Vascular Flashcards

Question

Subtypes of KS

Answer 1

- Classic - M>F, 40-60s, Mediterranean and Ashkenazi Jews - Clinically: pink macules and papules to unilateral limb that spreads bilaterally, coalesce to form nodules and polypoid tumours - African endemic - M>F in adults, however subtype in children - 4 sub-types: - Classic - as per classic - Fulminant? - Infiltrative - erodes down to S/C fat, mm and bone - Lymphadenopathic: in children and fatal - HIV - CD4 count <500 - Generalised, widespread - Iatrogenic immunosuppressed - M>F, transplant patients

Answer 2

- All look the same regardless of sub-type - Patch: - Pauci-inflammatory - Slit like vessel network?? - Nodule - Sieve-like pattern of vascular spaces - Mitotic figures and pleomorphism - Degenerated erythrocytes - Special stain: LANA-1

Answer 3

- If solitary and classic - monitor, nothing - Topicals: - Steroids - IL-steroids - IL-chemo - Cryotherapy - Radiation - Systemic (if severe) - Chemotherapy - taxanes - Interferon

Answer 4

- Vascular tumours - Benign - Locally aggressive/borderline - Malignant - Vascular malformations - Simple - capillary, lymphatic, venous, AV malformation, AV fistula - Combined - CVM, CLM, LVM, CLVM, CAVM, CLAVM - Of Major named vessels - Associated with other anomalies

Answer 5

CMs, then VMs

Answer 6

- Embryology: - Vasculogenesis - primitive vascular plexus - Then angiogenesis: secondary sprouting of mesoderm-derived endothelial cells, forms new vessels from existing ones. Generates blood and lymphatic vessels - Endothelial differentiation: recruits smooth muscle cell precursors to ensheathe endothelial cells and build vessel walls - Change in channel size - Somatic mutations --> found often in lesional tissue, but not elsewhere - Germline mutations --> more systemic

Answer 7

- Represents remains of the foetal circulation - Pink-red macules and patches in a 'V' shape (angel kiss), become more prominent with crying, can have preferential eczema - Locations: eyelids, philtrum, occiput, nape ('stork bite') and lumbosacral - If persistent midfacial naevus, associated with Beckwith-Wiedemann (overgrowth syndrome) and megalencephaly-CM - Fades spontaneously between 1-3 years of age, extra-facial more persistent

Answer 8

Beckwith-Wiedemann (overgrowth syndrome) | Megalencaphaly -CM

Answer 9

- GNAQ somatic activating mutation --> in affected skin and regional extra-cutaneous tissue - A mutation in this stimulates MAPK signalling, resulting in increased cell proliferation and decreased apoptosis

Answer 10

- well-demarcated bright/deep red macules and patches - Distribution of facial PWS thought to reflect the prominences that form during embryonic craniofacial development and their associated vascular. Divided into branches of trigeminal nerve - V1, V2 and V3. - Over time thicken, nodular, may develop superimposed pyogenic granulomas - Extra-cutaneous: overgrowth of soft tissues and facial bones can occur, so get open bite, gums, lips enlargening --> gingival bleeding, macrocheilia, lip incompetence

Answer 11

``` PWS Naevus roseus Reticulated CM - Distribution: - Localised - Segmental - Multi-focal - widespread ```

Answer 12

Again, GNAQ somatic activating mutation - mosaic

Answer 13

line from outer canthus to top of ear. | S1 and bilateral higher risk of issues

Answer 14

- Ocular: enlarged venous vessels affecting the conjunctiva, retina, episclera, choroid. Glaucoma in 30-60% of patients - Neurologic: hypoperfusion of ipsilateral brain due to CVM within the pia mater, can have absence of superficial cortical veins and dilated deep draining veins. Seizures in first 2 years of life, may also have stroke-like episodes, developmental delay, emotional and behavioural problems, ADD, migraines - Endocrine: central hypothyroidism and growth hormone deficiency

Answer 15

- You must investigate any child with a facial PWS involving the forehead: - MRI with gadolinium contrast or MR susceptibility weighted image - Wait until >1 year of age as before that can be insensitive - FLAIR or MRV may improve detection of leptomeningeal disease

Answer 16

mosaicism for mutations that result in activation of the PI3K/AKT pathway have been found to underly many of these conditions

Answer 17

- GNA11 in some patients - presents at birth, not progressive - Clinically: - digits: syndactyly, sandal-gap, macrodactyly - CM: reticulated, confluent areas, widespread and block-like - Venous: variable prominent veins - Normocephalic

Answer 18

- Gene: mosaic PIK3CA - Present at birth, progressive - Clinically: - Digits - syndactyly - Macrocephaly: hemimegalencephaly, dolichocephaly - CM: reticulated, widespread, block-like, persistent naevus simplex - Venous: variable prominent veins - Other: hyperelastic, soft, doughy skin - Tumours: rarely Wilms tumour - MRI: cerebellar tonsillar ectopia + herniation, polymicrogyria, cerebral asymmetry

Answer 19

PIK3CA mosaic

Answer 20

- Defined by triad of: - 1. PWS - 2. Vascular malformation - 3. Progressive overgrowth of affected extremity - Present at birth, progressive, correlates with sites of vascular malformation - Is either a CVM or CLVM - Clinically: - Geographic CM - well demarcated, dark red to purple stain with irregular borders, favours the lateral aspect of the thigh, usually associated with a lymphatic component. Can have superimposed purple papules or haemorrhagic vesicles. Associated with more complications - Other children might not have a geographic CM and might just be pink-red blotchy - Progressive limb growth: - Leg length discrepancy - Lymphoedema - Sometimes can affect the anogenital area, bladder, pelvis, retroperitoneum, and GIT - VM: can be associated with intravascular coagulopathy with high D dimer and low fibrinogen, risk of developing clots --> consider prophylactic anticoagulation particularly when have other risk factors

Answer 21

Congenital lipomatous overgrowth, vascular anomalies, epidermal naevi, scoliosis/skeletal abnormalities

Answer 22

- Is a possible CVLM - At birth, progressive, correlates with sites of vascular malformation - Clinically: - Digits: Broad hands/feet, macrodactyly, sandal gap - Macrocephaly: 30% - CM: geographic, well-demarcated, on trunk overlying lipomatous mass - VM: of superficial, deep thoracic and often major central veins - LM: truncal within lipomatous mass, overlying vesicles - AVM: variable spinal/paraspinal - Rarely: Wilms tumour - High risk of pulmonary embolism

Answer 23

AKT1, mosaic

Answer 24

- Not present at birth, but progressively develops at 6-18 months - Asymmetric, disproportionate overgrowth - CM: well demarcated, variable VM and LM - Cerebriform connective tissue naevi of palms and soles, epidermal naevi, lipomatous overgrowth, regional lipohypoplasia, regional absence of fat - Bullous pulmonary degeneration - Tumours: parotid monomorphic adenoma, ovarian cystadenoma - DVT results in premature death in up to 20% of patients

Answer 25

CM of the lower lip and LM of the tongue and neck, with Asymmetry and Partial Overgrowth of the face (CLAPO

Answer 26

- Dark purple-red purple, broad reticulated vascular pattern intermingled with telangiectasias - commonly affects one or more limbs with the corresponding trunk quadrants - To differentiate with physiologic: persists upon warming - Atrophic depression evident within net-like pattern, particularly over joints --> result in ulceration and scarring - lightens within first year of life - 50% --> hypoplasia (girth>length) + other vascular malformations - Can have skeletal, ocular and neurologic defects - Adams Oliver syndrome - CMTC or reticulated CM with distal transverse limb defects, cardiac malformations and scalp/skull defects - Occasionally neonatal lupus can have cutis marmorata like features

Answer 27

To differentiate with physiologic: persists upon warming

Answer 28

cutis marmorata or reticulated CM with distal transverse limb defects, cardiac malformations and scalp/skull defects

Answer 29

clusters of tiny punctate telangiectasias in serpiginous patterns

Answer 30

segmental configuration favouring the face, neck, chest and arms

Answer 31

Autosomal dominant --> heterozygous mutation in ENG, ACVRL1, SMAD4

Answer 32

- Clinically have AVMs and mucocutaneous telangeictasias - these have a propensity to bleed - First sign usually epistaxis in childhood - Telangiectasias appear after puberty, distributed to face, lips, tongue, palms, fingers including periungual areas and the nail bed - Need to screen for visceral AVMs - Pulmonary --> can embolise --> so need TTE, and if there can have embolotherapy - Intracranial --> can be lethal --> neeed brain MRI, and referral to neurovascular centre - Spinal --> acute paraplegia - GIT and genitourinary --> bleeds in adulthood and can present as iron deficiency anaemia --> so check Hb abd haematocrit - Hepatic --> high output failure, portal hypertension, biliary disease --> doppler USS

Answer 33

- Autosomal recessive disorder - 1 in 40 000 births - Mutation in ATM If have heterozygous carrier, at increased risk of breast cancer and haematologic malignancies

Answer 34

- Ataxia - onset in toddlers - Telangiectasiaes to conjunctivae, face, ears --> begin to appear at 4-6 years - Sinopulmonary infections --> immunoglobulin deficiencies and defective cell-mediated immunity - High risk of developing lymphoma and leukaemia - High levels of alpha foetal protein

Answer 35

- Ectasias of dermal vessels plus an acanthotic and hyperkeratotic overlying epidermis - Immunohistochemistry: positive for lymphatic markers - Dark red-purple, papular vascular anomalies

Answer 36

- Solitary papule angiokeratoma - often on lower extremity - Angiokeratomas of the scrotum and vulva - Angiokeratoma circumscriptum - clusters of ectasias that form a plaque or linear array, usually on extremity, present at birth. Ddx includes a verrucous haemangioma (venulocapillary malformation, usually deeper with thick walled blood vessels) which is caused by somatic MAP3K3 mutations - Angiokeratoma of Mibelli - favours the toes, fingers, knees - Angiokeratoma corporis diffusum - widespread lesions in a bathing trunk distribution. Associated with hereditary lysosomal storage disorders such as: - Fabry disease - X-linked recessive condition due to deficiency of alpha-galactosidase A - Alpha-fucosidase deficiency - Angiokeratomas can develop on the surface of geographic CMs in Klippel Trenauney as well

Answer 37

- Two major types: - Common and familial - 95% of these - blue hue, softness, compressibility and tendance to fill with dependency - usually focal or segmental - TEK and PIK3CA somatic activating mutations responsible sporadic ones - Glomuvenous malformations - Best imaging: T2-weighted MRI

Answer 38

- Affect skin, as well as possibly lips, oral mucosa, muscles, infratemporal fossa, and the orbit - Expand when the head is in the dependent position - Facial features become more distorted with time - If parapharyngeal and laryngeal VM - monitor for sleep apnoea due to sudden risk of death - 20% of those with extensive involvement have defects of the underlying skull - Extensive cephalic VM: have developmental venous anomalies, uncommon functional trajectories of venous drainage --> can have headaches, but do not hhave risk of cerebral haemorrhage and treatment isn't needed

Answer 39

- VMs form spongy masses of saggy ectatic venous channels --> these are easily emptied by elevating and massaging the affected region - permeation into muscles is common --> sign of this is pain after movement and in the morning. the pain is from thromboses in low-flow channels leading to phlebolith formation - Large VM --> can have elevated D-dimer - Joint invovlement usually occurs before 10 years of age --> complications such as effusion and haemarthrosis - Commonly misdiagnosed as Klippel Trenauney

Answer 40

- Misnomer --> distinctive venous malformation typically present in adults - middle-aged women with deep bluish nodules that favour breast and extremities - Histology: well-circumscribed lobules composed of densely packed, large, thin-walled blood filled venous channels

Answer 41

- Presents between birth and early adulthood - Painful intramuscular mass, most often on calf and in association with contracture - Histo: combination of fat, abnormal venous channels with perivascular fibrosis, lymphoplasmacytic aggregates with atrophied skeletal muscle - Treatment options: excision or image guided percutaneous cryoablation

Answer 42

- Autosomal dominant - heterozygous germline mutation in TEK --> results in hyperphosphorylation and constitutive activation of TIE-2 which is a vascular endothelium-specific tyrosine kinase receptor - VMs affect the skin, oral mucosa, and muscles - Some get visceral and cardiac malformations

Answer 43

- Sporadic disease --> double somatic activating TEK mutation - Widely distributed dark blue papules and nodules, and skin-coloured compressible protuberances - + larger VMs or LVMs affecting the subcutaneous tissues and muscles - GI bleeding common --> iron deficiency anaemia - Other sites of visceral involvement is uncommon

Answer 44

- Sporadic, heterozygous somatic mutations in IDH1 - Features VMs which present as blue to skin-coloured nodules + enchondromas - Commonly affects extremities - Histo: features of both VM and a vascular tumour - spindle cell haemangioma

Answer 45

- Variant of VM with rows of glomus cells around distorted venous channels - SMall solitary lesions, widely scattered blue-purple nodules, rarely larger plaques - May be evident at birth, especially larger plaques, or appear from childhood to adolescence that enlarge over time - Painful when palpated, partially compressible, hyperkeratotic with cobblestone-like appearance - occasionally mucosal invovlement with deep intra-oral lesions, and superficial invasion of muscles - 2/3 have fhx hx - Heterozygous mutation in GLMN gene (glomulin) which is passed from generation to generation in AD fashion, and then acquire somatic second hit in lesional skin

Answer 46

- AD disorder, mutations in KRIT1, CCM2 and PDCD10 (or CCM1, 2 and 3) - HCCVM only associated with KRIT1 --> these have irregularly shaped, dark crimson or reddish-purple plaques with surrounding bluish discoloration, on the extremities - Neurologic manifestations: mean age 30, headaches, seizures, cerebral haemorrhage

Answer 47

- F>M slightly - Mostly in adults, average age 34 years - Possibly associated with trauma

Answer 48

an unusual form of thrombus organisation

Answer 49

- Solitary, firm masses with red/blue discolouration of the overlying skin - Slow growth over months-years - Distribution: head, neck, fingers - 40% associated with underlying vascular lesions, 56% primary

Answer 50

- Can be limited to the confined of a thin-walled vein or can be multifocal, and within pre-existing vascular lesions - venous malformations, glomuvenous malformations, spindle cell haemangiomas, pyogenic granulomas (in more slow flow malformations - particularly venous) - Early: endothelial sprouts into fibrinous thrombus material, dividing into papillary fronds lined by a single layer of plump endothelial cells - No mitoses or cytologic atypia - Early fibrin cores of the papillae become collagenized and hyalinized with time - Lesional papillae may fuse to form an anastomosing meshwork of vessels separated by CT stroma --> mimics angiosarcoma

Answer 51

Angiosarcoma histologically

Answer 52

- surgical excision | - can get local recurrence when superimposed on a vascular malformation

Answer 53

1. Solitary or multiple angiokeratoma - small, warty black papules on the lower extremities - thought to be from chronic irritation of the wall of the venule in the papillary dermis 2. Angiokeratomas of the scrotum and vulva - 2nd-3rd decade, but more commonly in older age groups - red-purple, arise along superficial vessels - Can be associated with thrombophlebitis, varicoceles and inguinal hernias - Vulval associations: varicosities, haemorrhoids, oral contraceptive use, increased venous pressure during pregnancy 3. Angiokeratoma corporis diffusum - Multiple, clustered angiokeratomas in a bathing trunk distribution - Late childhood/adolescence - Fabry disease: X linked - deficiency of lysosomal enzyme alpha galactosidase A - There are other associated diseases with this.. 4. Angiokeratoma of Mibelli - 10-15 years, most commonly on the dorsal and lateral aspects of the fingers and toes - Associations: chillblains, acrocyanosis - Rarely ulcerations - Familial predisposition 5. Angiokeratoma circumscriptum - infancy or childhood - plaque or multiple discrete papules or nodules that become confluent - Trunk, arms, legs - unilateral - Females

Answer 54

- Marked dilatation of the papillary dermal vessels with an acanthotic, variably hyperkeratotic epidermis - Elongated rete ridges may partially or complettely enclose vescular channels - Collarette may be present - Fabry: vacuoles in endothelial cells and pericytes - Deposits of glycolipid stain positively with PAS and anti-GB3 antibody

Answer 55

- nothing - shave - laser - diathermy

Answer 56

Result from ectatic dilation of pre-existing vessels in the papillary dermis (except circumscriptum) Associated diseases with angiokeratoma corporis diffusum

Answer 57

- benign vascular tumour, stains positive for several markers of lymphatic differentiation - Negative for Wilms tumour 1 and has a low Ki-67 - Trauma may stimulate --> microshunts between small lesional blood vessels and adjacent lesional lymphatic vessels, resulting in erythrocytes within lymphatic vessels and haemosiderin deposits

Answer 58

- Targetoid - solitary, well-circumscribed red-blue to brown papules - Start 2-3 mm in diameter, and slowly increase in size - Think pale ring and ecchymotic halo --> ring may fade and disappear over time, then may recur - Sites: lower extremities, upper extremities, back, buttock/hip, chest wall

Answer 59

1. Dilated thin-walled vessels containing small numbers of red blood cells and lined by hobnail endothelial cells within the superficial dermis 2. Smaller slit-like vessels that dissect between collagen bundles in deeper portions of the dermis - may see extravasated red blood cells and haemosiderin deposits - Positive for VEGF-3 and podoplanin, negative for CD34

Answer 60

- Clinical: melanocytic naevus, sclerosing haemangioma, benign vascular neoplasms, EM, fixed drug eruption - Histologic: patch stage and lymphangioma variants of Kaposi, well differentiated angiosarcoma, retiform haemangioendothelioma, PILA and microcystic lymphatic malformation

Answer 61

simple excision

Answer 62

Missense mutation in MAP3K3 - not in all

Answer 63

- congenital and present as isolated, grouped or confluent red-purple papules - distal extremities - particularly the leg, trunk is rare - progressively darken and become hyperkeratotic during childhood - Cx: ulceration, bleeding, scarring - Do not regress - No anomaly associations

Answer 64

- superficial dermal dilated capillaries and venules (without a smooth muscle layer) within the papillary dermis - sparing of reticular dermis, then dilated blood vessels reappear in the subcutis --> occasionally have intraluminal thrombi - may have secondary orthohyperkeratotis and verrucous hyperplasia - Stains: CD31, CD34, and light focal immunoreactivity for GLUT1 (not intense like IH)

Answer 65

- surgical excisin | - Superficial component treatment with PDL, NdYag, carbon dioxide laser

Answer 66

- children and young adults - men slightly more than weomn - gingival lesions common during pregnancy

Answer 67

- Reactive neovascularisation: - Pre-existing injury or irritation - limited capacity for growth - propensity for multiple eruptions that may be localised or disseminated - Can occur within PWS and other vascular malformations --> suggestive of blood flow abnormality - Hormonal: pregnancy

Answer 68

- solitary red papule or polyp that grow radpily over weeks- months, then stabilises and rarely goes away on its own - 1/3 follow trauma - sites: gingiva, fingers, lips, face, tongue - friable, ulcerate, bleed with minor trauma - can have satellite lesions - rarely can be in subcutis, intravascular or disseminated - Other associations: systemic retinoids, indinavir, BRAF and EGFR inhibitors

Answer 69

- Basically: well circumscribed proliferation fo capillaries, has collarette from rete ridges, has fibrosis and stroma - well circumscribed, exophytic, pedunculated proliferation of small capillaries - Well-developed collarette from elongated rete ridges - Pale oedematous stroma (granulation like), collarette - lesion capillaries: lined by flattened endothelial cells, rimmed by pericytes and oedematous interstitial stroma containing fibroblasts - thick bands of dense fibrous tissue help define lobularity - may have scant infiltrate of lymphocytes, plasma cells and mast cells - foci of thrombosis and intravascular PEH may be present - early lesions often have ulceration and secondary inflammatory changes which has granulation tissue, fibrin deposition, loss of lobularity - intravascular and subcutaneous forms have features similar to superficial lesions - Late stage: increase intralobular and interlobular fibrosis + quiescent flattened capillary endothelia

Answer 70

- Can diagnose clinically - Ddx: amelanotic melanoma, bacillary angiomatosis, Kaposi sarcoma, glomus tumour, haemangioma, irritated melanocytic naevi, warts

Answer 71

- shave excision with electrosurgery - excision - PDL - effective and safe for small lesions in kids - Report of sclerotherapy

Answer 72

CD31, CD34, factor 8

Answer 73

- M=F | - appear during third decade of life or later, increase in number

Answer 74

- Hormonal: pregnancy - Associations: POEMS syndrome --> cherry angiomas and glomeruloid haemangiomas. Overproduction of proinflammatory cytokines - Polyneuropathy - Organomegaly - Endocrinopathy - Monoclonal gammopathy - Skin changes

Answer 75

- round to oval, bright red to purple, dome-shaped papules - may be polypoid in nature - trunk and proximal extremities - elderly can have 50-100 - rarely - segmental - asymptomatic, can bleed when traumatized

Answer 76

- Polypoid lesion with congested, ectatic vascular channels and scant stroma - loss of rete ridges and atrophy of dermis - may have collarette - loss of epidermal ridges centrally and peripherally adnexal epithelial collarettes - early: small lumina, plump endothelial cells - maturation: vessels dilate and endothelial cell cytoplasm flattens --> slightly hobnailed nuclei - vessel diameter decreases as you go deeper

Answer 77

- shave, electrodesiccation or laser ablation | - recurrence unusual

Answer 78

- many in first year of life, 50% by 5 years of age, can happen in young adults - 15% congenital - mostly sporadic

Answer 79

- has significant overlap with KHE, tufted angioma likely superficial form - association with Kasabach-Merritt phenomenon

Answer 80

- mottled red patches or plaques with superimposed angiomatous papules - typically neck, trunk or shoulders - grow slowly by lateral extension over a period of 5 months to 10 years - Occasionally: growth of lanugo hair or PWS like lesion - Kasabach-Merritt: platelet trapped, occurs in congenital cases (less commonly in KHE) - eventually stabilise in size, then then persist, shrink or leave fibrous tissue - rarely can spontaneously resolve - occasionally painful, and uncontrolled platelet trapping can be painful

Answer 81

- Cannonball appearance of cell tufts that compress vessels - multiple, separated cellular lobules - Lobules are tiny capillaries, may have fibrin microthrombi - intervening stroma separates lobules - semilunar vessel appearance - spindle shaped and polygonal cells - endothelial cells may be spindled, not so much in KHE - Stains: negative for GLUT1 and Lewis Y antigen (IH) - Ultrastructure: Weibel-Palade bodies - Kasabach: CD61 platelet trapping

Answer 82

- small--> surgical excision, recurrence is common - PDL ineffective - NdYag - jury is not out yet - interferon-alpha --> partial regression, but risk of spastic diplegia - If develop Kasabach: first line is vincristine + prednisone or sirolimus (rapamycin) - Aspirin to help control platelet interaction, pain and growth

Answer 83

- IH --> these will be GLUT1 positive and have more rapid growth - Pyogenic granuloma --> will be lymphatics negative, have more granulation tissue - Kaposi sarcoma --> lacks tufting, has plasma cells - vascular malformation - KHE --> more bulky, deeper

Answer 84

- Associated with POEMS syndrome - majority of patients with POEMS have an underlying plasma cell dyscrasia, however these haemangiomas occur more with multicentric Castleman disease Clinical - Angiomas in POEMS range from 25-45% - multiple, firm, dome-shaped red to purple papules or plaques - scattered - predominantly trunk and proximal extremities - very rarely can have solitary not associated with POEMS

Answer 85

- Increase pro-inflammatory cytokines - Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin lesions - Diagnosis: monoclonal plasmaproliferative disorder + sensorimotor polyneuropathy + 1 major and 1 minor criteria - Major: - sclerotic bone lesions - castleman disease - increased VEGF - Minor - Extravascular volume overload (effusions, etc) - Thrombocytosis or polycythemia - Papilloedema - Organomegaly or lymphadenopathy - Endocrinopathy - Skin changes - Diffuse hyperpigmentation, induration, hypertrichosis, hyperhidrosis - Less common: clubbing, livedo reticularis, acrocyanosis, flushing, acquired facial lipoatrophy, leukonychia - Vascular lesions: - cherry haemangiomas - glomeruloid haemangiomas - reactive angioendotheliomatosis, intravascular papillary endothelial hyperplasia, lobular capillary haemangiomas, microvenular haemangiomas

Answer 86

- Reactive lesions - due to increased VEGF in POEMS - multicentric castleman disease in POEMS - has HHV8 --> produces IL-6 --> VEGF

Answer 87

- most lesions in POEMS are similar to common cherry angiomas - numerous dilated dermal capillaries lined by flattened endothelial cells - Dilated (sinusoidal) dermal vascular spaces with grape-like aggregates of small capillary vessels - Glomeruloid: dilated dermal vessels filled by small, well formed capillary loops that lead to structures reminiscent of renal glomeruli - Plump endothelial cells - PAS + eosinophilic granules - likely cherry angiomas and glomeruloid haemangiomas in the POEMS patient reflect different stages of the same process

Answer 88

- not required | - shave excision, cryotherapy, electrodessication, PDL

Answer 89

- young to middle aged adults | - hormone: pregnancy and OCP

Answer 90

- noted in POEMS | - hormone: pregnancy and OCP, not substantiated completely

Answer 91

- solitary, purple to red, slowly enlargening papules, plaques or small nodules on the trunk or extremities - prediliction for forearms - <2 cm in diameter - asymptomatic

Answer 92

- poorly circumscribed proliferations of small, relatively monomorphous branching capillaries and venules involving the full thickness of the reticular dermis - myxoid stroma - vascular lumina often collapsed - positive for endothelial markers and smooth muscle actin pericytes --> factor 8, CD34, CD31

Answer 93

- young to middle aged adults | - history of trauma sometimes

Answer 94

- benign vascular tumour - significant reactive component - mural damage or rupture of large intralesional vessels --> trauma or AV shunts may play a part - have been seen in association AV fistulas and malformations - rarely TEK/TIE2 associated

Answer 95

- papules or nodules that are tan, brown, pink or dull red in colour - head and neck - ears, forehead, scalp - can rarely occur elsewhere too - dermal in nature, some can be subcutaneous - 50% --> clustered - can be painful, pruritic, pulsatile or asymptomatic - Extracutaneous: lymphadenopathy and eosinophilia

Answer 96

- Well circumscribed, vaguely lobular proliferations of capillary sized vessels surrounding larger central blood vessels - perivascular inflammatory infiltrate with ++ lymphocytes and eosinophils, and less mast cells and plasma cells - ectatic lymphatic vessels - nodular lymphoid aggregates with or without germinal centres - fibrous, oedematous stroma stroma - larger vessels have thick walls with prominent myxoid degeneration - vessels lined by enlarged endothelial cells that protrude into the lumen --> scalloped or cobblestone appearance - inflam infiltrate into medium-large sized arteries with variable luminal occlusion, damage to elastic laminae and mural rupture is common - older lesions: more fibrosis

Answer 97

- surgical excision, 1/3 recur after excision, and intraoperative bleeding is a problem - lasers: CO2, PDL, copper vapor - sclerotherapy - beta blocker - we used this at liverpool?

Answer 98

- cutaneous lymphoid hyperplasia - lymphoma cutis - sarcoidosis - epithelioid haemangioendothelioma - epithelioid angiosarcoma - Kimura disease --> usually on posterior neck, histologically much larger lymphoid follicles - vascular metastatic tumours - Angiosarcoma --> lacks eosinophils, more cytologically atypical

Answer 99

- sporadic disorder, lesions usually apparent at birth - unsure if tumour or malformation - lesional endothelial cells coexpress CD34 and LYVE-1 - Cutaneous lesions - usually hundred - flat or indurated, red-brown to burgundy papules or plaques with pallor and occasionally scar like areas centrally - GIT: GIT bleeding, anaemia - Pulmonary: haemoptysis - Less commonly other organs - Thrombocytopaenia mild to moderate, fluctuates. Fibrinogen and PT/PTT are normal - Histo: thin-walled vessels are scattered throughout the dermis and subcutis, lined by a monolayer of slightly hobnailed endothelial cells that focally form papillary projections. Lumina are devoid of red blood cells. No mitotic figures - Stains: CD31, CD34, LYVE-1, negative for GLUT1 - Differentiate from blueberry muffin baby, and other disorders with multifocal vascular lesions: - multifocal IH (haemangiomatosis) - blue rubber bleb naevus syndrome - glomuvenous malformations - mafucci syndrome - however easy to differentiate due to clinical and histo - Rx: GI bleeding --> resection, may stop on its own. Steroids, sirolimus, interferon-alpha, thalidomide, bevacizumab

Answer 100

- middle aged women, relatively rare - need to differentiate from angiosarcoma as can occur in breast subcutaneous tissue - congenital developmental disorders that become evident later in life due to remodeling, thrombosis, recanalization and progressive vascular dilation - well demarcated, solitary, deep dermal or subcutaneous papulonodules that are freely mobile. if superficial then red, or bluish if deeper. commonly favour arms and torso and breast. don't metastasize - pathology: well defined lobules of dilated thin-walled veins with scant mural smooth muscle, 'emphysematous', sieve-like spaces. Minimal mitoses, organising thrombi common. No cytologic atypia. - Ddx: well differentiated angiosarcoma - Rx: surgical resection

Answer 101

- children and young adults | - occur in varicose veins and various vascular malformations --> Klippel-Trenaunay and Mafucci

Answer 102

- Benign vascualr tumour, however thought to represent a vascular malformation altered by thrombosis and irregular vascular collapse - Mafucci: somatic alterations in particular genes --> IDH1 and rarely IDH2 mutations in spindle cell haemangiomas, endochondromas. IDH1 encodes sodium dependant isocitrate dehydrogenases and mutations can lead to epigenetic modifications

Answer 103

- solitary, firm, red-blue nodule in the subcutaneous tissue and dermis of the distal upper or lower extremity, then slowly develop multifocally - rarely --> skeletal muscle involvement, occasionally tumours develop on the trunk, heda and neck or proximal limbs - Can be asymptomatic or painful

Answer 104

- haemorrhagic nodules within the dermis and subcutaneous tissue composed of two things: - 1. thin-walled cavernous spaces containing organizing thrombi - 2. more cellular areas containing spindle cells and occasional aggregates of vacuolated epithelioid cells - Spindle areas stain focally for actin, form slit-like vascular spaces and appear to consist of fibroblastic cells, pericytes and collapsed vessels - Stains for endothelial markers - cavernous vessels show foci of intravascular PEH and phleboliths

Answer 105

- simple surgical excision --> 60% recurrence | - IL and intra-arterial IL-2 --> no recurrence in 24 months. there was one case report

Answer 106

nodular Kaposi --> Kaposi lacks the cavernous vascular spaces and vacuolated epithelioid endothelial cells

Answer 107

- <2 years of age, some are congenital | - If bulks and congenital - likely to have Kasabach-Merritt phenomenon, as well as those deeply seated

Answer 108

- develops in associated with tufted angioma and KHE - Sustained thrombocytopaenia, sometimes with haemolytic anaemia and consumption of fibrinogen and coagulation factors - believed to be on spectrum with tufted angioma - CD34 positive --> partial lymphatic endothelial phenotype - There is a self-sustaining cycle of platelet trapping and tumour growth theory (worsening of those with KMP when given platelet transfusions)

Answer 109

- usually deep in nature - infiltrative vascular stains or plaques that can develop nodules - deeper soft tissue lesions appear as bulging, indurated masses - can present on a body cavity or as a retroperitoneal mass - rarely spreads along lymphatics, so is intermediate locally aggressive tumour - 2 most common causes of death: thrombocytopaenia and direct tumour infiltration - Investigations: MRI (enhances on T2 hyperintense, ill-defined margin that crosses tissue planes), FBC, coagulation studies, platelets, biopsy for histopath if safe to do so

Answer 110

- Nodules/fascicles of spindled endothelial cells lining slit like or crescent shaped vessels - Differs from Kaposi's sarcoma: - fascicles are shoter/narrower - Haemosiderin is present - No HHV-8 - Deeper tissue involvement - Stains: CD31, CD34, podoplanin (lymphatic endothelial), LYVE-1, VEGFR-3, Prox1

Answer 111

- Infantile haemangiomas --> GLUT1 positive - Tufted angioma --> believed to be milder version of KHE - Kaposi sarcoma --> rare in children outside of Africa

Answer 112

- if localised and superficial then can have WLE - If deeper soft tissues, the mediastinum or retroperitoneum are often large and unresectable - Medications: vincristine + prednisone or sirolimus

Answer 113

- congenital haemangiomas, characterised by primarily intrauterine growth with no postnatal growth - rapidly involute in first year of life - might note in intrauterine USS - Clinically: raised, violaceous mass with prominent radiating veins, hemispheric nodule and with coarse telangiectasias surrounded by a pale rim, or firm, pink to violaceous plaque that is often on the lower leg. May have violaceous papules on the surface, and superimposed milia or hypertrichosis noted - Complications: necrosis, ulceration, thrombocytopaenia, life-threatening haemorrhage that may show signs initially of focal crusting - When resolves: fibrofatty residua

Answer 114

- slight female predominance, most often on trunk and extremities - typically present at birth as well-circumscribed, pink to blue-violet plaque or nodule with overlying coarse telangiectasias surrounded by a pale or bluish rim and often draining veins - 'Patch' subtype - flat surface and minimal induration - Warm to palpation, may be painful - grow proportionately with the child, and don't involute spontaneously - diagnosed retrospectively when doesn't involute

Answer 115

- exist on a spectrum - sometimes can be PICH - partially involuting congenital haemangioma - Somatic activating mutation: GNAQ or GNA11 that alters the glutamine at codon 209, same mutations found in uveal melanomas and blue naei - USS: dense vascularity with a fast-flow component, have more heterogenous appearance than IH - Histologically: strikjing lobularity within densely fibrotic stroma, stromal haemosiderin deposits, focal thrombosis and sclerosis of capillary lobules, fewer mast cells, coexistence of proliferating vascular - They are GLUT1 and Lewis Y antigen negative - Most don't require treatment, and propanolol not really effective - Well defined NICH can have surgical excision

Vascular Flashcards

(141 cards)