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Title: Kind of lesions in dermatology 1- Primary Skin Lesions 2-Secondary Skin Lesions


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Skin Lesions
3
Kind of lesions in dermatology1- Primary Skin
Lesions2-Secondary Skin Lesions3- Special
Skin lesions
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PRIMARY LESIONS
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PRIMARY
  • MACULE
  • PAPULE
  • NODULE
  • VESICLE
  • BULLA
  • PUSTULE
  • WHEAL

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Macule and Patch
  • Description
  • Circumscribed
  • Flat
  • Discoloration
  • Smaller than 0.5 cm-macule
  • Larger that 0.5 cm- patch
  • May be brown, blue, red or hypogigmented

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Macule and Patch
  • Examples of Brown
  • Café au lait spot
  • Freckle
  • Examples of Blue
  • Ink (tattoo)
  • Mongolian spot
  • Red
  • Rheumatic fever
  • Drug eruptions
  • Viral exanthems
  • Examples of Hypopigmented
  • Vitiligo
  • Tuberous sclerosis
  • Tinea versicolor

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Macule and Patch
TINEA VERSICOLOR
CAFÉ AU LAIT PATCH
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Papule and Plaque
  • Papule - Elevated, solid lesion lt0.5 cm in
    diameter
  • Ex scabies/insect bites
  • Plaque - Elevated, solidconfluence of
    papulegt0.5 cm in diameter that lacks a deep
    component
  • Ex Psoriasis

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Papule
  • Description
  • Lesion up to 0.5 cm in diameter
  • Color varies flesh, yellow , white, brown, red,
    blue or violet
  • May become confluent
  • May form plaques
  • Examples of flesh, yellow, white papules
  • Flat warts
  • Skin tages
  • Closed comedo (acne)
  • Molluscum contagiosum

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Papules
  • Brown
  • Nevi
  • Warts
  • Melanoma
  • Red
  • Acne
  • Urticaria
  • Folliculitis
  • Insect bites
  • Blue or Violaceous examples
  • Blue nevus
  • Kaposis sarcoma
  • Melanoma
  • Venous lake

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  • Papule
  • Plaque

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PSORIASIS PLAQUE
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PSORIASIS NAIL PITTING
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Nodule
  • Elevated, solid lesiongt0.5 cm in diameter, a
    larger-deeper papule
  • Lipoma
  • Rheumatoid nudule
  • erythema nodosum

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Nodule
  • Description
  • Circumscribed
  • Often round
  • Solid lesion
  • More that 0.5 cm in diameter
  • Larger nodule is a tumor
  • Examples of a nodule
  • Warts
  • Lipoma
  • Neurofibromatosis
  • Erythema nodosum
  • Furnuncle
  • Hemangioma
  • Squamous cell and metastitic CA, Melanoma

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LIPOMA BENIGN TUMOR
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Vesicle
  • Vesicle - elevated, circumscribed, superficial
    fluid filled blister less than 5 mm in diameter
  • Herpes simplex
  • Herpes zoster
  • Contact dermatitis

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Vesicle
  • Description
  • Circumscribed collection of free fluid
  • Up to 0.5 cm in diameter
  • Examples of vesicle
  • All the herpes
  • Eczema
  • Impetigo

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Bulla
  • Description of bulla
  • Circumscribed collection of free fluid
  • More that 0.5 cm in diameter
  • Examples of bulla
  • Fixed drug eruption
  • Lupus erythematous
  • Blister

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Vesicles / Bulla
  • Bulla - Localized fluid collectiongt0.5 cm in
    diameter, a large vesicle
  • Pemphigus vulgaris
  • Bullous pemphigoid
  • Bullous impetigo

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Pustule
  • Papule that contains purulent /pus material
  • Folliculitis
  • Impetigo
  • Acne
  • Pustular psoriasis

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CYSTIC ACNE
ACNE VULGARIS
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Pustule
  • Description
  • Circumscribed collection of leukocytes
  • Free fluid
  • Varies in size
  • Examples of a pustule
  • Impetigo
  • Herpes simplex, zoster, varicella
  • Acne
  • Keratosis pilaris

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Wheal (Hive)
  • elevated, irregular-shaped area of cutaneous
    oedema solid, transient, changing, variable
    diameter red, pale pink or white in colour
  • Urticaria
  • Urticaria pigmentosa

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Wheal (hive)
  • Description
  • Firm
  • Edematous
  • Papule or plaque
  • Are transient
  • Result from infiltration of fluid into the dermis
  • Examples
  • Hives
  • Uticaria
  • Dermographism

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SECONDARY LESIONS
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SECONDARY
  • SCALES
  • FISSURE
  • SCAR
  • EROSIONS
  • ULCERS
  • ATROPHY
  • LICHENIFICATION
  • CRUSTS

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Crust
  • Is a collection of dried serum and cellular
    debris- a scab
  • Examples
  • Acute eczematious inflammation
  • Atopic on the face
  • Impetigo- golden or honey colored
  • Tinea capitis

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Crust
  • A collection of cellular debris ,dried serum,and
    blood
  • A scab antecedent primary lesion is usually a
    vesicle,bulla or pustule
  • Impetigo
  • Capitis Tinea

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Scale
  • Thick stratum corneum that results from
    hyperproliferation or increased cohesion of
    keratinocytes
  • Scarlet fever

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Scar
  • A collection of new connective tissue, may be
    hypertrophic or atroohic scar implies
    dermoepidermal damage
  • Burn
  • Acne

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Scar
  • An abnormal formation of connective tissue,
    implying dermal damage, after injury
  • Are initially thick and pink, but become white
    and atropic
  • Examples
  • Post surg.
  • Burns
  • Keloid
  • Post any herpes

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Atrophy
  • Thinning of the epidermis, dermis or fat that
    cause depression in the skin surface
  • Morphea

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Atrophy
  • A depression in the skin resulting from thinning
    of the epidermis or dermis
  • Examples
  • Aging
  • Lupus
  • Striae

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Fissure
  • Vertical loss of epidermis and dermis with
    sharply defined walls, crack in skin
  • Perleche
  • Eczema

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Fissure
  • A linear loss of epidermis and dermis with
    sharply defined nearly vertical walls
  • Examples
  • Chapping hands and feet
  • Eczema on the finger tip

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Erosion
  • A partial focal loss of epidermis, heals without
    scarring
  • Perleche

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Ulcer
  • A full-thickness, focal loss of dermis, heals
    with scarring
  • Bed sore
  • Syphilis

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Ulcer
  • A focal loss of epidermis and dermis, and heal
    with scarring
  • Examples
  • Decubitus
  • Ischemic
  • Stasis ulcers
  • Neoplasms

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Pressure Ulcers
  • are categorized into four stages depending on the
    level of tissue involvement, or depth of the sore

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SPECIAL SKIN LESIONS
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Excoriation
  • Linear erosion included by scratching
  • Scabies
  • Atopic Dermatitis
  • Prurigo

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Excoriation
  • An erosion caused by scratching
  • Are often linear
  • Examples
  • Scabies
  • Atopic dermatitis
  • Dry skin

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Cyst
  • Nodule that contains fluid semisolidmaterial
  • Acne
  • Pilar cyst

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Cyst
  • A circumscribed lesion with a wall and a lumen,
    it may contain fluid or solid matter.
  • Examples
  • Epidermal, pilar

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Lichenification
  • Focal area of thickened skin produced by chronic
    scratching or rubbing
  • Atophic Dermatitis

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Lichenification
  • An area of thickened epidermis induced by
    scratching
  • Skin lines are accentuated so it looks like a
    washboard
  • Examples
  • Atopic dermatitis, chronic eczematous dermatitis

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LICHENIFICATION
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Petechiae
  • A small purplish spot on a body surface caused by
    hemorrhage lt0.5 cm
  • Vasculitis
  • DIC

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Petechiae
  • A circumscribed deposit of blood
  • Less than 0.5 cm in diameter
  • Does not blanch!!
  • Examples
  • ITP, meningococcemia, vasculitis, leukemia, other
    BAD stuff or could just be a minor injury site

54
Purpura
  • A small purplish spot
  • on a body surface
  • caused by hemorrhage gt0.5 cm
  • Platelet Disorder

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Purpura
  • A circumscribed deposit of blood
  • Greater that 0.5 cm in diameter
  • Does not blanch!!
  • Is usually raised
  • Examples
  • Rocky mt spotted fever, HSP, platelet
    abnormalities, advanced BAD stuff

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Differences in skin
  • Pediatric differences thinner skin
  • Newborn's skin thinner, more easily hurt by
    endotoxins and infection, shearing and tearing
    forces
  • Child's body absorbs more of topical products
  • Harder to regulate body temperature
  • Factors in skin condition
  • Age
  • Hydration and nutrition
  • Soap, laundry detergents, and topical products
  • Medications
  • Infectious processes (viral, bacterial, fungal)
  • Mechanical forces (tearing, friction, shearing)
    vascular damage
  • Tape and adhesive products
  • Allergy
  • IV infiltration
  • Temperature
  • Bodily secretions urine, stool, ostomy drainage,
    fistula

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DIAGNOSTIC TESTS
  • SKIN BIOPSY
  • PATCH TESTS
  • SKIN SCRAPING
  • TZANCK SMEAR
  • WOODS LIGHT EXAM
  • PHOTOGRAPHS
  • KOH TEST - FUNGUS

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Specific Test Nursing Considerations
Complete blood count (CBC) Typically there are no specific pre-testing restrictions, although the client should avoid eating a fatty meal prior to the test Standard CBC includes1) white blood cells (WBC)2) red blood cells (RBC)3) hemoglobin content (Hgb)4) hematocrit (Hct)5) mean corpuscular volume (MCV)6) mean corpuscular hemoglobin (MCH)7) mean corpuscular hemoglobin concentration (MCHC)8) platelet count and volume
Cultures - No test prep is needed blood is placed in culture bottles to grow both aerobic and anaerobic specimens to determine causative agent and potential treatment Usually 2 to 3 blood samples are collected at timed intervals and/or from different veins
Enzyme-linked immunosorbent assay (ELISA) also known as EIA (enzyme immunoassay) One of the tests used to diagnose human immunodeficiency virus (HIV) An assay that uses an enzyme-bound antibody to detect antigen The enzyme catalyzes a color reaction when exposed to substrate1) specific color changes indicate specific diseases2) the greater the density of color, the more advanced the diseaseMost types of biological samples can be used, e.g., plasma, serum, urine, cell extracts
Eosinophil count - absolute Measures the number of eosinophils (white blood cells)Usually helps to confirm a diagnosis
Immunoglobulin A (IgA) - Antibody testing focusing on IgA Often used in allergy testing (and in the diagnosis of celiac disease)IgA is usually measured as part of radioallergosorbent testing (RAST) or allergy skin testing
Immunoglobulin E (IgE) - The allergen-specific IgE antibody test Monitors immunotherapy or to see if a child has outgrown an allergyThe level of IgE does not correlate to the severity of an allergic reactionIgE is usually measured by radioallergosorbent testing (RAST) or allergy skin testing
Radioallergosorbent testing (RAST) - Used to identify measurable allergen-specific antibodies, e.g., IgE Tests for reaction to certain respiratory and food allergy stimulantsBlood test - no special prep is needed
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Specific Test Nursing Considerations
Cultures - Used to detect a bacterial wound infection and to determine and isolate the specific type of bacteria A sterile swab is used to collect cells or pus an aspiration of fluid from deeper wounds may be indicated
Patch testing - Indicated when allergic contact dermatitis (ADC) is suspected and does not respond to treatment Procedure1) standard contact allergens are applied to the upper back using adhesive-mounted patches or plastic (Finn) chambers containing minute amounts of allergen2) skin under the patches is evaluated 48 to 96 hours after application
Skin scrapings - Used to diagnose fungal infections and scabies Scales are taken from the border of the lesion and placed onto a microscope slide
Skin biopsy - Bleeding is controlled by medication, electrodesiccation large incisions are closed by sutures Types1) punch biopsy a tubular punch (4 mm diameter) is inserted into deep dermal or subcutaneous tissue to obtain a specimen2) skin shaving superficial lesions are biopsied using a skin scalpel or razor blade
Tzanck testing - Used to diagnose viral infection, e.g., herpes simplex and herpes zoster (but does not differentiate between the two) Performed when active intact vesicles are presentUses a scraping from the vesicle, which is transferred to a slide, stained, and examined microscopically
Wood's light (black light) - Used to distinguish hypopigmentation from depigmentation Fluorescence color changes seen under the black light1) erythrasma fluoresces bright orange-red2) tinea capitis (caused by microsporum canis and microsporum audouinii) fluoresces a light, bright green3) pseudomonas infection may be green fluorescence
  • Skin/wound Studies

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Wounds
  • Assessment
  • acute or chronic etiology of pressure, shearing,
    trauma
  • measurements depth, size, location, "tunneling",
    open, closed
  • staging partial or full thickness, complex
    (involving muscle, bone)
  • Factors impacting wound healing
  • perfusion, oxygenation, nutritional deficiencies,
    infection, underlying systemic condition, topical
    products utilized, medications
  • Principles of successful wound management
  • remove or eliminate causative factors, provide
    appropriate systemic support fluids, nutrition,
    apply appropriate topical products encourage
    moist wound healing and process of occlusion
  • Evaluation of successful wound healing
  • type primary, secondary or tertiary wound
    closure
  • measurement decreasing size, viable tissue,
    decreased exudate, color
  • Modes of caring for skin disorders
  • non-surgical skin care products, nutrition,
    healthy lifestyle
  • surgical debridement, skin grafts and flaps

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Noninfectious Skin Conditions
  • Atopic dermatitis (eczema) inflammation of the
    skin
  • etiology genetic tendency, multifactorial with
    family history of allergies or asthma
    exacerbated by stress and certain foods
  • pathophysiology trigger- increased histamine
    release with inflammatory response, e.g., itching
    and findings of exacerbation
  • Findings dry skin, itching, erythema, macule,
    papule, pustule and even vesicles possible, acute
    weeping areas with excoriated red plaques
  • Diagnostics family history, physical exam,
    laboratory tests eosinophils immunoglobulin E
    (IgE )
  • management control itching, moisturize, remove
    irritants and allergens, and prevent secondary
    problems (infections)
  • products wet compresses, occlusive dressings,
    creams/ointments, hydrocortisone cream, mild
    detergents
  • pharmacologic antihistamines
  • nursing interventions remove allergens, keep
    child's fingernails short, clothe lightly to
    decrease
  • sweating, apply emollient preparation immediately
    after bathing, provide rest periods,
  • provide hypoallergenic diet if appropriate,
    teaching points provide family support

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  • Seborrheic dermatitis (called
    "cradle cap" in infants)
  • definition recurrent inflammatory reaction of
    skin that
  • may also involve the eyelids and external
    ear canal
  • etiology probable dysfunction of sebaceous
    glands
  • findings usually non-pruritic oily scales on
    scalp,
  • forehead and eyebrows or behind
    ears
  • management scalp hygiene with mild baby
    shampoos,
  • hydration creams, baby oil
  • teaching points teach parents how to clean scalp
    and shampoo hair
  • Head Lice - Head lice infect the scalp and hair
    and can be seen at the nape of the neck and over
    the ears. Head lice spread easily and quickly but
    do not carry disease as other lice do

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Diaper dermatitis ("diaper rash")
  • definition inflammatory skin disorder caused
    directly or indirectly by wearing of diapers
  • etiology
  • ammonia in urine, fecal enzymes, detergents,
    moisture, heat
  • can lead to secondary fungal infection
    (especially candida albicans)
  • pathophysiology
  • prolonged and repetitive contact with irritant
    (especially urine ammonia, which is formed by
    urea breakdown from fecal bacteria) inflammation
  • excoriation, with macules or papules and erosion
  • concern secondary infection.
  • findings red, excoriated macules and papules
    maceration
  • management
  • cleaning and frequent diaper changes
  • skin protectants and moisture barriers to keep
    skin dry
  • topical antifungals and steroids
  • if diarrhea, treat underlying cause

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  • Contact dermatitis
  • definition inflammatory reaction of the skin to
    chemical substances natural or synthetic
  • etiology multiple factors and irritants foods,
    solutions, allergens, plants
  • findings irritant and allergic types
  • irritant causes dry, inflamed, pruritic lesions
    where irritant touched
  • allergic blisters after weeping, pruritic,
    lesions
  • management
  • topical applications anti-inflammatory and
    antipruritic
  • cold compresses
  • supportive care, i.e., prevent further exposure
    to offending substance if possible

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  • Acne vulgaris
  • definition most common skin problem treated by
    doctors during adolescence
  • etiology multifactorial (heredity, hormones,
    emotions)
  • pathophysiology
  • puberty increased androgens involves hair
    follicle and sebaceous gland complex
  • increased sebaceous glands secrete more sebum
  • pores become plugged and dilated
  • fatty acids are oxidized on skin and form
    blackheads or
  • internal fatty acids form whiteheads
  • rupture causes local inflammation, sometimes with
    pustules
  • findings whiteheads (closed comedones),
    blackheads (open comedones), papules, pustules,
    nodules, red and excoriated skin
  • management
  • general good cleansing of skin, nutrition, and
    no squeezing or picking at lesions
  • pharmacologic
  • topical applications vitamin A, topical
    antibiotics, topical benzoyl peroxide
  • oral antibiotics
  • possible estrogen, e.g., birth control, for girls
  • teaching points
  • possibility of scarring

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  • Infectious Disorders
  • Impetigo contagiosa
  • definition bacterial infection of skin
  • etiology staphylococcus aureus, group A
    beta-hemolytic streptococcus
  • pathophysiology starts in area of broken skin -
    highly contagious for seven to ten days
  • findings
  • primary pustules or vesicles
  • secondary honey-colored crusts, superficial
    erosion, easily bleeds, pruritic
  • tends to heal without scarring unless secondary
    infection
  • management
  • careful removal of crusts or debris with warm
    soapy solution
  • short fingernails
  • pharmacologic
  • topical antibiotics for early small lesions
  • systemic antibiotics - treatment of choice
  • concerns highly contagious, therefore good hand
    washing no sharing towels or eating utensils

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  • Cellulitis
  • definition infection of dermis and/or
    subcutaneous tissue
  • etiology streptococcal bacteria, e.g.,
    Streptococcus group A or Streptococcus pyogenes
    Staphylococcus aureus Haemophilus influenza
  • pathophysiology
  • starts in area of broken skin
  • highly contagious for days
  • can occur on any part of the body
  • findings
  • affected area red, edematous, tender, occasional
    discoloration
  • enlarged lymph nodes fever, malaise, headache
    "streaking" frequently seen
  • diagnostics
  • CBC and blood cultures
  • possible skin culture
  • management
  • oral or parenteral antibiotics
  • warm moist compresses
  • possible incision and drainage
  • monitor size of area by marking and dating red
    area
  • concerns secondary infection, alteration in skin
    integrity

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  • Temperature-Related Disorders
  • Causedby cold
  • Definitions
  • chilblain skin (usually extremities) becomes red
    and swollen when it is intermittently exposed to
    cold temperatures
  • frostbite tissue damage when ice crystals form
    in tissue
  • hypothermia cooling of the body's core
    temperature to injurious levels (below 95 degrees
    Fahrenheit or 35 degrees Celsius)
  • Findings
  • chilblain redness, edema of hands and feet, may
    burn or itch
  • frostbite
  • blanching, decreased sensation, mottled
  • second degree (cold after rewarming) blisters
    and possible bulla
  • third degree cyanosis, mottling- then red with
    swelling, local necrosis, hemorrhagic vesicles
  • fourth degree complete necrosis, gangrene, loss
    of body part
  • hypothermia cooling of the body's core
    temperature to injurious levels (below 35 degrees
    Celsius)

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  • Management for frostbite
  • cover area immediately but no massaging
  • rewarm in 100 to 108 degree Fahrenheit water -
    immerse affected part
  • give analgesics and sedatives for severe pain
    during rewarming
  • possible surgery - escharotomy
  • hypothermia - 3 categories of rewarming
  • for mild hypothermia - passive external rewarming
    (PER) client is placed in warm environment and
    covered with insulation
  • active external rewarming heat is applied to
    skin over trunk of body only
  • active core rewarming (most effective way to
    rapidly increase core temperature)
  • warmed, humidified air
  • peritoneal dialysis
  • heated irrigation
  • extracorporeal - most rapid means of rewarming

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  • Sunburn
  • Definition dermatitis due to overexposure to the
    sun
  • Etiology overexposure to ultraviolet light waves
    UVA (minor burning) UVB (tanning, burning,
    harmful effects)
  • Prevention
  • avoid sun
  • wear good clothing with a tight weave and eye
    wear
  • apply child appropriate topical sunscreens and
    blocks liberally
  • no direct sun between ten am and three pm
  • Management like a first degree burn

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  • Thermal injuries (burns)
  • Definition injuries to skin resulting from
    extreme heat sources
  • partial thickness first and second degree burns
  • full thickness third and fourth degree burns
  • Etiologies thermal (most common in children),
    chemical, electrical, secondary to irradiation
  • hot water scalding more common in toddlers
  • flame-related burns more common in older children
  • Pathophysiology
  • severity determined by the amount of systemic
    disruption beyond what the body could normally
    compensate
  • minor less than 10 total body surface area
  • moderate 10-20 total body surface area
  • uncomplicated major more than 20 total body
    surface area
  • severity affected by location, concurrent
    inhalation injury, trauma, underlying condition,
    age of child
  • anatomy and physiology of burns
  • depth
  • amount of local tissue destroyed or damaged
  • related to length of exposure and temperature
  • third degree involves muscle, fascia and bone
    wound appears
  • dull and dry and ligaments, tendons and bone may
    be exposed

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  • Findings
  • superficial (first degree) burn localized pain,
    dry surface, blanches with pressure, redness,
    possible blister
  • partial thickness (second degree) burn open
    wound, very painful, denuded skin blistered,
    moist
  • full thickness (third degree) burn
  • tough, leathery, dull dry, with variable pain
    (often severe)
  • color brown/tan/black/red dependent on severity
  • may be life threatening may affect many body
    systems
  • full thickness (fourth degree) burn
  • wound dull and dry
  • ligaments, tendons, bone may be exposed - not
    painful
  • Burn injuries differ in children
  • thinner skin, so tissue damage is more severe
  • fluid volume changes faster than cardiovascular
    system can respond
  • relatively large surface area increases risk for
    losses of fluid and heat
  • increased risk for dehydration and acidosis due
    to diarrhea, insensible fluid loss, and because
    child's body requires higher proportion of water
    than adult's
  • immature immune system increases risk of
    infection
  • long term scars mature more slowly and keloids
    (see image below) may develop

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  • extent of burn determines responses local or
    systemic
  • local response
  • cellular damage and fluid movements - edema
  • fluid leaks into interstitial spaces - fluid lost
    to air
  • fluid is lost to circulating volume - the
    "oliguric" phase
  • burn damages tissue
  • multi-systemic response and potential
    complications
  • cardiovascular dehydration "burn shock"
  • pulmonary respiratory distress, possible
    post-inhalation injury, adult respiratory
    distress syndrome (ARDS), aspiration pneumonia,
    pulmonary edema
  • GI ischemia - decreased bowel sounds, possible
    ileus, Curling's ulcer
  • GU decreased fluids, increasing BUN and
    creatinine
  • metabolic increased basal metabolic rate, vital
    signs
  • neuroendocrine increased ADH and aldosterone
  • CNS possible encephalopathy, seizures, coma,
    altered LOC
  • integumentary burned, infection, scar tissue
    formation and poor healing
  • anemia associated with major burns

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NURSING DIAGNOSIS
  • HIGH RISK FOR IMPAIRED SKIN INTEGRITY
  • PAIN/ITCHING
  • SLEEP PATTERN DISTURBANCE
  • BODY IMAGE DISTURBANCE
  • KNOWLEDGE DEFICIT

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Pediatric Hematology Blood Components
Erythrocytes RBC- carry oxygen to cells and
move carbon dioxide back to lungs average life
span 120 days hemoglobin the iron component of
RBCs blood typing persons with type A can
receive type A or type O blood persons with type
B can receive type B or type O blood persons
with type O can receive only type O
blood Leukocytes increase with infections or
inflammation
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Plasma proteins include albumin and globulins -
measuring plasma proteins helps assess
nutritional status
81
Chromosome Composition
  • Autosomes
  • 22 pairs of chromosomes alike in males and
    females
  • Sex chromosomes
  • Make up the 23rd pair, determining sex of person
  • All males have an X and Y
  • All females have two X chromosomes

82
Disorders of Single-Gene Inheritance (Mendelian)
  • Autosomal Dominant
  • A single mutant allele from an affected parent is
    transmitted to an offspring regardless of sex
  • Autosomal Recessive
  • Manifested only when both members of the gene
    pair are affected (both parents unaffected, but
    carriers)
  • X-Linked Recessive
  • Always associated with the X chromosome
    inheritance pattern is predominately recessive

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Genetic Traits
  • Recessive Inheritance
  • Both parents carry a normal gene (N), and a
    faulty recessive gene (n). The parents, although
    carriers are unaffected by the faulty gene. Their
    offspring are affected (25), not affected (25),
    or carriers (50). Ex Sickle cell, cystic
    fibrosis, B-Thalasemia, PKU
  • Dominant Inheritance
  • One parent has a single, faulty dominant gene
    (D), which overpowers its normal counterpart (d),
    affecting that parent. When the affected parent
    mates with an unaffected and non-carrier mate
    (dd), the offspring are either affected(50) or
    not affected(50), but they are not carriers. Ex
    Von Will brand
  • Carrier
  • A person who is heterozygous for a recessive
    trait and does not manifest the trait

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X-Linked Dominant
  • An affected male has an affected mother because
    males inherit their X chromosome from mothers
  • Some affected females may be less severely
    affected than males because of X-inactivation
  • There may be an excess of female offspring in the
    family, as some X-linked dominant genes are
    lethal in the male
  • Male to male transmission is not seen. Males
    transmit their X chromosome only to their
    daughters.

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Disorders of Red Blood Cells Sickle cell anemia
(SCA) one of a group of diseases in which normal
adult hemoglobin A (HbA) is partly or completely
replaced by abnormal sickle hemoglobin (HbS)
etiology autosomal recessive disease 1 in 2
African-Americans carries the trait, while 1 in
375 is affected with sickle cell disease
pathophysiology trigger - RBC's shape becomes
sickled and clump generalized microvascular
occlusion (vaso-occlusive crisis)
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Sickle cell anemia (SCA) Findings result from
obstruction caused by sickled RBCs, RBC
destruction, hypoxia organ dysfunction (spleen,
liver, kidney) due to ischemia and
infarction painful exacerbations called crises
vaso-occlusive - painful distal ischemic usually
hands and feet sequestration crisis - pooling of
blood in liver and spleen aplastic crisis -
diminished RBC production hyperhemolytic crisis
increased destruction of RBC diagnostics
newborn screening electrophoresis (hemoglobin)
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Sickle cell anemia (SCA) therapeutic
management aims at therapy to prevent sickling
phenomenon hydration oxygen analgesics
antibiotics (prophylaxis with penicillin
recommended) folic acid genetic
counseling nursing interventions formulate
teaching plan for patient and family encourage
fluids apply to affected areas as ordered
accurate I O medicate for discomfort as
ordered teaching points how to administer
prophylactic antibiotics findings of infection
how to increase fluid intake especially in hot
weather
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Specific Test Nursing Considerations
Activated partial thromboplastin time (PTT or aPTT) Used to 1) investigate a bleeding or thrombotic episode2) monitor unfractionated (standard) heparin anticoagulant therapyBlood draw
Basic metabolic panel (BMP or chemistry panel) Standard BMP includes (8 specific tests) glucose, calcium, electrolytes (sodium potassium, carbon dioxide, chloride, bicarbonate), kidney tests (blood urea nitrogen BUN creatinine)Blood draw - may be collected on a random basis or drawn after fasting 10 to 12 hours prior to the blood drawWhen more information is needed, a complete metabolic panel (CMP) may be ordered
Blood smear (Red blood cell morphology) Microscopic examination of red blood cell irregularities, including size, shape and colorBlood draw can also use finger or ear prick heel prick with infant - no prep required
Complete blood count (CBC) Typically there are no specific pre-testing restrictions, although the client should avoid eating a fatty meal prior to the testStandard CBC includes1) number of white blood cells (WBC)2) number of red blood cells (RBC)3) total amount of hemoglobin content (Hgb)4) hematocrit (Hct) - fraction of the blood composed of RBCs5) mean corpuscular volume (MCV) - the size of RBCs6) mean corpuscular hemoglobin (MCH)7) platelet count and volume (note decreased platelet numbers increase bleeding tendency)
Coagulation factors Tests to measure the function of specific coagulation factors evaluate bleeding episodesBlood draw - no specific prep
D-dimer To help diagnose or rule out thrombotic diseases and conditionsBlood draw - no specific prep
Ferritin Used to determine the body's total iron storage capacityBlood draw - client should be NPO 12 hours before the test water is permitted
Fibrinogen Used to determine whether fibrinogen levels are adequate to allow for normal blood clottingBlood draw - no specific prep
Haptoglobin Used to detect and evaluate hemolytic anemiaBlood draw - no specific prep
Hemoglobin electrophoresis Used to evaluate the different types of hemoglobin in the bloodThe most common types of normal hemoglobin hemoglobin F (fetal hemoglobin), hemoglobin A, hemoglobin A2 There are over 400 different types of abnormal hemoglobin, including hemoglobin S, hemoglobin C, hemoglobin D are present in sickle cell diseaseBlood draw - no specific prep
Iron Blood draw - client should be NPO 12 hours before the test water is permitted (see TIBC below)
Osmotic fragility Used to detect whether red blood cells are more likely to break downBlood draw - no prep requiredA negative test is normal
Platelet aggregation (platelet function assay) Used to help determine the cause of or potential for excessive bleeding, to monitor and evaluate platelet function and monitor presence and effectiveness of antiplatelet medicationBlood draw - client should not take medications that could interfere with the test, e.g., aspirin, NSAIDs
Prothrombin time (PT) Used to 1) determine how well anticoagulants are working2) diagnose bleeding disordersBlood draw (or may be finger stick) - no special prep unless client is taking anticoagulants, when the specimen should be collected prior to receiving daily dose
Reticulocyte count Used to1) help evaluate the bone marrow's ability to produce red blood cells 2) help distinguish between different types of anemias 3) help monitor response to treatment, e.g., chemotherapy, bone marrow transplantBlood draw or for infant, pricking finger or heel - no special prep
Sickle cell tests (also known as hemoglobin S or Hgb S) Used to determine whether a person has sickle cell trait or disease by measuring the presence and amount of hemoglobin SBlood draw - if test is used for diagnosis, the sample should not be drawn after a recent blood transfusion
Total iron-binding capacity (TIBC UIBC, Transferrin) Used to assess ability to transport iron in the bloodTransferrin saturation is calculated using both the TIBC and the serum iron testBlood draw - client may need to be NPO 12 hours before the test water is allowed
Transferrin saturation Calculated using both the TIBC and serum iron test (see above)Blood draw - client may need to be NPO 12 hours before the test water is allowed
Vitamin B12 Folate B12 and folate are usually ordered to help diagnose the cause of macrocytic anemiaAdditional tests are ordered to determine the cause of a B12 deficiency1) Shilling test - to diagnose pernicious anemia (this test is no longer generally available)2) Intrinsic Factor Binding Antibody (this is a specialized test that is not commonly available)3) Intrinsic Factor Blocking Antibody4) Parietal Cell AntibodyOverview of lab results 1) deficiencies clients with B12 or folate deficiency are treated with supplements (or with B12 injections)2) high levels of B12 and folate-increased B12 may be seen in conditions such as leukemia or liver dysfunction-increased folate may be seen with pernicious anemia and vegetarian dietsBlood draw - client should be NPO 6 to 8 hours before sample collection
White blood cell count differential Used to assess the ability of the body to respond to and eliminate infectionTypically run as part of the CBCWhite blood cell components neutrophils, eosinophils, basophils, lymphocytes, monocytes
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B-Thalassemia definition inherited blood
disorder characterized by deficiencies in rate of
production of specific globin chains in
hemoglobin etiology autosomal recessive
disorder, also known as Cooley's anemia
pathophysiology abnormal, chronic production
and destruction of RBC's resulting in
insufficient amounts of normal circulating
hemoglobin findings severe anemia, pallor
microcytic RBCs impaired growth splenomegaly
diagnostics hemoglobin and hematocrit
hemoglobin electrophoresis x-rays of involved
bones management chronic transfusion therapy to
maintain hemoglobin of 10 gm/dL referral for
chelation counseling genetic counseling
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Bleeding disorders Idiopathic thrombocytopenic
purpura (ITP) definition an acquired
hemorrhagic disease etiology unknown but often
occurs one to two weeks after a febrile viral
illness Pathophysiology, auto-immune disorder,
platelets are killed and fewer are made may be
acute and self-limiting or chronic Findings
excessive bruising, petechiae, internal bleeding
diagnostics laboratory platelet count,
bleeding time, bone marrow aspiration management
pharmacologic corticosteroids intravenous
immunoglobulins (IVIG) immunosuppression immunoab
sorption apheresis (to filter antibodies from
bloodstream) splenectomy for chronic
disease Nursing interventions monitor for
bleeding episodes provide for age appropriate
diversional activities teaching points should
not participate in contact sports should not use
aspirin use acetaminophen (Tylenol) to relieve
pain
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Von Willebrand's Disease definition hereditary
bleeding disorder etiology congenital
(autosomal dominant) bleeding disorder affects
both males and females Pathophysiology body
makes too little Von Willebrand's factor and
factor VIII prolonged bleeding time findings
excessive bleeding of mucous membranes gums,
epistaxis (nosebleed), menorrhagia diagnostics
bone marrow aspiration management
replacement of missing clotting factor and/or
administration of antidiuretic, e.g.,
desmopressin acetate (DDAVP)
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Aplastic anemia definition bone marrow failure
Etiology congenital, e.g., Fanconi syndrome
acquired due to exposure to overwhelming
infection, e.g., hepatitis, HPV causative agents
such as antineoplastic agents, chemicals,
chloramphenicol Pathophysiology bone marrow
stops making erythrocytes, leukocytes, and
platelets (thrombocytes) result
pancytopenia findings petechiae, bruising,
pallor, fatigue, myelosuppression diagnostics
bone marrow aspiration therapeutic
management anti-thymocyte globulin (ATG),
anti-lymphocyte globulin (ALG) if severe, bone
marrow transplant is treatment of choice
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Hemophilia definition group of bleeding
disorders in which there is a deficiency of one
of the factors necessary for coagulation of
blood etiology x-linked recessive
disorder pathophysiology missing or defective
factor VIII or factor IX blood components
necessary for blood coagulation Findings
mild-severe prolonged bleeding most often in
muscles and joints (hemathrosis), longterm loss
of range of motion of affected joints Diagnostics
history of bleeding episodes, partial
thromboplastin time (PTT) assay procedures for
specific factor deficiencies Management
replacement of missing clotting factor, factor
VIII concentrate, desmopressin acetate (DDAVP) -
an anitdiuretic that aids blood clotting,
prophylactic treatment with clotting factor
before surgery and some other procedures,
pressure to bleeding site, and ice, rest,
elevation, immobilization nursing interventions
prevent bleeding with appropriate exercise,
brushing teeth with soft toothbrush, recognize
and control bleeding, support family, assess
school activities teaching points child should
wear MedicAlert identification, genetic
counseling for parents
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Disseminated intravascular coagulation (DIC)
definition disorder of coagulation Etiology
secondary disorder of coagulation that
complicates other disorders itriggered by
endothelial damage such as trauma, shock,
infections, hypoxia, liver disease Pathophysiolog
y the first stage of the coagulation process is
abnormally stimulated, clotting mechanism is
triggered in circulation, thrombin is generated
in greater amounts than the body can neutralize,
rapid conversion of fibrinogen to fibrin with
aggregation and destruction of platelets, local
and widespread fibrin deposition in blood vessels
causes obstruction and necrosis, fibrinolytic
mechanism causes extensive destruction of
clotting factors Findings bleeding, bruising,
petechiae, altered serum levels of
clotting-related factors (increased PT, PTT, TT,
decreased platelets, degraded fibrinogen),
clotting, hypoxemia, intracranial hemorrhage,
progressive organ failure, diagnostics
prothrombin time (PT), partial thromboplastin
time (PTT) and thrombin time, platelets, fibrin
degradation products, fibrinogen Management
control of underlying etiology, factor
replacement, platelets, fresh frozen plasma (FFP)
and RBC transfusions, vitamin K, oxygen nursing
Interventions monitor IV infusions, blood
transfusions, administer Heparin as ordered,
monitor any severely ill child to recognize
presence of this disorder
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