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Presentation
+ Muscular dystrophy
Junctional EB
JEB (non-Herlitz)
Milder form
Mucosal Airway
+ Pyloric atresia
Most severeform
Systemic infection Airway obstruction High risk for sepsis More severe
Dystrophic EB
T7 collagen
Scarring, Contracture, Deformity Squamous cell carcinoma (80%) Heals with scarring
Dominant (DDEB) = mutant Dominant negative effect Bullous Congenital IchthyosiformErythroderma (BCIE) Keratin 1 Keratin 2 Keratin 10 aka Epidermolytic Hyperkeratosis Blister Erythema Often inflamed (Extensive scaling) Appearance Vesicles / Bullae Tense Pruritus Urticarial base Can cross placenta into newborn! Vesicles / Bullae Tense Pruritus !!! Generalized Birth or early childhood
(Late childhood to adulthood) Distribution Extremities Axillae Groin Epidemiology Age > 60 Rarely in children Treatment Histology
Mechanism
Pemphigoidgestationis
BPAg2
Trunk
Pregnancy
Cicatricialpemphigoid
Conjunctiva Oral mucosa Skin Heterogeneous Associated systemic diseases 1. IBS 2. RA 3. Multiple myeloma chronic bullous of childhood
Scarring
EpidermolysisBullosaAcquisita (EBA)
Scarring Millia
BPAg2
Vesicle / Bullae
Desmoglein 3
Lamellar Ichthyosis (NCIE) X-linked recessive Ichythosis BZD Summary Protein target BPAg2 6 4 integrin Laminin 332 Type VII collagen Epidermis
Generalized
Stratum corneum massively thickened (hyperkeratosis) Stratum corneum massively thickened (hyperkeratosis)
Structural target Hemidesosome-anchoring filament complex Hemidesosome-anchoring filament complex Lamina lucida-lamina densa interface Anchoring fibrils
Genetic Disease Junctional EB,non-Herlitz Junctional EB with pyloric atresia Junctional EB, Herlitz Dystrophic EB
Mechanism Less flexible stratum corneum 1. Decrease lipids 2. Uncoordinated desquamation 3. Dehydration Prone to microfissure 1. Histamine (inflammatory) 2. Invasion
Presentation Common (most by 60) During low ambient humidity Factors 1. Arid environment 2. Wetting-drying 3. Detergent 4. Genetic 5. CKD, HypoT4, Malnutrition 6. Medications (statins)
Treatment / Prognosis Minimize exposure Emollient Keratolytics (urea or ammonium) Topical steroids Antihistamines
Histology
Dermis Protein Ehler-Danlos Syndrome (EDS) T5 Collagen T1 Collagen Mechanism (Type 1 and 2 EDS) Altered collagen fiber size & organization Skin Hyper-extensible Hypermobile joints Distribution Presentation Abnormal healing after trauma Gorlin sign (touch nose with tongue) Cigarette paper scars Vascular (aneurysms or rupture) Uterine rupture in pregnancy Swelling Papularurticaria Laxity Acral Bladder diverticula Hernias Corpulmonale Subsequent death can occur Corkscrew hairs Perifollicular hemorrhage Bleeding gums Loss of strength > collagen Loss of elasticity > elastin Summary Loss of strength > collagen
T3 Collagen
Cutis Laxa
Elastin Acquired
In some families (AD) Acral localized acquired Generalized elastolysis Fragmentation &lost dermal elastic fibers
Scurvy
Vitamin C
Perifollicular hemorrhage b/c 1. Higher type 3 collagen in papillary dermis 2. More dependent on hydroxylation 3. Weaker in the absent of vitamin C Progressive fibrosis and vascular destruction Anti-fibrillin antibodies (Choctaw natives) Overstimulated fibroblast (cytokine, TGF, hypoxia) Microchimerism with fetal cells
Scleroderma
Unknown
Skin Appendages Sebaceous Acne Vulgaris Type Comedomal Mechanism Comedo (keratin plug in hair follicle) Block sebaceous glands secretion (antimicrobial) Inflammatory papule (build-up) Bacterial growth in sebum Rupture and cyst formation Skin Black head (open) White head (closed) Erythema Antibacterial&Anti-inflammatory Hormonal Distribution Presentation Comedolytics (thin epitheliumearly shed) Antisebocyte (shrink secretion) Inflammatory Treatment Tretinoiin (Retin-A) Benzoyl Peroxide Isotretinoin (Accutane) Benzoyl Peroxide Clindamycin Doxycycline (sub-dose) Spironolactone (offlabel) OCP (estrogen) Treatment
Cystic
Type Pregnancy
Mechanism Increased hair thickness during pregnancy All hair enters cycle at same time Hair loss due to hair growth (shedding) 5-DHT (5 -reductase converts from testosterone) Paradoxical increase in axilla, pubis, chest, face Unknown cause of irritation Autoimmune process (attack melanocytes)
Distribution
Androgenetic Alopecia
Alopecia
Finasteride (Propecia) -5AR inhibitor Areata (area) Totalis (scalp) Universalis (all) Distribution Axilla Anogenital Cerumen Breast Presentation Remove irritant Hair grows back usually
Alopecia Areata
Alopecia (selective)
Apocrine HidradenitisSuppurativa
Mechanism Plug of unknown origin within hair follicle 1. Blocks apocrine gland secretion 2. Aprocrine cell swelling 3. Hair loss 4. Increased size and involve neighbor follicles 5. Form continuous tract of pus Mechanism Forms isotonic (not hypotonic) excretion Overstimulation of SNS
Type CFTR
Skin
Distribution
Treatment
Excess sweating
Nail Onychomycosis
Type
Skin Detachment
Paronychia
Skin Immune System Immune Allergic Contact Dermatitis (ACD) Stimulus Allergen (mild chemical) Hapten (binds proteins to make antigenic) Chemical Mechanism Delayed-Type Hypersensitivity 1. Histamine 2. Th1 predominance 3. Sensitization(LC and CLA-T) 4. Elicitation (Memory T) 5. Proliferate in situ (re-exposure) Direct cellular injury No immunologic memory Appearance Vesicles Papule/Plaques Erythema Edema Pruritus Distribution Geometric! Linear (ivy) Nickel jewel Generalized Presentation Often no reaction at first exposure Delayed reaction Severe: general cutaneous reaction Treatment / Prognosis Histology Spongiolysis (Epidermis) = fluid accumulation
Local
Spongiolysis (Epidermis)
Th2 predominant (IgE, eosinophils) Staphylococcusaureus 1. Superantigens stimulate T cells 2. Toxic shock toxin (TSST-1) 3. Cytokine overproduction Loss of barrier defense
Symmetric Skin folds (antecubital) (popliteal) Flexures Face Elbow Knee Scalp Trunk
Atopic Triad (associated with) 1. Asthma 2. Allergic rhinitis Common onset in childhood Higher risk of cutaneous infection (HSV, molluscumcontagiosum) 2% world population Nail involvement common Arthritis in 5% Other:guttate/pustular/erythroderma Constitutionally ill Leonine facies Immigrants to U.S. Armadillos in the South Often indolent Early CD8+ antitumor response CD3, CD4, CLA, CD45RO+,CD8Th2: IL-4, IL-5, IL-10
Spongiolysis (Epidermis)
Psoriasis
Leprosy (Hansens)
Resistance
Cutaneous T-Cell Lymphoma (CTCL) Graft vs. Host (GVHD) Drug Eruption
Mycosis fungiodes (classic) Sezary syndrome (erythrodermic) De novo (tumor only stage)
Patch-Plaque-Tumor Red Scale Pruritus Macule / Papule Blistering Erythema Papular Erythema Purpura White patches Irregular shape Wheal Erythema Edema Pruritus
Progression Diffuse
Transplant
Cyclosporine
Many
Erythema multiforme (EM) Toxic epidermal necrolysis Cutaneous vasculitis Melanocytes destroyed
Vitiligo
Autoimmune
Urticaria (hives)
Mast cell
Infections Fungal Tineacorporis Organism Dermatophyte Mechanism Keratinases for invasion Manninsdecrease desquamation Appearance Pink-Red-brown Scaly Annular Demarcated Distribution Pedis (feet) Cruris (groin) Scalp Face Presentation Complex toe-web space infection Treatment / Prognosis Topical or systemic antifungal Histology Hyphae on KOH
Tineaversicolor
Malassezia furfur
Hypo/Hyperpigment Papules / Plaques White scale (scrape) Erythema Plaque Beefy red Satellite pustules Mechanism Appearance Red Hot Tender Un-raised Poor demarcation Red Plaque Raised-Indurated Warmth Edema Demarcated Altered cool dry surface Red-Brown Plaque Face Leg Distribution
Often in the summer Can be hypopigmented afterwards (substance that bleaches melanin)
SpaghettiMeatball on KOH
Cutaneous Candidiasis
Candida spp.
Bacterial Cellulitis
Erysipelas
Superficial dermis
Erythrasma
Corynebacterium
Groin
TrichomycosisAxillaris
Underarm hair MicrococcusKyptococcus Altered cool dry surface +sweat: methane thiol (CH3 SH) Unimpressive host response Direct toxicity Interfere with blood flow Tissue breakdown Toxin cleaves desmoglian 1 Infection at distant site Toxin cleaves desmoglian-1 Exfoliative dermatitis Pits Sulci / Erosions Sole (foot) Rule out tinea with KOH prep Odor Topical antibiotics (clindamycin)
Pitted Keratolysis
Necrotizing Fasciitis
Rapid progression and spread Systemic symptoms Febrile Shock Also produces staph scalded skin Fever Usually infants and young childrenRarely adults with renal disease
Subcutaneous tissue
Staph.aureus Staph.aureus
Not scarring
Abscess
MRSA
Nodules
Organism HSV-1/-2
Mechanism
Distribution Grouped
Presentation Pain
Histology Acantholysis
Defects in antimicrobial defense due to eczema allow rapid spread of herpes Drug (Common) HSV M. pneumonia Herpes Zoster Poxvirus (MCV) Papules Umbilicated Erythema Dermatome Genitals Trunk Common in children Destructive therapies Inclusion bodies (gram-stain) Acanthosis akaStevens-Johnson Syndrome
Erythema multiforme
Shingles Molluscum
Warts
Acanthosis
Pigmentation Migration Dermal Melanocytosis Mutation (Mongolian spot) Mechanism Arrested melanocyte migration Stuck in dermis AD: autosomal dominant Stem cell factor receptor Critical in melanocyte migration Melanoblast proliferation Melanoblast migration Appearance Blue/Black Hyperpigmentation Distribution Lumbosacral Presentation At birth African and Native American (90%) Can be confused with bruising White forelock of hair (85-90%) At birth Treatment / Prognosis Lighten and disappear with age Histology
Piebaldism
C-Kit gene
White Depigmentation
Skin Hair
Waardenburg Syndrome
Depigmentation
Deaf Heterochromic eyes White forelock Associated with Hirschprung disease Distribution Skin Eyes Hair Presentation Nystagmus Photophobia Diminished visual acuity Increased risk of skin cancer Mental deficiency Epileptic seizures Presentation Immunodeficiency Tyrosine rich diet Low phenylalanine diet Treatment / Prognosis Histology Treatment / Prognosis Histology
Mechanism
Appearance No Pigment
AR: autosomal recessive Lack or reduction of pigment AR: autosomal recessive Lower tyrosine Lower melanin Mechanism AR: autosomal recessive Impaired melanosome transport Fumbled transfer Engulfed by melanophages Mechanism Decreased melanin production Decreased glucocorticoids Adrenal insufficiency Pituitary overcompensation Melanin synthesis increased By estrogen and progesterone Mechanism Autoimmune Destruction of melanocytes
Reduced Pigment Minimal Pigment Pale skin Blue eyes Blond-white hair Appearance Hypopigmentation Silvery hair Hyperpigmentation
Phenylalanine hydroxylase Mutation Myosin-Va gene RAB27A Inflammation (secondary) Mutation MSH ACTH MSH ACTH Pregnancy
Post-Inflammatory
(e.g. acne)
Distribution
Treatment / Prognosis
Histology
Diffuse
Melasma
Destruction Vitiligo
Mutation
Distribution Patchy
Histology
External Argyria
Mutation Silver
Distribution
Treatment / Prognosis
Minocycline
Antibiotic
Tetracycline antibiotic
Blue-Black
Scars
Disease Sunburn
Mutation UVB
Mechanism Weak epidermal attachment Vessel dilationand permeability 1. Cytokines (IL-1, TNF ) 2. Histamine, NO, Kinins 3. Eicosanoids Direct effect on vessels Immediate (Meirowsky) 1. Photo-oxidation 2. Redistribution of melanin Delayed (Main) 1. Melanosome number 2. Melanin synthesis (new) 3. MSH Alteration of elastin Reduced collagen Increased T3:T1 collagen Essential for calcium metabolism Mechanism Accumulate and diffuse in dermis Photoactivated by UV AR: autosomal recessive DNA nuclear excision repair
Distribution
Presentation
Hyperpigmentation
UVB
Thickening
48-72 hours
Photo-aging
UVA
Tough-Leathery Wrinkles Pigmentation Risk in elderly, darker, altitude Associated colon, prostate, breast CA Presentation
Appearance Blisters
Distribution Subepidermal
Treatment / Prognosis
Histology
XerodermaPigmentosa
UV
Skin cancer
Exogenous
UV absorption
Sulfonamide Thiazide Lime Lupus CTD Rosacea HSV Polymorphous light eruptions Solar urticaria Vitiligo Albinism Skin Type: I always burns, never tans VI never burns, tans deeply
Photo-aggravated
Idiopathic
Pigmentation
Skin Cancers Cancer Basal Cell Carcinoma Precursor lesion None Precursor Cell Progenitor cells 1. Hair follicle 2. Interfollicularepithelium Appearance Pearly papule Telangiectasia Ulcerated-Crusted Pigmented Pink, scaly White, ill-defined Distribution (classic) Presentation Most common (80%) 1. Slight M > F 2. Median age 68 3. Risk in organ transplant (decreased immunity andHPV) Locally destructive Very low metastasis risk Mortality rare Palmar / plantar pits Skeletal abnormalities Calcification of falxcerebri Precursor Cancer Second common (20%) 1. Primarily in Caucasians 2. Risk in organ transplant (decreased immunity and HPV) Low risk of metastasis (5-30%) Malignant Melanoma Multiple (de novo, nevi) CDKN2A(INK4A) -p16 -p14ARF Melanocyte A: asymmetry B: border irregularity C: color varied D: diameter large E: evolving Amelanotic melanoma Risk of metastasis Survival 99% if early diagnosis Survival 15% if metastasis Third common (3.5%) 1. Most common cancer in 25-29 2. Risk in fair skin, red hair, light 3. Risk if many nevi 4. Risk in family history 5. Heavy UV exposure Excision GDC-0449 (in trial) PTCH (tumor suppressor) Treatment / Prognosis Excision Curettage Radiation Histology
PTCH
BCCs
Actinic keratosis
Keratinocyte