Term
Treatments for acne
Definition
Reduce/eliminate:
1. comedogenesis obstruction
2. excessive sebum
3. p. acnes
4. inflammation
Term
Accutane
Definition
13-cis-retinoic acid; decreases sebum, vitamin A derivative, resets epithelium to be thinner. Can cause xerosis, chelitis, peeling, hyperlipidemia, category X teratogen
Term
Actinic keratosis
Definition
in situ epidermal dysplasia from chronic sun exposure, precursor to squamous cell carcinoma. Treat with liquid nitrogen, fluorouracil, chemical peel
Term
Keratoacanthoma
Definition
rapidly growing, dome shaped crateriform papule/nodule. well-differenctiated squamous cell carcinoma
Term
Cutaneous horn
Definition
skin-colred horn on the face or scalp. ormally benign, but may overlie a squamous or basal cell carcinoma. treat with surgery/excision
Term
Bowen's disease
Definition
erythematous, slightly scaly patch that is sharply defined. Intraepidermal SCC, can be more aggressive than SCC arising from actinic keratosis
Term
Basal cell carcinoma
Definition
most common cancer in the US, associated with utation in CDKN2A or point mutation in p53. many types of BCCs. Run chronic course, not many metastases, usually obstruct vital structures
Term
Gorlin's syndrome
Definition
basal cell nevus syndrome, characterized by 2 or more basal cell carcinomas before the age of 20. Other deformaties like odontogenic keratocysts, splayed ribs, etc
Term
Paget's disease
Definition
unilateral, sharply marginated erythematous crusted patch or plaque on the nipple. Associated with invasive or in-situ ductal adenocarcinoma
Term
Extramammary paget's disease
Definition
affects sites with apocrine glands, non-healing patch that is often misdiagnosed. Primary arises intraepidermally, other types: with underlying apocrine carcinoma, with underlying GI malignancy, with GU cancer
Term
Dermatofibrosarcoma protuberans
Definition
locally aggressive tumor with high recurrence rate, characterized by a bulky, proturberant mass. Associated with 17-22 translocation. Slowly progressive but has a low metastatic potential
Term
tinea versicolor
Definition
superficial mycosis in the stratum corneum that appear as white macules, caused by M. furfur
Term
Tinea negra
Definition
Superficial mycosis in the stratum corneum only characterized by black macules caused by Hortaea werneckii
Term
White piedra
Definition
superficial mycosis characterized by white hair nodules caused by Trichosporon beigelii
Term
black piedra
Definition
superficial mycosis characterized by black hair nodules caused by Piedraia hortae
Term
Dermatophytoses
Definition
epidermal/skin/nail infections by fungi. Most common cause of tinea is Trichophyton rubrum, can also be caused by Microsporum and Epidermophyton.
Term
Intertrigo
Definition
cutaneous candida syndromes that affects skin folds. Begins as vesicopustules that rupture into maceration and fissuring. Scalloped border with white rim of necrotic epidermis, erythematous base.
Term
Impetigo
Definition
skin infection from group A strep characterized by vesicopustular lesion that crusts a golden color. Can lead to post-strep glomerulonephritis.
Term
Bullous impetigo
Definition
Skin infection caused by S. aureus, which release exfoliative toxins that cause separation of cells in the epidermis. Seen on newborns and kids. Crust is light brown in color.
Term
Erysipelas
Definition
Superficial cellulitis, peau d'orange skin with sharp raised border. Caused by group A strep
Term
Folliculitis
Definition
Small erythematous papules with central pustule infecting hair follicles. Caused by staph aureus, p. aeruginosa (hot tubs), candida.
Term
Cellulitis
Definition
Deeper infection than cellulitis, involving subcutaneous tissue. Caused by group A strep or staph aureus
Term
Abscess
Definition
Caused by staph aureus, purulent infection, furuncles and carbuncles. Seen in IV drug users, may see fecal or mouth bacteria in abscess.
Term
Type 2 necrotizing soft tissue infection
Definition
Caused by group A strep, rapidly progressing inflammation and necrosis of skin, subq fat and fascia, and later muscle.
Term
Necrotizing cellulitis by vibrio vulnificus
Definition
Type 1 nec fasc associated with consumption of raw oysters.
Term
Bacteria from cat/dog bites
Definition
Pasteurella multocida (cat), pasteurella canis
Term
Bacteria from human bite
Definition
Eikenella corrodens
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