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Chapter 35 Cutaneous Vascular Diseases


Palpable purpura is the hallmark. Pinpoint to several centimeters ... Mononeuritis multiplex, most often manifested as foot drop, is the hallmark of PAN ... – PowerPoint PPT presentation

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Title: Chapter 35 Cutaneous Vascular Diseases

Chapter 35 Cutaneous Vascular Diseases
  • Clinicopathologic process characterized by
    inflammation and necrosis of blood vessels
  • Blood vessel size is useful in classifying these

Classification cutaneous small-vessel disease
  • Idiopathic cutaneous small-vessel vasculitis
  • Henoch-Schönlein purpura
  • Acute hemorrhagic edema of infancy
  • Urticarial vasculitis
  • Essential mixed cryoglobulinemia
  • Waldenströms hypergammaglobulinemic purpura
  • Collagen vascular associated
  • Rheumatoid nodules with vasculitis
  • Hyperimmunoglobulinemia D syndrome
  • Familial Mediterranean fever

Classification cutaneous small-vessel disease
  • Erythema elevatum diutinum
  • Granuloma faciale
  • Reactive Hansens disease
  • Septic vasculitis

Medium-vessel necrotizing vasculitis
  • Polyarteritis nodosa
  • Benign cutaneous forms
  • Systemic form (including microscopic variant)
  • Granulomatous vasculitis
  • Limited Wegeners granulomatosis
  • Wegeners granulomatosis
  • Allergic granulomatosis (Churg-Strauss)

Large-vessel vasculitis
  • Giant-cell arteritis
  • Takayasus arteritis

Cutaneous small-vessel vasculitis (leukocytoclasti
c vasculitis)
  • Palpable purpura is the hallmark
  • Pinpoint to several centimeters
  • Early on lesion may not be palpable
  • Papulonodular, vascular, bullous, pustular or
    ulcerated forms may develop
  • Predominate on the ankles and lower legs
  • Affect mainly dependent areas

Cutaneous small-vessel vasculitis (leukocytoclasti
c vasculitis)
  • Mild pruritis, fever, malaise, arthralgia and/or
    myalgia may occur
  • Typically resolve in 3 to 4 weeks
  • Residual postinflammatory hyperpigmentation may
    be seen
  • Self-limiting
  • May recur or become chronic
  • Hemorrhagic vesicles or bullae may develop

Cutaneous small-vessel vasculitis (leukocytoclasti
c vasculitis)
  • Urticaria-like lesions are next most common
  • They have less evanescence than ordinary hives
  • Usually resolve after a few days
  • Edema, especially of the ankles, is usually noted
  • Arthralgias may be seen
  • Major renal manifestation is glomerulonephritis
  • May have gastrointestinal involvement

  • Agiocentric segmental inflammation, endothelial
    cell swelling, fibrinoid necrosis of blood vessel
    walls and a cellular infiltrate composed of
    neutrophils showing fragmentation of nuclei

  • Many forms of small-vessel vasculitis are felt to
    be caused by circulating immune complexes
  • These lodge in vessel walls and activate

  • Types of antigens inducing immune complexes vary
  • Some infectious agent and drugs are well defined

Clinical evaluation
  • Detailed history and physical examination
  • History should focus on possible infectious
    disorders, prior associated diseases, drugs
    ingested, and a thorough review of systems
  • Cbc, strep throat culture or ASO titer, Hep B C
    serologies and ANA are a reasonable initial screen

  • Initial treatment should be nonaggressive
  • Rest and elevation of the legs
  • Analgesics, a good diet, and avoidance of trauma
    or cold
  • Any identified antigen or drug should be

  • A variety of systemic treatments may be required
    for severe, intractable or recurrent disease
  • For disease limited to the skin NSAIDs,
    antihistamines, colchicine and dapsone
  • Systemic corticosteroids for those with systemic
    manifestations or necrotic lesions
  • Immunosuppressive agents for rapidly progressive
    course and severe systemic involvement

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Subtypes of Small-Vessel Vasculitis
Henoch-Schönlein purpura ((HSP) anaphylactoid
  • Characterized by intermittent purpura,
    arthralgia, abdominal pain, and renal disease
  • Typically purpura appears on the extensor
    surfaces of the extremities
  • Become hemorrhagic within a day and fades in 5
  • New crops appear over a few weeks

Henoch-Schönlein purpura ((HSP) anaphylactoid
  • Primarily occurs in male children
  • Peak age 4-8 years
  • Adults may be affected
  • A viral infection or streptococcal pharyngitis
    are the usual triggering event
  • In about 40 of the cases the cutaneous
    manifestations are preceded by mild fever,
    headache, joint symptoms, and abdominal pain for
    up to 2 weeks

Henoch-Schönlein purpura ((HSP) anaphylactoid
  • May be pulmonary hemorrhage
  • Abdominal pain and GI bleeding may occur at any
  • GI radiographs may show spiking or a marbled
    cobblestone appearance
  • Renal manifestations may occur in 25 or more

Henoch-Schönlein purpura ((HSP) anaphylactoid
  • The long-term prognosis in children with gross
    hematuria is very good however, progressive
    glomerular disease and renal failure may develop
    in a small percentage
  • IgA, C3 and fibrin depositions have been
    demonstrated in biopsies of both involved and
    uninvolved skin by immunofluorescence techniques

Henoch-Schönlein purpura ((HSP) anaphylactoid
  • Treatment is supportive
  • Duration of illness is typically 6 to 16 weeks
  • Between 5 and 10 of patients will have
    persistent or recurrent disease
  • Antispasmodics, antibiotics, and antiinflammatory
    drugs, including systemic corticosteroids
  • Plamaphoresis in severe cases

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Acute Hemorrhagic edema of infancy
  • AKA Finkelsteins disease, Seidlmayer syndrome,
    and purpura en cocarde avec oedema
  • Affects children under the age of 2 with a recent
    history of an upper respiratory illness, a course
    of antibiotics of both
  • Children are often nontoxic in appearance

Acute Hemorrhagic edema of infancy
  • Abrupt onset of large cockade, annular, or
    targetoid purpuric lesions involving the face,
    ears, and extremities
  • Early in the course there may first be acral
    edema, may be nontender and asymmetrical
  • Low-grade fever is common, and involvement of
    internal organ systems is rare
  • Routine lab tests are nondiagnostic

Acute Hemorrhagic edema of infancy
  • Considered a variant of leukocytoclastic
    vasculitis with many similarities to HSP
  • Spontaneous recovery within a few weeks
  • DDX includes meningococcemia, HSP, erythema
    multiforme, urticaria and Kawasakis disease
  • Clinically most urgent to exclude meningococcemia

Acute Hemorrhagic edema of infancy
Urticarial vasculitis
  • Distinctive syndrome involving hypocomplementemia,
    arthritis, arthralgia, angioedema, abdominal or
    chest pain ,or both, and in some cases pulmonary
    and renal involvement

Urticarial vasculitis
  • Three clinical features distinguish the skin
    lesions of urticarial vasculitis from urticaria
  • 1. Lesion are usually painful rather than
  • 2. Lesions last longer than 24 hours
  • 3. On healing there is postinflammatory

Urticarial vasculitis
  • Underlying diseases may be associated
  • Treatment options include those used to treat
    leukocytoclastic vasculitis
  • Additionally plaquenil 200 mg bid

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Hyperimmunoglobulinemia D syndrome
  • Characterized by recurrent high-spiking fevers
    with abdominal distress, diarrhea, vomiting,
    headache, and arthralgias
  • Up to 79 of HID syndrome will have cutaneous
  • Most common skin eruptions include erythematous
    macules, erythematous papules, urticarial lesions
    and erythematous nodules

Hyperimmunoglobulinemia D syndrome
  • Lymphadenopathy and splenomegaly are common
  • Age of onset usually under 10 years
  • Marked elevations in serum IgD are characteristic
  • No preferred treatment
  • Colchicine
  • dapsone

Familial Mediterranean fever
  • A periodic fever syndrome that may be confused
    with HID syndrome
  • Has been reported to affect Sephardic Jews,
    Armenians, and individuals of Arabian descent
  • Onset usually under 10 years
  • Cutaneous findings consist of erysipelas-like
    erythema showing a sharp border

Familial Mediterranean fever
  • Affects the lower extremities on the dorsa of the
    feet , over the ankles, and sometimes the knees
  • Erysipelas-like erythema is considered
    characteristic, however this occurs in only 3 to
    46 of patients
  • Arthralgias, peritonitis, and constipation may
  • No lymphadenopathy, and no elevation of IgD

Familial Mediterranean fever
  • On skin biopsy there is most frequently
    leukocytoclastic vasculitis
  • Defect at chromosome 16 polymorphic locus RT70
  • Tx - colchicine

Erythema elevatum diutinum
  • A rare condition considered to be a chronic
    fibrosing leukocytoclastic vasculitis
  • Classically multiple yellow papules develop over
    the joints, particularly the elbows, knees,
    hands, and feet
  • May involve the buttocks and areas over the
    Achilles tendon
  • With time the papules take on a doughy to firm
    consistency and develop red to purple

Erythema elevatum diutinum
  • Most patients are asymptomatic pruritis
    arthralgias and pain have been reported
  • The prominence of eosinophils the chronicity of
    the process, which results in perivascular dermal
    fibrosis and the admixture of plasma cells and
    many lymphocytes are the hallmarks of EED
  • TOC Dapsone

Erythema elevatum diutinum
Granuloma faciale
  • Characterized by brownish-red, infiltrated
    papules, plaques, and nodules
  • Involves facial areas, particularly the nose
  • Typically healthy middle aged white men
  • Pathology of GF is identical to EED

Granuloma faciale
  • Intralesional corticosteroids
  • Cryotherapy
  • Topical corticosteroids
  • Dapsone, colchicine, antimalarials
  • Topical PUVA and gold injections
  • Dermabrasion, pulsed dye laser, electrosurgery,
    and cryosurgery

Granuloma faciale
Serum sickness
  • A clinical syndrome resulting from circulating
    immune complexes that may occur after primary
    exposure to heterologous antisera or drugs
  • Patient may develop fever, lymphadenopathy,
    arthralgia, proteinuria and skin lesions
  • Urticarial or morbilliform, and tend to marginate
    along the demarcation of the palms and soles from
    the dorsa of the extremities (Wallaces line)

Serum sickness
  • Has been a complication of wasp venom
    immunotherapy, streptokinase therapy, and
    intravenous immune globulin , and with the use of
    antibiotics such as penicillin. Minocycline,
    rifampicin, cefprozil, and cefacor

Polyarteritis nodosa
  • Characterized by necrotizing vasculitis affecting
    the small and medium-sized muscular arteries of
    such caliber as the hepatic and coronary vessels
    and the arteries in the subcutaneous tissue, and
    sometimes adjacent veins
  • Two major forms the benign cutaneous and the

Polyarteritis nodosa
  • Microscopic polyangiitis is considered to be a
    subset of systemic PAN
  • Segmental necrotizing and crescentic
    glomerulonephritis associated with extrarenal
    vasculitis involving small-size vessels without
    granulomas or asthma

Polyarteritis nodosa cutaneous manifestations
  • Skin involvement in up to 40 of patients with
    systemic PAN
  • Wide range of findings
  • 15 5 to 10 mm subcutaneous nodules occurring
    singly of in groups distributed along the course
    of blood vessels
  • Skin above is normal or slightly erythematous
  • Often painful, may pulsate or ulcerate

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Polyarteritis nodosa internal manifestations
  • Classic systemic periarteritis may involve the
    vessels throughout the entire body
  • Hypertension, tachycardia,fever, edema and weight
    loss are the cardinal signs of the disease
  • Mononeuritis multiplex, most often manifested as
    foot drop, is the hallmark of PAN

Polyarteritis nodosa laboratory findings
  • Leukocytosis as high as 40,000 may occur with
    neutrophilia to 80
  • Thrombocytosis and progressive normocytic anemia
    and elevated sed rate may be found
  • Hypergammaglobulinemia with macroglobulins may be
  • Hepatitis C studies should be performed
  • Urinary abnormalities seen in 70

Polyarteritis nodosa lab
  • Patients with microscopic polyangiitis have
    positive titers for peripheral antimyeloperoxidase
    (P-ANCA) as opposed to the cytoplasmic (C-ANCA)
    form found in systemic PAN

Polyarteritis nodosa epidemiology
  • 4 X more common in men than women
  • Mean age 45 yrs
  • Seen in IV drug abusers and in assoc with SLE,
    inflammatory bowel disease, hairy cell leukemia,
    and familial Mediterranean fever

Polyarteritis nodosa pathology
  • Histology is that of an inflammatory necrotizing
    and obliterative panarteritis that attacks the
    small and medium-sized arteries

Polyarteritis nodosa treatment
  • Untreated classic PAN has a 5 year survival rate
    of 13
  • Death usually occurs from renal failure or
    cardiovascular or GI complications
  • Tx with corticosteroids and cytotoxic agents has
    increased the survival rate to more than 90
  • cyclophosphamide

Cutaneous polyarteritis nodosa
  • Remarkable for an absence of visceral involvement
  • Patients usually have recurrent skin, joint, and
    muscle involvement without involvement of vital
  • Cutaneous findings similar to those described
    for the systemic form
  • Most patient respond well to aspirin, prednisone,
    methotrexate, alone or in combination

Wegeners granulomatosis
  • Syndrome consisting of necrotizing granulomas of
    the upper and lower respiratory tract,
    generalized necrotizing angiitis affecting the
    medium-sized blood vessels, and focal necrotizing
  • The commonest initial manifestation is the
    occurrence of rhinorrhea, severe sinusitis, and
    nasal mucosa ulcerations, with one or several
    nodules in the nose, larynx, trachea, or bronchi

Wegeners granulomatosis
  • Fever, weight loss and malaise occur
  • mf1.31
  • The strawberry gums appearance of hypertrophic
    gingivitis is characteristic
  • Cutaneous findings occur in 45 of patients
  • Nodules may appear in crops, especially along the
    extensor surface of the extremities
  • Firm,slightly tender, flesh-colored or violaceous
    nodules may later ulcerate

Wegeners granulomatosis
  • The early detection of Wegeners granulomatosis
    has improved since the discovery of the assoc
    with C-ANCA
  • Focal necrotizing glomerulitis occurs in 85 of
  • Other organs frequently involved include the
    joints, eyes and CNS

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Wegeners granulomatosis
  • Histologically the cutaneous lesions may
    demonstrate a leukocytoclastic vasculitis with or
    without granulomatous inflammation

Wegeners granulomatosis
  • Untreated WG has a mean survival time of 5 months
    and a90 mortality over 2 years
  • Cyclophosphamide
  • Trimethoprim-sulfamethoxazole

Allergic granulomatosis (Churg-Strauss syndrome)
  • AKA necrotizing angiitis with granulomata
  • Characterized by distinctive initial
    manifestation of asthma
  • A debilitated asthmatic begins after 2 to 12
    years to experience attacks of fever and
  • After a few more months or years, diffuse
    angiitis involves the lung, heart , liver, spleen
    , kidneys, intestine, and pancreas

Allergic granulomatosis (Churg-Strauss syndrome)
  • A fatal outcome is most likely in untreated
    patients, with congestive heart failure resulting
    from myocarditis the most frequent cause of death
  • Cutaneous lesions are present in 2/3 of patients
  • Nodules may appear on the extensor surface of the
    extremities and on the scalp
  • Firm nontender papules may be present on the
  • Purpura and hemorrhagic bullae are present

Allergic granulomatosis (Churg-Strauss syndrome)
  • Lab is significant for peripheral eosinophilia,
    which correlates with disease severity
  • Frequently for P-ANCA and less frequently for
    C-ANCA, and tend to correlate with disease
  • Cause is unknown
  • Several drugs have been implicated in
    precipitating it
  • Zafirlukast, Azithromycin, freebase cocaine

Lethal midline granuloma
  • Clinical term describing those entities that
    produce progressive destructive ulcerations of
    the nose, sinuses, palate, or pharynx-the central
    part of the face
  • First sign may be a chronic mucoid nasal
    discharge that later becomes purulent
  • Eventually there is necrosis of the facial bones
    and base of the skull
  • Patients are most often men 20-50yrs

Lethal midline granuloma
  • Three main histologic and clinical divisions
  • 1. Lymphoma
  • 2. Nonneoplastic granulomatous tissue reaction
  • 3. Wegeners granulomatosis
  • Types 1 and 2 respond to radiation therapy

Giant-cell arteritis
  • Systemic disease of people over the age of 50
  • Its best known location is in the temporal
    artery, where it is known as temporal arteritis,
    cranial arteritis, and Hortons disease
  • Characterized by a necrotizing panarteritis with
    granulomas and giant cells

Giant-cell arteritis
  • Unilateral headache and exquisite tenderness in
    the scalp over the temporal arteries
  • Fever, anemia, and a high sed rate are usually
  • Rarely fatal
  • Has been shown to involve the vessels of the
    coronary arteries, breast, uterus, legs, abdomen
    and hand

Giant-cell arteritis
  • Cutaneous manifestations may only be inflammatory
  • Affected artery becomes hard, pulsating, tender,
    tortuous bulge under red or cyanotic skin
  • Another manifestation is gangrene of the scalp

Giant-cell arteritis
  • Polymyalgia rheumatica has a significant clinical
  • Prompt treatment may forestall serious disease
  • ERS rates are elevated in more than 90 of pts
  • Temporal artery biopsy is diagnostic
  • MRI may be of value

Giant-cell arteritis treatment
  • Prednisone
  • Disease is quite responsive

Giant-cell arteritis
Takayasus arteritis
  • AKA aortic arch syndrome and pulseless disease
  • Thromboobliterative process of the great vessels
    stemming from the aortic arch
  • Generally occurs in young women
  • Radial and carotid pulses are typically
  • Skin changes are due to disturbed circulation

Takayasus arteritis
  • May be loss of hair and atrophy of the skin and
    its appendages, with underlying muscle atrophy
  • Corticosteroids as in GCA
  • Methotrexate
  • With active medical and surgical intervention the
    aggressive course of this disease can be modified

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Malignant atrophic papulosis
  • Degos disease
  • Potentially fatal obliterative arteritis syndrome
  • Most frequently in men 20-40
  • Patients survive untreated an average of 2 years

Malignant atrophic papulosis
  • Clinically it is characterized by the presence of
    pale rose, rounded, edematous papules
  • Occurring mostly n the trunk
  • Similar lesions may occur on the bulbar
    conjunctiva and the oral mucosa
  • Anemic infarcts involve the intestines
  • Death is usually due to fulminating peritonitis
    caused by multiple perforations of the intestine

Malignant atrophic papulosis
  • Wedge-shaped necrosis brought on by the occlusion
    of arterioles and small arteries account for the
    clinical lesions
  • Etiology is unknown
  • Inherited forms have been reported
  • Corticosteroids have not proven beneficial
  • Acetylsalicylic acid and persantine
  • Anticoagulation therapy

Thromboangiitis obliterans (Buergers disease)
  • An obliterative vascular disease affecting the
    medium and small sized arteries, especially those
    of the feet and hands
  • Most often seen in men 20 to 40 who smoke heavily
  • Vasomotor changes in early cases may be
    transitory or persistent,producing blanching,
    cyanosis, burning, and tingling

Thromboangiitis obliterans (Buergers disease)
  • Pain is a constant symptom, coming only at first
    after exercise and subsiding on resting
  • Instep claudication is the classic complaint
  • There is a strong association with cigarette
  • Exposure to cold and dampness may have etiologic
  • arteriography should be done

Thromboangiitis obliterans (Buergers disease)
  • A characteristic tapering of the arteries with
    corkscrew collateral circulation is found in
    Buergers disease
  • Cessation of smoking
  • Other forms of therapy are only palliative
  • Serial amputations are often necessary

Thromboangiitis obliterans (Buergers disease)
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Arteriosclerosis obliterans
  • An occlusive arterial disease most prominently
    affecting the abdominal aorta and the small an
    medium sized arteries of t he lower extremities
  • Symptoms are due to ischemia of tissues
  • Intermittent claudication manifest by pain,
    cramping, numbness, and fatigue in the muscle on
    exercise these are relieved by rest

Arteriosclerosis obliterans
  • May be rest pain at nighttime when in bed
  • Impaired to absent pulses may be found on
    physical exam, confirming the diagnosis
  • Feet, esp the toes, may be red and cold
  • Diabetes and smoking play a role in the
    progression of the disease
  • Claudication and diminished blood pressure in the
    affected extremity are findings that may lead to
    an earlier diagnosis and thus curative surgical

Arteriosclerosis obliterans
  • Treatment with bypass of the affected artery or
    sympathectomy or both

Mucocutaneous lymph node syndrome (Kawasakis
  • Irritable, febrile infants and children (or
    rarely adults) with erythema multiforme-like,
    scarlatiniform, or morbilliform skin lesions
    accompanied by stomatitis, cheilitis, edema of
    the hands and feet, conjunctival congestion and
    cervical lymphadenitis
  • Peak age at 6 months

Mucocutaneous lymph node syndrome (Kawasakis
disease) diagnosis
  • Six criteria have to be identified
  • Fever
  • Conjunctival congestion
  • Oropharangeal lesion
  • Hand and foot lesions
  • An exanthem
  • lymphadenopathy

Mucocutaneous lymph node syndrome (Kawasakis
  • To make the diagnosis a patient should have a
    fever above 38.3 C for 5 days plus 4 of the 5
    following criteria
  • Peripheral extremity changes
  • Polymorphous exanthem
  • Nonpurulent bilateral conjunctival injection
  • Changes in the lips and oral cavity
  • Acute, nonpurulent cervical adenopathy

Mucocutaneous lymph node syndrome (Kawasakis
  • An early finding is the appearance of an
    erythematous , desquamating perianal eruption,
    usually within the first week of symptoms
  • disease last 10 to 20 days the subsides
  • 1 to 2 may die from MI

Mucocutaneous lymph node syndrome (Kawasakis
disease) pathology
  • Coronary arterial disease occurs and
    thrombocythemia may occur
  • In combination vessel occlusion may occur and the
    subsequent MI, which occur as the child is
    recovering from the acute illness

Mucocutaneous lymph node syndrome (Kawasakis
disease) treatment
  • IVGG is the cornerstone of treatment
  • Antiplatelet therapy with aspirin is recommended

Mucocutaneous lymph node syndrome (Kawasakis
  • Fine linear vessels coursing on the surface of
    the skin
  • May occur in normal skin at any age
  • Both sexes
  • Anywhere on the skin and mucous membranes
  • Prominent in areas of chronic actinic damage
  • Nifedipine and felodipine

  • Seen in association with many conditions
  • Altered capillary patterns on the fingernail
    folds are indicative of collagen vascular
  • In rosacea best treated with the tip of the
    epilating needle
  • Sclerosing
  • lasers

Generalized essential telangiectasia
  • Characterized by the dilation of veins and
    capillaries over a large segment of the body
    without preceding or coexisting skin lesions

Generalized essential telangiectasia
  • Characteristic features include
  • Widespread cutaneous involvement
  • Progression or permanence of the lesions
  • Accentuation by dependent positioning
  • Absence of coexisting epidermal or dermal changes

Generalized essential telangiectasia
  • Develops most frequently in women in their 40s
    and 50s
  • Initial onset is on the lower legs
  • Spreads to the upper legs, abdomen, and arms
  • Cause is unknown

Generalized essential telangiectasia
Unilateral nevoid telangiectasia
  • Fine threadlike telangiectasia develop in a
    unilateral, sometimes dermatomal distribution
  • Rare in men
  • Tends to be assoc with increased levels of
  • Has been assoc with Hep C
  • The most commonly accepted theory is an increased
    level of estrogen receptors in involved skin

Hereditary hemorrhagic telangiectasia (Oslers
  • AKA Osler-Weber-Rendu disease
  • Characterized by small tufts of dilated
    capillaries scattered over the mucous membranes
    and the skin
  • Develop mostly on the lips, tongue, palate, nasal
    mucosa, ear, palms, fingertips, nailbeds and
  • Frequent nose bleeds and melena are experienced

Hereditary hemorrhagic telangiectasia (Oslers
  • Epistaxis is the most frequent and persistent
  • GI bleeding is the presenting sign in up to 25
    of cases
  • Telangiectasias tend to increase in number in
    middle age, the first appearance on the
    undersurface of the tongue and floor of the mouth
    is at puberty

Hereditary hemorrhagic telangiectasia (Oslers
  • The disease is inherited as an autosomal dominant
  • The vascular abnormalities found in HHT consists
    of direct arteriovenous connections without an
    intervening capillary bed
  • Germline mutations in one of two different genes,
    endoglin or ALK-1, can cause HHT

Hereditary hemorrhagic telangiectasia (Oslers
disease) treatment
  • Several methods have been recommended
  • Epistaxis has been reduced by estrogen therapy
  • Dermoplasty of the bleeding nasal septum
  • Aminocaproic acid

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Bloom syndrome (Bloom-Torre-Machacek syndrome)
  • Transmitted as an autosomal recessive trait
  • Characterized by telangiectatic erythema in the
    butterfly area of the face, photosensitivity and
  • Telangiectatic erythematous patches resembling
    lupus erythematosus develop in the first two
    years of life
  • Exacerbation in summer months

Bloom syndrome (Bloom-Torre-Machacek syndrome)
  • The stunted growth is characterized by normal
    body proportions, no endocrine abnormalities, and
    low birth weight at full term
  • The gene (BML) defect has been localized to
    15q26.1, resulting in a deficient ATP-dependent
    DNA-helicase activity

Bloom syndrome (Bloom-Torre-Machacek syndrome)
  • About ¼ patients under age 20 develop a neoplasm
  • Regular use of sunscreen is recommended

Bloom syndrome (Bloom-Torre-Machacek syndrome)
Hereditary sclerosing poikiloderma and
mandibuloacral dysplasia
  • Heritable, widespread poikilodermatous and
    sclerotic disorder
  • Skin changes consist of generalized poikiloderma
    with hyperkeratotic and sclerotic cutaneous bands
    extending across the antecubital spaces, axillary
    vaults, and popliteal fossae
  • The is no treatment

Scleroatrophic syndrome of Huriez
  • Characterized by
  • Scleroatrophy
  • Ridging or hypoplasia of the nails
  • Lamellar keratoderma of the hands, and to a
    lesser extent, the soles
  • The is a risk of development of aggressive
    cutaneous squamous cell carcinoma

Poikiloderma congenitale
  • AKA Thomsons disease and Rothmund-Thomson
  • Autosomal recessive, rare
  • Occurs predominantly in girls
  • Begins at 3 to 6 months of age with tense, pink,
    edematous patches on the cheeks, hands, feet, and

Poikiloderma congenitale
  • Short stature, small hands, absence or sparseness
    of eyebrows and eyelashes, alopecia of the scalp,
    and congenital bone defects are frequently
  • Sensitivity to sunlight
  • SCC and BCC of the skin occasionally occur, and
    osteosarcoma of bone has been reported
  • Patients have abnormal DNA helicase activity, as
    do patients with Werner and Bloom syndromes

Leg ulcers
  • Normal wound repair consists of three
    phases-inflammation, proliferation, and
    remodeling-that occur in a predictable sequence
  • Abnormalities in any one of these components can
    produce delayed or ineffectual wound healing

Venous diseases of the extremities
Stasis dermatitis
  • AKA dermatitis hemostatica and erythromelia
  • A blotchy red mottling and a yellowish or light
    brown pigmentation of the lower 1/3 of the lower
    legs due to venous insufficiency
  • Frequent finding in the elderly
  • Often associated with obesity and other disease

Stasis dermatitis
  • Approach to mgmt should be twofold
  • Relief of symptoms
  • Treatment of the underlying cause

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Venous ulcer
  • AKA varicose ulcer, stasis ulcer
  • Chronic venous insufficiency in the deep veins of
    the legs leads to shunting the venous return into
    the superficial veins, in which pressure, oxygen
    content, and flow rate are increased which result
    in dermatitis
  • Edema and fibrosis develop and ulceration with
    minor trauma
  • Varicose veins are usually present

Venous ulcer
  • Cause of varicose veins is multifactorial with
    inherited tendency
  • Prolonged standing promotes the development
  • Prolonged intraabdominal pressure contributes
  • Venous ulcers usually occur on the lower medial
    aspect of the leg
  • Usually there is a preceding stasis dermatitis
    with lipodermatosclerosis

Venous ulcer
  • In most cases the diagnosis of venous ulceration
    can be made on clinical grounds
  • Biopsy may be necessary to exclude neoplasm

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Venous ulcer treatment
  • Primarily to improve venous return
  • Elevation of leg above heart
  • Elastic support and exercise to improve calf
    muscle strength are recommended
  • Avoidance of long cramped sitting, or prolonged
    standing is advisable
  • Avoidance of trauma
  • Compression therapy is the mainstay of tx

Venous ulcer
  • Occlusive permeable biosynthetic wound dressing
    have been shown very effective
  • Cultured epidermal allografts
  • Various skin substitutes
  • In the acute setting, graded compression with
    Unna boots and graded elastic bandages
  • Metronidazole
  • Culture and chronic oral antibiotics may be

Venous ulcer
  • Risk factors that predict failure to heal within
    24 weeks of limb-compression therapy include a
    large wound area, history of venous ligation or
    stripping, history of hip or knee replacement,
    ankle brachial index of less than 0.80, fibrin on
    50 or more of the wounds surface, and the
    presence of the ulcer for an extended time

Venous ulcer
  • Aspirin
  • Oral zinc sulfate
  • Stanazol
  • grafting

Ischemic ulcer
  • Mostly located on the lateral surface of the
    ankle or digits
  • Initial red, painful plaques breaks down into
    painful superficial ulcer with a surrounding zone
    of purpuric erythema
  • Patients at risk are those e with long standing
    hypertension or other signs and risk factors of
    arteiosclerotic disease

Ischemic ulcer
  • Thinning of the skin, absence of the hair,
    decreased or absent pulses, pallor on elevation
    ,coolness of the extremity, dependent rubor,
    claudication on exercise, and pain on elevation
    relieved on dependency
  • Diagnosis can be confirmed by exam and careful
    pulses in the legs

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Ischemic ulcer
  • If ABI is less than 0.75 arterial insufficiency
    exists, less than 0.5 substantial insuff.
  • Topical abx, protection from injury, avoidance or
    cold, smoking and tight socks
  • Consult vascular surgeon
  • Prevent infection
  • Hyberbaric oxygen

Leg ulcers of other causes
  • Diabetic microangiopathy
  • Hepatopoietic ulcers with sickle cell anemia
  • Maximally treat underlying disease
  • Leg ulcers from collagen vascular disease
  • SCC, BCC, MM, Kaposis sarcoma and malignant
  • Infectious ulcers

  • Swelling of soft tissues in which an excess
    amount of lymph has accumulated
  • Chronic lymphedema is characterized by
    long-standing nonpitting edema

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  • Primary lymphedema
  • Congenital lymphedema (Milroys disease)
  • Lymphedema praecox
  • Lymphedema tarda
  • Syndromes assoc with primary lymphedema
  • Yellow nail syndrome
  • Turners syndrome
  • Noonans syndrome
  • Pes cavus
  • Phakomatosis pigmentovascularis

  • Cutaneous disorders sometimes assoc with primary
  • Yellow nails
  • Capillary hemangiomas
  • Xanthomatosis and chylous lymphedema
  • Congenital absence of nails

  • Secondary lymphedema
  • Postmastectomy lymphedema
  • Melphalan lymphedema
  • Melphalan isolated limb perfusion
  • Malignant occlusion with obstruction
  • Extrinsic pressure
  • Factitial lymphedema
  • Postradiation therapy
  • Following recurrent lymphangitis/cellulitis
  • Lymphedema of upper limb in recurrent eczema
  • Granulomatous disease
  • Rosaceous lymphedema
  • Primary amyloidosis

  • Most prevalent worldwide cause is filariasis
  • In US most common cause is postsurgical

Lymphedema praecox
  • Develops in females between 9 and 25
  • Puffiness appears around the ankles and then
    extends upwards
  • Leg becomes painful, with a dull, heavy sensation
  • Primary lymphedema is caused by a defect in the
    lymphatic system

Lymphedema praecox
  • Lymphangiography demonstrates
  • Hypoplastic lymphatics in 87
  • Aplasia in 5
  • And hyperplasia with varicose dilation in 8
  • Lymphedema distichiasis syndrome

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Nonne-Milroy-Meige Syndrome (hereditary
  • Characterized by unilateral or bilateral
    lymphedema present at birth and inherited as an
    autosomal dominant trait
  • Edema in painless and pits on pressure
  • Persists throughout life
  • Not assoc with any other disorder
  • Most frequently is unilateral

Nonne-Milroy-Meige Syndrome (hereditary
  • If long-standing a verrucous appearance to the
    affected extremity develops
  • Treatment is difficult
  • Pratt procedure
  • Kondoleon operation

Primary lymphedema associated with yellow nails
and pleural effusion (Yellow Nail Syndrome)
  • Primary lymphedema is confined mostly to the
    ankles, although other areas my be involved
  • Nails show a distinct yellowish discoloration and
  • Recurrent pleural effusion requiring
    thoracocentesis may by a feature

Phakomatosis pigmentovascularis
  • Bielsa et al reported a pt with a generalized
    nevus spilus assoc. with a nevus anemicus and
    primary lymphedema
  • Believed findings are not coincidental

Secondary lymphedema
  • In some malignant diseases involvement of the
    lymph nodes will produce blockage and lymphedema
  • Frequently seen after mastectomy and the removal
    of axillary nodes

Secondary lymphedema
Postmastectomy lymphangiosarcoma (Stewart-Treves
  • This type may arise in chronic postmastectomy
  • Lesions are bluish or reddish nodules arising on
    the arms
  • Numerous localized lesions of lymphangiosarcoma
    may occur
  • Pulmonary metastasis is frequent
  • Prognosis is extremely poor

Isolated limb perfusion
  • Melphalan when used for treatment of malignancies
    with isolated limb perfusion has been reported to
    result in an increased chance of developing
    regional toxicity and lymphedema

Inflammatory lymphedema
  • The inflammatory reaction is caused by recurrent
    bouts of acute cellulitis and lymphangitis
  • Chills, fever, and swelling and redness of the
    involved extremity are severe and may last for as
    long as 3 to 4 days
  • Recurrent attacks of streptococcal infections
    increases the likelihood of lymphedema

Factitial lymphedema
  • AKA hysterical edema
  • Lymphedema can be produced by wrapping an elastic
    bandage, cord, or shirt around an extremity
    and/or holding the extremity in a dependent and
    immobile state
  • Self-inflicted causes are usually difficult to

Factitial lymphedema
  • When cause by blunt trauma to the hand or forearm
    it is referred to as Secretans syndrome and l
    oedeme bleu
  • Effective care requires psychiatric intervention

lymphedema evaluation
  • Diagnosis is usually base on a classic
  • In the early stages of the disease, may require
    further investigation

  • Most cases are treated conservatively
  • Compression therapy, physical therapy, pneumatic
    pumps, and compressive garments
  • Volume reducing surgery and lymphatic
    microsurgery are rarely performed
  • Best to refer to a center versed in the treatment
    of these complicated conditions

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