147: Vascular Malformations Flashcards
1
Q
What are vascular malformations and how do they arise?
A
Vascular malformations are believed to arise due to errors in the development of blood vessels that occur during the 4th to 10th weeks of intrauterine life. They are mostly sporadic and can be very heterogeneous.
2
Q
What are the two major categories of vascular anomalies according to the classification system developed by Mulliken and Glowacki?
A
The two major categories are: 1. Vascular tumors (with cellular proliferation, hemangioma being the most common) 2. Vascular malformations (structural anomalies of blood vessels) that are further subdivided into arterial, capillary, lymphatic, or venous malformations (VMs).
3
Q
What is the prevalence of vascular malformations in the population?
A
Vascular malformations affect about 0.3% of the population, with most of these being capillary malformations (CMs).
4
Q
How do vascular malformations typically grow and what are their clinical features?
A
Vascular malformations grow proportionately with the patient and usually do not regress. They are well-demarcated, localized, and can affect any part of the body, including the viscera. In rare instances, they can indicate deeper lesions or be the first sign of a syndrome.
5
Q
What are the two types of flow classifications for vascular malformations?
A
Vascular malformations are classified into: - Slow flow: capillary, lymphatic, venous, and combined - Fast flow: arterial, arteriovenous, and combined.
6
Q
What is the typical approach to diagnosing vascular malformations?
A
The diagnosis of vascular malformations is usually based on clinical features in 90% of superficial malformations.
7
Q
What histological characteristics are associated with vascular malformations?
A
Histologically, vascular malformations consist of enlarged, tortuous vessels with quiescent endothelium. Unlike hemangiomas, they do not exhibit cellular proliferation.
8
Q
What are vascular malformations believed to arise from?
A
Errors in the development of vessels during the 4th to 10th weeks of intrauterine life.
9
Q
What percentage of the population is affected by vascular malformations?
A
About 0.3%.
10
Q
How are vascular malformations classified?
A
They are classified into vascular tumors and vascular malformations, which are further subdivided based on the affected vessel type.
11
Q
What is a key characteristic of vascular malformations in relation to growth?
A
They grow proportionately with the patient.
12
Q
What is the usual basis for diagnosing superficial vascular malformations?
A
The diagnosis is usually based on clinical features in 90% of cases.
13
Q
What types of flow are vascular malformations divided into?
A
They are divided into slow flow (capillary, lymphatic, venous, and combined) and fast flow (arterial, arteriovenous, and combined).
14
Q
What is the histological characteristic of vascular malformations?
A
They consist of enlarged, tortuous vessels with quiescent endothelium.
15
Q
What syndromes are associated with vascular malformations?
A
Syndromes such as Klippel-Trenaunay syndrome, Maffucci syndrome, CLOVES syndrome, and Parkes Weber syndrome.
16
Q
What is the significance of somatic genetic mutations in vascular malformations?
A
They have been unraveled as the cause of many common sporadic lesions.
17
Q
What are the main types of vascular anomalies classified under vascular malformations?
A
The main types of vascular anomalies classified under vascular malformations include: | Type | Subtype | |———————|——————————————| | Capillary | Capillary malformation (CM) | | | Capillary malformation-arteriovenous (CM-AVM) | | Venous | Venous malformation (VM) | | | Blue rubber bleb nevus (BRBN) | | | Multifocal venous malformation (MVM) | | Lymphatic | Lymphatic malformation (LM) | | Arteriovenous | Arteriovenous malformation (AVM) |
18
Q
What are the clinical characteristics of capillary malformations?
A
The clinical characteristics of capillary malformations include: | Characteristic | Description | |—————-|———————————-| | Skin color | Red | | Aspect | Flat to raised | | Temperature | Normal | | Palpation | Normal | | Associations | — | | Radiology | Dilated capillaries | | Histology | D2-40 negative | | Etiology | See Table 147-3 | | Treatment | Pulsed-dye laser |
19
Q
What are the genetic causes associated with capillary malformations?
A
The genetic causes associated with capillary malformations include: | Diagnosis | Mutated Gene | |———————————|—————| | Capillary malformations (CM) | GNAQ, GNA11 | | Sturge-Weber syndrome | GNAQ | | Rhabdomyosarcomatosis (PPV) | GNAQ or GNA11 | | Macroscopically-capillary malformation in CM | ARTS, PIK3R2 | | Venous malformations (VM) | TIE2 |
20
Q
What is a common type of capillary malformation mentioned in the table?
A
Sturge-Weber syndrome.
21
Q
What is the genetic cause associated with venous malformations according to the table?
A
GLMN gene mutation.
22
Q
What is the clinical characteristic of capillary malformations regarding skin color?
A
Red.
23
Q
What is the treatment option for venous malformations as per the clinical characteristics table?
A
Sclerotherapy, surgery, sirolimus medication.
24
Q
What is the histology characteristic of lymphatic malformations?
A
Cystic lymphatic channels D2-40 positive.
25
What is a syndromic malformation associated with slow flow?
Klippel-Trenaunay syndrome.
26
What is the aspect of skin associated with venous malformations?
Normal to yellowish-purple.
27
What is the clinical characteristic of arteriovenous malformations regarding skin color?
Normal to red.
28
What are the key clinical characteristics that differentiate capillary malformations from venous malformations?
| Characteristic | Capillary Malformations (CM) | Venous Malformations (VM) | |----------------|------------------------------|----------------------------| | Skin Color | Red | Normal-bluish-purple | | Aspect | Flat | Raised to vascular | | Temperature | Normal | Normal | | Palpation | Normal | Firm, noncompressible | | Associations | — | Phleboliths, deformation | | Flow | No flow | Slow flow | | Histology | Dilated capillaries | Thin-walled venous channels | | Etiology | See Table 147-3 | — |
29
How do the genetic causes of capillary malformations differ from those of venous malformations?
| Type of Malformation | Genetic Cause | Mutated Gene | |---------------------|---------------|--------------| | Capillary Malformations (CM) | Sturge-Weber syndrome | GNAQ | | | Rhabdomyosarcomatosis (PPV) | GNAQ or GNA11 | | | Macroscopically-capillary malformation (M-CM) | ARTS, PIK3CA | | Venous Malformations (VM) | Blue rubber bleb nevus (BRBN) | TEK | | | Multifocal venous malformation (MVM) | GLMN | | | Venous malformations (VM) | RAMP3 | | | Lymphatic malformations (LM) | MAP2K7 |
30
What are the treatment options for capillary malformations compared to arteriovenous malformations?
| Type of Malformation | Treatment Options | |---------------------|-------------------| | Capillary Malformations (CM) | Pulsed-dye laser | | Arteriovenous Malformations (AVM) | Embolization followed by surgical resection of nidus |
31
What is the primary characteristic of capillary malformations (CMs)?
Capillary malformations, commonly known as port-wine stains, are **slow-flow vascular malformations** that appear pinkish-red to purple in color and can darken and thicken over time.
32
What is the prevalence of capillary malformations (CMs)?
The prevalence of capillary malformations (CMs) is approximately **0.3%**.
33
What are the common locations for capillary malformations (CMs)?
Capillary malformations (CMs) are often located on the: 1. Nape of the neck (81%) 2. Eyelids (45%) 3. Glabella (33%)
34
What is the significance of genetic testing in vascular malformations?
Genetic testing is important because it can confirm or help make the precise diagnosis of vascular anomalies, especially when a germline or somatic genetic cause is known. For somatic mutations, a biopsy is needed, while a blood test suffices for inherited mutations.
35
What is Phakomatosis Pigmentovascularis (PPV) and its association with capillary malformations?
Phakomatosis Pigmentovascularis (PPV) is thought to be an **embryogenic anomaly** affecting the vasomotor nerves and melanocytes. It manifests as large, metameric capillary malformations (CMs) usually located on the trunk or extremities, often associated with pigmented cutaneous lesions.
36
What is the management approach for vascular malformations?
Management of vascular malformations depends on: 1. Affected vessel type 2. Location of the lesion 3. Age of the patient 4. Symptoms Complete cure is often not possible, and treatment can be difficult with severe complications.
37
What is the relationship between capillary malformations and spinal dysraphism?
In rare instances, capillary malformations (CMs) can be the **cutaneous hallmark** of occult spinal dysraphism, particularly if located in the lumbosacral area.
38
What is the primary method for diagnosing vascular anomalies noninvasively?
Doppler ultrasonography is used for noninvasive examination of vascular anomalies.
39
What is the significance of genetic testing in vascular anomalies?
Genetic testing can confirm or help make the precise diagnosis of vascular anomalies.
40
What are capillary malformations commonly known as?
Capillary malformations are commonly called port-wine stains.
41
What is the prevalence of capillary malformations?
The prevalence of capillary malformations is 0.3%.
42
What is a characteristic feature of capillary malformations?
Capillary malformations are slow-flow vascular malformations.
43
What is the inheritance pattern of capillary malformations?
Capillary malformations mainly occur sporadically, although some show autosomal dominant inheritance.
44
What is the clinical significance of true capillary malformations?
True capillary malformations persist lifelong.
45
What is Phakomatosis Pigmentovascularis thought to be?
Phakomatosis Pigmentovascularis is thought to be an embryogenic anomaly affecting the vasomotor nerves and melanocytes.
46
What is Sturge-Weber syndrome associated with?
Sturge-Weber syndrome is associated with capillary malformations and neurological symptoms.
47
What is a common confusion with capillary malformations?
Other blanchable pink patches like stork bite and angel's kiss are often confused with capillary malformations.
48
What are the key management considerations for treating vascular malformations?
- Treatment depends on the affected vessel type, lesion location, patient age, and symptoms. - Complete cure is often not possible, and recurrence may occur. - Treatment can be challenging and may lead to severe complications.
49
How do capillary malformations typically present and what is their prevalence?
- Capillary malformations, commonly known as port-wine stains, are slow-flow vascular malformations. - They mainly occur sporadically, with a prevalence of **0.3%**. - There is no sex preponderance, and they can be isolated findings or part of the capillary malformation-arteriovenous malformation (CM-AVM) phenotype.
50
What is Phakomatosis Pigmentovascularis and how does it manifest?
- Phakomatosis Pigmentovascularis (PPV) is thought to be an embryogenic anomaly affecting vasomotor nerves and melanocytes. - It manifests as large, metameric capillary malformations, usually located on the trunk or extremities, associated with pigmented cutaneous lesions such as pigmented nevi, nevus spilus, or café-au-lait patches.
51
What are the characteristics of Sturge-Weber Syndrome in relation to vascular malformations?
- Sturge-Weber Syndrome is characterized by the presence of capillary malformations, particularly on the face, and neurological abnormalities. - It is associated with leptomeningeal angiomatosis, which can lead to seizures and developmental delays.
52
What is the relationship between capillary malformations (CM) and Sturge-Weber syndrome (SWS)?
When located in the frontopalpebral area, CM can be part of SWS, which associates a cutaneous CM of the ophthalmic branch of the trigeminal nerve (V1) with a homolateral leptomeningeal capillary-venous malformation (CVM) and a choroid CVM. SWS is associated with a high risk of epilepsy and mental retardation due to anomalies of the venous drainage of the encephalon, as well as with glaucoma, buphthalmos, and sometimes retinal detachment.
53
What are the characteristics of diffuse capillary malformation with overgrowth (DCMO)?
Patients with DCMO have hemihypertrophy, which can be total, regional, or contralateral. CM can be diffuse over the entire body and is characterized by a reticulated, ill-defined CM. The lesions do not follow the lines of Blaschko.
54
What are the cutaneous findings associated with capillary malformations (CM)?
CM is a red, homogenous, congenital lesion that is unilateral, sometimes bilateral, but usually not median. CMs involve skin and subcutis and sometimes mucosa. Their color varies from pinkish-red to deep purple with a geographic contour or a dermatomal distribution.
55
What are the cutaneous findings associated with capillary malformations (CM)?
CM is a red, homogenous, congenital lesion that is unilateral, sometimes bilateral, but usually not median. CMs involve skin and subcutis and can vary in color from pinkish-red to deep purple.
56
What are the noncutaneous findings associated with capillary malformations?
Noncutaneous findings include systemic, visceral (hypoplasia of the larynx, intestinal polyposis), muscular (scoliosis), or neurologic (mental retardation, epilepsy) signs and symptoms in 60% of cases.
57
What are the complications associated with capillary malformations?
The major concern for a patient with a CM is cosmetic due to visible discoloration. Complications can include worsening of lesions in areas affected by atopic dermatitis, psoriasis, or acne (Meyerson phenomenon), evenly thickened skin, purple nodules, and pyogenic granulomas developing by adolescence.
58
What genetic mutations are associated with facial capillary malformations?
Somatic activating mutations in GNAQ have been identified as the cause of facial CM with hypertrophy as well as of Sturge-Weber syndrome (SWS). The inherited CM-AVM1 is caused by inactivating mutations in RASA1.
59
What is the relationship between capillary malformations (CM) and Sturge-Weber syndrome (SWS)?
When located in the frontopalpebral area, CM can be part of SWS, which associates a cutaneous CM of the ophthalmic branch of the trigeminal nerve with a homolateral leptomeningeal capillary-venous malformation and a choroid CVM.
60
What are the characteristics of diffuse capillary malformation with overgrowth (DCMO)?
Patients with DCMO have hemihypertrophy, which can be total, regional, or contralateral, and CM can be diffuse over the entire body, characterized by a reticulated, ill-defined CM.
61
What is a common feature of macrocephaly-capillary malformation (M-CM)?
A well-delineated, dark CM of the vermillion border or the tip of the nose associated with macrocephaly is often pathognomonic of M-CM.
62
What are the noncutaneous findings associated with Sturge-Weber syndrome (SWS)?
SWS is associated with a high risk of epilepsy and mental retardation due to anomalies of the venous drainage of the encephalon, as well as with glaucoma, buphthalmos, and sometimes retinal detachment.
63
What is the significance of the Meyerson phenomenon in relation to capillary malformations?
The Meyerson phenomenon refers to the worsening of lesions in the area of CM when the child has atopic dermatitis, psoriasis, or acne.
64
What are the clinical implications of Sturge-Weber syndrome (SWS) in patients with capillary malformations (CM)?
SWS is associated with a high risk of epilepsy and mental retardation due to anomalies in the venous drainage of the encephalon. Patients may also experience glaucoma, buphthalmos, and sometimes retinal detachment.
65
How does diffuse capillary malformation with overgrowth (DCMO) present in patients?
Patients with DCMO exhibit hemihypertrophy, which can be total, regional, or contralateral. The capillary malformation can be diffuse over the entire body and is characterized by a reticulated, ill-defined CM.
66
What are the distinguishing features of macrocephaly-capillary malformation (M-CM)?
M-CM is characterized by a well-delineated, dark CM of the vermillion border or the tip of the nose, often associated with macrocephaly.
67
What are the potential complications of capillary malformations in children?
Complications include cosmetic concerns due to visible discoloration, worsening of lesions in areas affected by atopic dermatitis, psoriasis, or acne (known as the Meyerson phenomenon), and the development of thickened skin, purple nodules, and pyogenic granulomas by adolescence.
68
What genetic mutations are associated with facial capillary malformations and Sturge-Weber syndrome?
Facial capillary malformations are thought to be caused by clonal expansion of abnormal cells from the neural crest. Somatic activating mutations in GNAQ have been identified as a cause of facial CM with hypertrophy and SWS.
69
What genetic mutations are associated with CM-AVM2 and how do they affect endothelial cells?
CM-AVM2 is caused by inactivating mutations in EPHB4, which is usually expressed in venous endothelial cells and its ligand EPHINB2 on arterial endothelial cells.
70
What are the key pathological features of capillary malformations (CM)?
Capillary malformations (CM) are characterized by dilated capillaries in the papillary and upper reticular dermis, areas of increased number of normal-looking capillaries, flat endothelial cells, and normal levels of Factor VIII, fibronectin, and basement membrane protein.
71
What imaging studies are recommended for patients with painful or bleeding capillary malformations?
For painful, warm, or spontaneously bleeding capillary malformations, Doppler ultrasound is indicated to exclude the diagnosis of fast flow malformations such as AVM, Parkes Weber syndrome, or proliferating hemangioma.
72
What is the significance of genetic testing in patients with multifocal lesions associated with CM?
Genetic testing is crucial for patients with multifocal lesions (CMAVM1 and 2) due to the increased risk for intracerebral fast-flow lesions.
73
What follow-up is necessary for patients with capillary malformations associated with systemic lesions?
Patients with capillary malformations associated with systemic lesions require ophthalmologic, neurologic, and orthopedic follow-up, with regular examinations during the first months of life and annually until puberty.
74
What causes CM-AVM2?
Inactivating mutations in EPHB4.
75
What is the characteristic pathology of capillary malformations (CM)?
Dilated capillaries of the papillary and upper reticular dermis with areas of increased normal-looking capillaries.
76
What imaging study is indicated if a CM is painful, warm, or spontaneously bleeds?
Doppler ultrasound.
77
What is the significance of EPHB4 in CM-AVM2?
EPHB4 regulates arteriovenous identity and interacts with RASA1 to regulate RASMAPK signaling.
78
What should be done during the first months of life for patients with CM?
Ophthalmologic and neurologic examinations are mandatory.
79
What is the recommended follow-up for patients with extensive CMs of the lower extremity?
A scaniometry study is needed to evaluate possible progressive growth discrepancy.
80
What genetic testing is indicated for patients with multifocal lesions in CM?
Screening for RASA1 and EPHB4 mutations.
81
What is the clinical significance of identifying a germline mutation in patients with CM?
It enables precise counseling and surveillance.
82
What should patients with pale, uncharacteristic CMs be screened for?
PTEN mutations due to increased cancer risk.
83
What is the role of MRI in the diagnosis of CM?
MRI is indicated for evaluating associated conditions like leptomeningeal CVM and spinal cord involvement.
84
What diagnostic steps are mandatory for a child with a capillary malformation (CM) on the frontopalpebral area suspected of having Sturge-Weber Syndrome (SWS)?
Ophthalmologic and neurologic examinations are mandatory, along with a brain MRI to evaluate for associated leptomeningeal capillary-venous malformations.
85
What are the genetic mutations associated with CM-AVM2 and their role in vascular malformations?
CM-AVM2 is caused by inactivating mutations in EPHB4, which regulates arteriovenous identity and interacts with RASA1 to regulate RASMAPK signaling.
86
What imaging studies are recommended for patients with capillary malformations (CM) and why?
Imaging studies for CM are generally not mandatory except in rare situations. If a CM is painful, warm, or spontaneously bleeds, a Doppler ultrasound is indicated to exclude fast flow malformations.
87
What are the clinical implications of identifying a germline mutation in patients with capillary malformations?
Identifying a germline mutation in patients with capillary malformations allows for precise counseling and surveillance.
88
How does the presence of CM in the frontopalpebral area affect clinical management?
When CM is located in the frontopalpebral area, especially if the inner part of the upper eyelid is involved, it can be associated with Sturge-Weber syndrome (SWS).
89
What is the significance of S100 staining in the pathology of capillary malformations?
In the pathology of capillary malformations, S100 staining shows abnormal innervation.
90
What is the clinical course and prognosis of capillary malformations (CM)?
CM is present at birth and does not regress spontaneously. It may slightly fade during the first weeks of life as hemoglobin levels decrease, and the lesion grows in proportion.
91
What are the recommended interventions for managing capillary malformations (CM)?
1. Orthopedic Considerations: Use an adapted shoe lift for leg-length discrepancies over 1.5 cm. 2. Procedures: Laser treatment is the gold standard for most CMs. 3. Counseling: Genetic and psychological counseling for patients and families is recommended.
92
What are the characteristics and epidemiology of venous malformations (VMs)?
VMs are congenital lesions made of venous-type vessels that can affect various structures and organs, with 50% located in the cervicofacial area.
93
What preventive measures are recommended for patients with Sturge-Weber syndrome (SWS)?
Ophthalmologic follow-up should start immediately after birth. Prophylactic antiepileptic medication is recommended to prevent neural cell death.
94
What is the gold standard therapy for most capillary malformations?
Laser treatment is the gold standard therapy for most CM.
95
What are the common characteristics of venous malformations (VMs)?
VMs are congenital lesions made up of venous-type vessels that can involve any structure and organ.
96
What is a capillary malformation (CM)?
CM is present at birth and never regresses spontaneously, can slightly fade during the first weeks of life, stabilizes, and grows in proportion, thickening and darkening over time.
97
What are the common characteristics of venous malformations (VMs)?
VMs are congenital lesions made up of venous-type vessels that can involve any structure and organ, with 50% located in the cervicofacial area and 37% on the extremities.
98
What is the overall incidence of venous malformations in the population?
The overall incidence is 1 in 10,000 in the population.
99
What are the inherited forms of venous malformations?
1% are inherited mucocutaneous venous malformations (VMCMs) and 5% are inherited glomuvenous malformations (GVMs).
100
What is the recommended follow-up for patients with Sturge-Weber syndrome (SWS)?
Ophthalmologic follow-up should be started immediately after birth.
101
What is the significance of early treatment for capillary malformations?
Early treatment during childhood does not reduce the number of laser sessions needed.
102
What is the age-dependant variation in penetrance for VMCM and GVM?
VMCM reaches its maximum penetrance by 20 years of age (87%) and GVM by 20 years (92.7%).
103
What complications can arise from capillary malformations?
Complications include pyogenic granuloma and lip hypertrophy.
104
What is the role of genetic counseling in the management of vascular malformations?
Genetic and psychological counseling is important for the patients and their families.
105
What are the clinical characteristics and progression of capillary malformations (CM)?
- CM is present at birth and does not regress spontaneously.
- Initially, it may fade slightly during the first weeks of life as hemoglobin levels decrease.
- The red hue stabilizes, and the lesion grows proportionally.
- Around puberty, CM thickens and darkens, often becoming raised and nodular.
- Pyogenic granuloma and soft tissue or bony hypertrophy can occur over time.
106
What is the gold standard treatment for capillary malformations and what are the considerations for its application?
- **Laser treatment** is the gold standard therapy for most capillary malformations (CM).
- A **pulsed-dye laser** with a specific wavelength (585 or 595 nm) is most effective.
- Multiple sessions (6-12) are required, and general anesthesia may be necessary due to pain.
- Treatment is more efficient on the cervicofacial and trunk areas than on extremities.
- Early treatment does not reduce the number of sessions needed, and recurrence can occur after therapy cessation.
107
What are the epidemiological characteristics of venous malformations (VMs)?
- Venous anomalies are the most common type of VMs, with an overall incidence of 1 in 10,000 in the population.
- They mainly occur sporadically, with 1% being inherited mucocutaneous venous malformations (VMCMs) and 5% being inherited glomuvenous malformations (GVMs).
- There is no sex preponderance, and both VMCM and GVM show age-dependent variation in penetrance, peaking by 20 years of age (87% for VMCM and 92.7% for GVM).
108
What preventive measures are recommended for patients with Sturge-Weber syndrome (SWS)?
- In patients with SWS, **ophthalmologic follow-up** should be initiated immediately after birth.
- **Prophylactic antiepileptic medication** is recommended to prevent neural cell death.
109
What are the key characteristics of Blue Rubber Bleb Nevus Syndrome?
- Numerous malformations of the venous system involving skin and viscera.
- Typically characterized by one large 'dominant' VM lesion associated with multiple small, dark blue, nipple-like lesions, usually located on the palms and soles.
- Associated with multiple small GI VMs, often responsible for chronic anemia.
110
What defines Maffucci Syndrome and its clinical features?
- A rare disorder characterized by multiple enchondromas associated with subcutaneous VMs of the distal extremities.
- Disease onset occurs during childhood with the development of enchondromas in the bones of hands and feet, as well as long bones.
- Deformities and shortening of extremities may occur, with subcutaneous vascular nodules appearing later, around puberty, on fingers and toes.
111
What are the cutaneous findings associated with venous malformations (VMs)?
- VMs are usually solitary but can be multifocal, suggesting an inheritable disorder.
- They can affect any tissue or organ and are often congenital, presenting as light to dark bluish lesions.
- Size varies from small spongy blebs to large lesions of several centimeters in diameter.
- Skin temperature is normal, and VMs can be emptied by compression unless thrombosis occurs.
112
How do generalized venous malformations (GVM) differ from other venous malformations?
- GVM is characterized by bluish to purple, raised lesions with multifocality, hyperkeratosis, and a cobblestone surface.
- In rare cases, lesions may be flat and purple in color, present at birth, and expand during childhood.
- GVM is often painful on palpation and cannot be completely emptied by compression, unlike other VMs.
113
What characterizes Blue Rubber Bleb Nevus Syndrome?
Numerous malformations of the venous system involving the skin and viscera, typically one large 'dominant' VM lesion associated with multiple small, dark blue, nipple-like lesions on the palm and soles.
114
What is Maffucci Syndrome?
A rare disorder characterized by multiple enchondromas associated with subcutaneous VMs of the distal extremities, starting in childhood.
115
What are common cutaneous findings in venous malformations?
They can be solitary or multifocal, usually congenital, and vary in size from small spongy blebs to large lesions.
116
How do venous malformations typically present in terms of skin temperature and sensation?
Skin temperature is normal, and there is no thrill or bruit; palpation is not painful unless thrombosis occurs.
117
What is the typical location for venous malformations?
The most common location is the head and neck area.
118
What distinguishes GVM from other venous malformations?
GVM is characterized by multifocality, hyperkeratosis, and nodularity with a cobblestone surface, and is often painful on palpation.
119
What is the significance of the size of venous malformations in a dependent position?
VMs are larger when in a dependent position and can easily be emptied by compression or facilitating venous drainage.
120
What are the developmental characteristics of GVM?
GVM lesions are present at birth, slowly expand during childhood, and new small lesions appear over time.
121
What is the relationship between venous malformations and family history?
Some multifocal venous malformations (MVMs) are similar to VMCM lesions but occur without a family history.
122
What are the key characteristics of Blue Rubber Bleb Nevus Syndrome and its clinical implications?
- Characterized by numerous malformations of the venous system involving skin and viscera.
- Typically presents with one large 'dominant' venous malformation (VM) lesion and multiple small, dark blue, nipple-like lesions on palms and soles.
- Associated with multiple small gastrointestinal VMs, often leading to chronic anemia.
123
How does Maffucci Syndrome present and what are its clinical features?
- Maffucci syndrome is characterized by multiple enchondromas and subcutaneous VMs of the distal extremities.
- The disease begins in childhood with enchondromas developing in the bones of hands, feet, and long bones.
- Patients may experience deformities and shortening of extremities, with subcutaneous vascular nodules appearing later, particularly around puberty.
124
What are the cutaneous findings associated with venous malformations (VMs) and their clinical significance?
- VMs are usually solitary but can be multifocal, indicating an inheritable disorder.
- They can affect any tissue or organ, with the head and neck being the most common locations.
- Lesions vary in size from small blebs to large lesions, and skin temperature is typically normal.
- VMs can be emptied by compression, and palpation is usually not painful unless thrombosis occurs.
125
What distinguishes generalized venous malformations (GVM) from other types of venous malformations?
- GVM is characterized by bluish to purple, raised lesions with multifocality, hyperkeratosis, and a cobblestone surface.
- Unlike VMs, GVM lesions are often painful on palpation and cannot be completely emptied by compression.
- GVM lesions are multifocal, located on extremities, and are rarely found in mucosae, with no intestinal hemorrhage present.
126
What is the likely cause of acute pain in a patient with a large venous malformation (VM) in the extremity?
The acute pain is likely due to local thrombosis. Monitor for chronic localized intravascular coagulopathy (LIC), which can lead to elevated D-dimer levels and, in severe cases, disseminated intravascular coagulopathy.
127
What genetic mutation is associated with glomuvenous malformation (GVM)?
GVM is associated with dominant, loss-of-function mutations in the glomulin gene.
128
What is the likely connection between a venous malformation (VM) in the temporal muscle and migraines?
Migraines are a common feature when VM is located in the temporal muscle. Management may include pain relief and addressing the VM through sclerotherapy or surgical resection.
129
What are the potential complications of a venous malformation (VM) in the oropharyngeal region?
Complications include airway compromise and sleep apnea. Management may involve surgical resection or sclerotherapy to reduce the size of the VM.
130
What is the likely cause of dyspareunia in a patient with a venous malformation (VM) in the genital area?
Dyspareunia is caused by the VM in the genital area. Treatment options include sclerotherapy or surgical resection to alleviate symptoms.
131
What is the likely cause of leg-length discrepancy in a patient with a venous malformation (VM) in the extremity?
Leg-length discrepancy is caused by muscle weakness, hypotrophy, or hypertrophy associated with the VM. Management includes orthopedic interventions such as shoe lifts or epiphysiodesis.
132
What is the likely connection between intussusception and a venous malformation (VM) in the gastrointestinal tract?
Intussusception is caused by the VM acting as a lead point. Management includes surgical intervention to correct the intussusception and address the VM.
133
What is the likely cause of early-onset arthrosis in a patient with a venous malformation (VM) in the extremity?
Early-onset arthrosis is caused by intraarticular bleeding from the VM. Management includes addressing the VM through sclerotherapy or surgical resection and managing joint symptoms.
134
What is the likely connection between volvulus and a venous malformation (VM) in the gastrointestinal tract?
Volvulus is caused by the VM acting as a structural abnormality in the gastrointestinal tract. Management includes surgical intervention to correct the volvulus and address the VM.
135
What is the likely cause of pulmonary embolism in a patient with a venous malformation (VM) in the extremity?
Pulmonary embolism is caused by thrombi from the VM entering the venous circulation. Management includes anticoagulation therapy and addressing the VM through sclerotherapy or surgical resection.
136
What is the likely connection between bowel infarction and a venous malformation (VM) in the gastrointestinal tract?
Bowel infarction is caused by vascular compromise from the VM. Management includes surgical intervention to remove the infarcted bowel and address the VM.
137
What is the likely connection between bowel obstruction and a venous malformation (VM) in the gastrointestinal tract?
Bowel obstruction is caused by the VM acting as a structural abnormality in the gastrointestinal tract. Management includes surgical intervention to relieve the obstruction and address the VM.
138
What are the major complications associated with vascular malformations (VMs)?
The major complications of VMs include life-threatening **gastrointestinal hemorrhage** and **airway compression**.
139
What is the primary treatment for venous malformations (VMs)?
The primary treatment for VMs is **percutaneous intralesional sclerotherapy**, which uses agents like absolute ethanol as a sclerosing agent.
140
How does compression therapy affect patients with venous malformations (VMs) compared to those with generalized venous malformations (GVM)?
Compression garments can help decrease swelling and pain in patients with VMs by reducing venous pressure, while in GVM patients, compression increases pain and is not indicated.
141
What is the gold standard treatment for most capillary malformations?
The gold standard treatment for most capillary malformations is **surgical resection**.
142
What is the significance of genetic counseling in patients with vascular malformations?
Genetic counseling should be provided to patients with **VMCM** or **GVM** to address potential hereditary implications and management options.
143
What are the indications for treatment in patients with vascular malformations?
The most common indications for treatment in patients with vascular malformations are **pain** and **functional impairment**.
144
What are the potential local complications of sclerotherapy for vascular malformations?
Local complications of sclerotherapy may include **inflammation**, **edema**, **necrosis**, **chronic drainage**, and **temporary or permanent nerve deficit**.
145
Which type of vascular malformation is characterized as a no flow type?
**Arteriovenous malformations (AVMs)** are considered a no flow type of vascular malformation.
146
What is the pathognomonic lesion of Macrocephaly – Capillary Malformation (M-CM)?
The pathognomonic lesion of Macrocephaly – Capillary Malformation (M-CM) is **Capillary Malformation** itself.
147
What are the characteristics of lesions in capillary malformations?
Lesions of capillary malformations are typically **flat**, **painless**, do not **bleed spontaneously**, and are **not warm on palpation**, in contrast to AVMs.
148
What are the characteristics of vascular malformations (VMs)?
VMs grow proportionately with the patient, never regress spontaneously, and can become painful in response to trauma or hormonal changes.
149
What is the primary treatment for venous malformations (VMs)?
Percutaneous intralesional sclerotherapy is the primary treatment for VMs.
150
What complications can arise from venous malformations?
Major complications include life-threatening gastrointestinal hemorrhage and airway compression.
151
What is the role of compression garments in managing venous malformations?
Compression garments can help decrease swelling and pain in VMs of the extremity by decreasing venous pressure.
152
What is the gold standard treatment for most capillary malformations?
Sclerotherapy is often considered the gold standard treatment for most capillary malformations.
153
What is a significant risk for patients with Maffucci syndrome?
Patients with Maffucci syndrome have a high incidence of malignancies, mainly chondrosarcoma, glioma, fibrosarcoma, and angiosarcoma.
154
What is the significance of low-molecular-weight heparin (LMWH) in the management of vascular malformations?
LMWH is used to minimize hemorrhagic risk in patients undergoing surgical procedures related to vascular malformations.
155
What are the potential local complications of sclerotherapy?
Local complications can include inflammation, edema, necrosis, and temporary or permanent nerve deficit.
156
What is the importance of genetic counseling in patients with vascular malformations?
Genetic counseling should be provided to patients with VMCM or GVM to address potential hereditary implications.
157
A patient presents with a venous malformation (VM) that has become painful after trauma. What is the likely explanation for this symptom, and what management options should be considered?
Pain in a VM after trauma is likely due to thrombosis. Management options include compression garments to reduce venous pressure and low-molecular-weight heparin (LMWH) for 2 weeks to address local thrombosis.
158
A patient with Blue Rubber Bleb Nevus Syndrome (BRBNS) has chronic anemia. What is the underlying cause, and how should it be managed?
Chronic anemia in BRBNS is caused by bleeding from gastrointestinal venous malformations. Management includes conservative treatment with iron supplementation and blood transfusions.
159
A patient with a venous malformation (VM) in the cervicofacial area complains of morning pain and swelling. What is the likely explanation, and what management options are available?
Morning pain and swelling in a VM are likely due to venous stasis. Management options include compression garments to reduce venous pressure and sclerotherapy for localized treatment.
160
A patient with a history of venous malformations (VMs) presents with elevated D-dimer levels. What condition should be suspected, and how should it be managed?
Elevated D-dimer levels suggest chronic localized intravascular coagulopathy (LIC). Management includes monitoring for progression to disseminated intravascular coagulopathy and using LMWH during surgical procedures to minimize hemorrhagic risk.
161
A patient with a venous malformation (VM) undergoes sclerotherapy with absolute ethanol. What are the potential local and systemic complications of this procedure?
Local complications include inflammation, edema, blistering, necrosis, chronic drainage, and nerve deficits. Systemic complications include renal or pulmonary toxicity, myocardial depression, and cardiac arrest.
162
A patient with a venous malformation (VM) in the gastrointestinal tract presents with life-threatening hemorrhage. What are the treatment options?
Treatment options include endoscopic coagulation with Nd:YAG laser, bipolar or argon plasma coagulation, band-ligation, or open surgical resection of all gastrointestinal lesions.
163
A patient with a venous malformation (VM) in the gastrointestinal tract develops chronic anemia. What is the underlying cause, and how should it be managed?
Chronic anemia is caused by bleeding from gastrointestinal VMs. Management includes iron supplementation, blood transfusions, and possibly endoscopic or surgical interventions.
164
A patient with a venous malformation (VM) in the cervicofacial area develops airway compression. What is the likely cause, and what treatment options are available?
Airway compression is caused by the expansion of the VM. Treatment options include sclerotherapy, surgical resection, or tracheostomy in severe cases.
165
A patient with a venous malformation (VM) in the extremity experiences acute pain and swelling after surgery. What is the likely cause, and how should it be managed?
The acute pain and swelling are likely due to localized thrombosis or exacerbation of chronic localized intravascular coagulopathy (LIC). Management includes LMWH and monitoring for complications.
166
A patient with a venous malformation (VM) in the cervicofacial area develops chronic localized intravascular coagulopathy (LIC). What are the clinical signs, and how should it be managed?
Clinical signs include elevated D-dimer levels and, in severe cases, low fibrinogen levels. Management includes LMWH and avoiding triggers like surgery or hormonal changes.
167
A patient with a venous malformation (VM) in the cervicofacial area develops chronic drainage and inflammation after sclerotherapy. What is the likely cause, and how should it be managed?
Chronic drainage and inflammation are local complications of sclerotherapy. Management includes wound care and possibly additional interventions to address the VM.
168
A patient with a venous malformation (VM) in the cervicofacial area develops myocardial depression after sclerotherapy. What is the likely cause, and how should it be managed?
Myocardial depression is a systemic complication of sclerotherapy with absolute ethanol. Management includes supportive care and avoiding further use of ethanol-based sclerotherapy.
169
A patient with a venous malformation (VM) in the extremity develops severe pain during pregnancy. What is the likely cause, and how should it be managed?
Severe pain during pregnancy is likely due to hormonal influences exacerbating the VM. Management includes compression garments and possibly LMWH to reduce symptoms.
170
A patient with a venous malformation (VM) in the cervicofacial area develops renal toxicity after sclerotherapy. What is the likely cause, and how should it be managed?
Renal toxicity is a systemic complication of sclerotherapy with absolute ethanol. Management includes supportive care and avoiding further use of ethanol-based sclerotherapy.
171
A patient with a venous malformation (VM) in the gastrointestinal tract develops anemia and requires frequent blood transfusions. What is the likely cause, and how should it be managed?
Anemia is caused by chronic bleeding from gastrointestinal VMs. Management includes iron supplementation, blood transfusions, and possibly endoscopic or surgical interventions.
172
A patient with a venous malformation (VM) in the extremity develops chronic pain and swelling. What is the likely cause, and how should it be managed?
Chronic pain and swelling are caused by venous stasis and localized thrombosis. Management includes compression garments, LMWH, and possibly sclerotherapy.
173
A patient with a venous malformation (VM) in the cervicofacial area develops cardiac arrest during sclerotherapy. What is the likely cause, and how should it be managed?
Cardiac arrest is a systemic complication of sclerotherapy with absolute ethanol. Management includes resuscitation and avoiding further use of ethanol-based sclerotherapy.
174
A patient with a venous malformation (VM) in the extremity develops severe pain after sclerotherapy. What is the likely cause, and how should it be managed?
Severe pain after sclerotherapy is a local complication. Management includes pain relief and monitoring for other complications like inflammation or necrosis.
175
A patient with a venous malformation (VM) in the cervicofacial area develops pulmonary toxicity after sclerotherapy. What is the likely cause, and how should it be managed?
Pulmonary toxicity is a systemic complication of sclerotherapy with absolute ethanol. Management includes supportive care and avoiding further use of ethanol-based sclerotherapy.
176
A patient with a venous malformation (VM) in the gastrointestinal tract develops chronic bleeding. What is the likely cause, and how should it be managed?
Chronic bleeding is caused by the VM in the gastrointestinal tract. Management includes iron supplementation, blood transfusions, and possibly endoscopic or surgical interventions.
177
A patient with a venous malformation (VM) in the extremity develops severe inflammation after sclerotherapy. What is the likely cause, and how should it be managed?
Severe inflammation is a local complication of sclerotherapy. Management includes anti-inflammatory treatment and monitoring for other complications like necrosis or chronic drainage.
178
A patient with a venous malformation (VM) in the cervicofacial area develops necrosis after sclerotherapy. What is the likely cause, and how should it be managed?
Necrosis is a local complication of sclerotherapy with absolute ethanol. Management includes wound care and avoiding further use of ethanol-based sclerotherapy.
179
A patient with a venous malformation (VM) in the gastrointestinal tract develops anemia and requires frequent iron supplementation. What is the likely cause, and how should it be managed?
Anemia is caused by chronic bleeding from gastrointestinal VMs. Management includes iron supplementation, blood transfusions, and possibly endoscopic or surgical interventions.
180
What are the major complications associated with vascular malformations (VMs)?
The major complications of VMs include life-threatening gastrointestinal hemorrhage and airway compression.
181
What is the primary treatment for venous malformations (VMs)?
The primary treatment for VMs is percutaneous intralesional sclerotherapy, using agents such as absolute ethanol.
182
How does compression therapy affect patients with venous malformations (VMs) compared to those with lymphatic malformations (GVM)?
Compression garments can help decrease swelling and pain in VMs by reducing venous pressure, while in GVM patients, compression increases pain and is not indicated.
183
What is the recommended management for bleeding from gastrointestinal Blue Rubber Bleb Nevus (BRBN) lesions?
Bleeding from GI BRBN lesions can be managed conservatively with iron supplementation and blood transfusions.
184
What is the pathognomonic lesion of Macrocephaly – Capillary Malformation (M-CM)?
The pathognomonic lesion of Macrocephaly – Capillary Malformation (M-CM) is not specified in the provided content, but it is typically characterized by capillary malformations associated with macrocephaly.
185
What are the indications for treatment of vascular malformations?
The most common indications for treatment of vascular malformations are pain and functional impairment.
186
What are the alternatives to ethanol sclerotherapy for treating small venous malformations?
Alternatives to ethanol sclerotherapy include sodium tetradecyl-sulphate foam and lauromacrogol, which are effective for small VMs and cause fewer local adverse effects.
187
What is the significance of genetic counseling in patients with vascular malformations?
Genetic counseling should be provided to patients with Vascular Malformation with Capillary Malformation (VMCM) or Generalized Vascular Malformation (GVM) to address potential hereditary implications and management options.
188
What is the most common location of venous malformation?
The most common location of venous malformation is typically on the extremities.
189
What characterizes a large 'dominant' venous malformation (VM) lesion?
A large 'dominant' VM lesion is associated with multiple small, dark blue, nipple-like lesions, typically located on the palm and soles.
190
Which conditions are commonly found on the extremities?
Conditions commonly found on the extremities include Venous Malformation (VM) and possibly others depending on the context.
191
Which conditions are commonly found on the palms and soles?
Conditions commonly found on the palms and soles include Venous Malformation (VM) and Glomuvenous Malformation (GVM).
192
What are the characteristics of phleboliths in venous malformations?
Phleboliths in venous malformations are typically palpable and indicate the presence of calcified venous structures.
193
What is the inheritance pattern of certain vascular malformations?
Certain vascular malformations, such as Glomuvenous Malformation (GVM) and Venous Malformation (VM), can exhibit an autosomal dominant inheritance pattern.
194
Match Vascular Malformation conditions to their corresponding gene mutations: VMCM, GVM, Sporadic VM, BRBNS, Maffucci Syndrome, VVM.
| Condition | Gene Mutation |
|-----------|---------------|
| VMCM | TIE2 |
| GVM | MAP3K3 |
| Sporadic VM | Glomulin |
| BRBNS | IDH1 and 2 |
| Maffucci Syndrome | IDH1 and 2 |
| VVM | TIE2 |
195
What is the most common location of venous malformation?
Typically located on the palm and soles.
196
What characterizes a large 'dominant' venous malformation (VM)?
It is associated with multiple small, dark blue, nipple-like lesions.
197
What are the common locations for venous malformations?
Common on extremities and palms and soles.
198
What is a characteristic finding on palpation of venous malformations?
Phleboliths.
199
What is the inheritance pattern of certain venous malformations?
Autosomal Dominant.
200
What gene mutation is associated with VMCM?
TIE2.
201
What gene mutation is associated with GVM?
MAP3K3.
202
What gene mutation is associated with BRBNS?
Glomulin.
203
What gene mutations are associated with Maffucci Syndrome?
IDH1 and 2.
204
What type of vascular malformation is characterized by painful and non-compressible lesions?
Venous malformations (VM).
205
What is the significance of performing an ophthalmologic and neurologic examination in patients with capillary malformations located in the frontopalpebral area?
Capillary malformations in the frontopalpebral area, especially if involving the inner part of the upper eyelid, can be associated with Sturge-Weber Syndrome (SWS), which may lead to neurological complications. Therefore, a thorough examination is essential for early detection and management of potential neurological issues.
206
What is the most common location for venous malformations?
The most common location for venous malformations is the extremities, particularly the lower limbs.
207
What characterizes a venous malformation associated with multiple small, dark blue, nipple-like lesions?
This type of venous malformation is characterized by one large 'dominant' venous malformation lesion along with multiple small, dark blue, nipple-like lesions, typically located on the palms and soles. This presentation is indicative of a specific subtype of venous malformation.
208
Which vascular malformation is commonly associated with phleboliths on palpation?
Venous malformations (VM) are commonly associated with phleboliths, which are calcified structures found within the veins and can be palpated during examination.
209
Identify two vascular malformations that are inherited in an autosomal dominant manner.
The two vascular malformations that are inherited in an autosomal dominant manner are: 1. Glomuvenous malformations (GVM) 2. Maffucci Syndrome.
210
Match the disorder 'Vascular Malformation with Capillary Malformation (VMCM)' to its corresponding gene mutation.
Vascular Malformation with Capillary Malformation (VMCM) is associated with the gene mutation TIE2.
211
What gene mutation is associated with 'Sporadic Venous Malformation'?
Sporadic Venous Malformation is associated with the gene mutation MAP3K3.
212
Which gene mutations are linked to Maffucci Syndrome?
Maffucci Syndrome is linked to the gene mutations IDH1 and IDH2.
213
What are the characteristics of lymphatic malformations (LM)?
Localized morphogenic errors of lymphatic vessels, consisting of small vesicles or large cysts filled with lymphatic fluids, diagnosed before 2 years old, and can be congenital or sporadic.
214
What are the clinical features of cutaneous findings in lymphatic malformations?
Microcystic LM: ill-defined, can invade adjacent structures. Macrocystic LM: soft, multilobulated, well-defined mass. Dermal LM: small, millimeter-sized vesicles, can be clear or dark red, may bleed and become purple or nodular.
215
What is the significance of congenital lymphedema, also known as Milroy disease?
Suspected in cases of swelling of the dorsum of the feet with a family history of lymphedema. Lymphedema is present at birth, often bilateral, affecting the lower limbs below the knees. Associated features may include hydrocele, prominent veins, upslanting toenails, and papillomatosis.
216
What are the complications associated with lymphatic malformations?
Sudden enlargement in response to cough, inflammation, fever, or infection. Recurrent cellulitis is a major complication, especially in patients with KTS, potentially leading to septicemia. Facial asymmetry, particularly of the mandible, is common with microcystic LM. Airway obstruction can occur if the base of the tongue or cervicofacial area is affected.
217
What are the characteristics of Klippel-Trenaunay syndrome?
A combined capillary-lymphatic-venous malformation associated with hypertrophy of the affected limb, affecting lower limbs in 70% of cases. Characterized by a geographic, widespread CM associated with lymphatic vesicles. Pathognomonic sign: Persistence of a persistent embryonic vein on the lateral side of the thigh.
218
What defines CLOVES syndrome?
Congenital lipomatous overgrowth with vascular malformations, epidermal nevi, and skeletal anomalies, characterized by progressive asymmetric hypertrophy and multiple truncal lipomatous masses.
219
What is Gorham-Stout syndrome commonly referred to as?
Vanishing bone disease, characterized by progressive demineralization and destruction of bones replaced by lymphatic vessels and capillaries.
220
What are the key characteristics of lymphatic malformations (LM) and how do they differ from vascular malformations (VM)?
Lymphatic Malformations (LM): Localized morphogenic errors of lymphatic vessels, can present as small vesicles or large cysts filled with lymphatic fluids, typically diagnosed before 2 years of age, can be congenital or sporadic. Vascular Malformations (VM): Generally involve a broader range of vascular structures and may not be limited to lymphatic vessels.
221
What are the clinical implications of recurrent cellulitis in patients with Klippel-Trenaunay Syndrome (KTS)?
Recurrent cellulitis is a major complication in patients with KTS. It can lead to increased risk of septicemia due to bacterial infection, potential for chronic pain and disability due to repeated infections, and need for antibiotic therapy and possible surgical interventions.
222
How does the presentation of congenital lymphedema differ from other forms of lymphedema, and what are its associated features?
Congenital Lymphedema (e.g., Milroy disease) is characterized by swelling of the dorsum of the feet present at birth, often bilateral, affecting the lower limbs below the knees. Associated features may include hydrocele, prominent veins, upslanting toenails, papillomatosis, and urethral abnormalities in males.
223
What are the distinguishing features of microcystic and macrocystic lymphatic malformations?
Macrocystic LM: Soft, multilobulated, well-defined mass. Microcystic LM: Ill-defined, often invades adjacent structures. Dermal LM: Small, millimeter-sized vesicles, clear or dark red in color that can bleed and become purple or nodular.
224
What are the potential complications associated with extensive lymphatic malformations (LM) in the limbs?
Extensive limb LM can lead to elephantiasis, recurrent infections, functional impairment, and psychosocial impact.
225
What are the potential complications associated with lymphedema in patients with KTS and CLOVES?
Patients with KTS and CLOVES are at high risk of pulmonary embolism, cellulitis, chylothorax, protein-losing enteropathy, hypoalbuminemia, and rarely pleural effusion, hydrops fetalis, and chylous ascites.
226
What genetic mutations are associated with CLOVES syndrome and their implications for management?
CLOVES syndrome is associated with mutations in the PIK3CA gene. Genetic testing can help identify germline mutations, which can aid in management by identifying a germline GATA2 mutation indicating specific cancer surveillance programs.
227
What are the key imaging techniques used to diagnose lymphatic malformations (LMs)?
The key imaging techniques for diagnosing lymphatic malformations include Doppler ultrasound, MRI, and computed tomography (CT).
228
What is the clinical course and prognosis of lymphatic malformations (LM)?
The clinical course and prognosis of lymphatic malformations include usually growing with the child, causing asymmetry with bony overgrowth, and increases in size during infection or intralesional bleeding.
229
What are the recommended management strategies for patients with lymphedema?
Management strategies for lymphedema include systemic antibiotics, anti-inflammatory drugs, elastic stockings, massage, pneumatic compression devices, and rapamycin for extensive lymphatic malformations resistant to standard treatment.
230
What is the prognosis for Gorham-Stout syndrome?
Poor prognosis with lethality in 16% of cases.
231
What is Milroy disease caused by?
Inherited loss-of-function mutations in vascular endothelial growth factor receptor 3 (VEGFR3).
232
What is the recommended follow-up for patients with CLOVES syndrome?
Every 6 months until the end of puberty, including clinical examination and abdominal ultrasonography.
233
What is the management for patients with extensive lymphatic malformations resistant to standard treatment?
Rapamycin has been effectively used.
234
What are the characteristics of lymphatic malformations (LMs)?
Dilated, flat endothelium-lined channels of variable wall thickness, with no blood cells seen except after bleeding.
235
What is the significance of identifying a germ-line GATA2 mutation in patients?
It indicates specific cancer surveillance programs.
236
A patient with CLOVES syndrome is scheduled for surgery. What preoperative and postoperative measures should be taken to prevent complications?
The patient should receive low molecular weight heparin (LMWH) at 100 anti-Xa/kg/day before surgery and continue it for 10-20 days postoperatively to avoid perioperative coagulation abnormalities and reduce the risk of pulmonary embolism.
237
A patient with a suspected lymphatic malformation has a lesion that is not compressible by ultrasound probe. What type of malformation is this, and what imaging modality can confirm it?
This is likely a lymphatic malformation (LM). MRI can confirm the cystic nature of the lesion.
238
A patient with Gorham-Stout syndrome presents with progressive bone destruction. What is the prognosis, and what percentage of cases are lethal?
The prognosis is poor, and 16% of cases are lethal.
239
A patient with CLOVES syndrome has truncal lipomatous masses and vascular anomalies. What genetic mutation is responsible, and what pathway does it activate?
The genetic mutation responsible is in PIK3CA, which activates the PI3K/AKT/mTOR signaling pathway.
240
What are the systemic treatments for lymphedema management?
Systemic antibiotics for treating infections and anti-inflammatory drugs for pain relief.
241
What are the key imaging techniques used to diagnose lymphatic malformations?
Key imaging techniques for diagnosing lymphatic malformations (LMs) include Doppler Ultrasound, MRI, and Computed Tomography (CT).
## Footnote
Doppler Ultrasound identifies microcysts and macrocysts; MRI demonstrates cystic nature; CT shows bony involvement.
242
What are the potential complications associated with lymphatic malformations in children?
Complications include asymmetry, bony overgrowth, infection, regression after local infection, and severe cases leading to Gorham-Stout syndrome.
243
What are the characteristics of arteriovenous malformations (AVM)?
AVMs are fast-flow vascular malformations characterized by a 'nidus' composed of direct communications between multiple feeding arteries and draining veins without an intervening normal capillary bed.
244
What is hereditary hemorrhagic telangiectasia (HHT)?
HHT is an autosomal inherited disorder characterized by multiple cutaneous and mucosal telangiectasias, epistaxis, and a positive family history.
245
What are the key features of Parkes Weber syndrome?
Parkes Weber syndrome is characterized by a large, congenital, cutaneous red vascular stain on an extremity, soft tissue and skeletal hypertrophy, and underlying multiple arteriolar-venular microfistulas.
246
What are the clinical features associated with Bonnet-Dechaume-Blanc or Wyburn-Mason syndrome?
Features include sporadic, syndromic AVM in the centrofacial area, oculo-orbital and cerebral involvement, and complications like epistaxis and exophthalmos.
247
What are the common manifestations of hereditary hemorrhagic telangiectasia (HHT)?
Common manifestations include spontaneous recurrent epistaxis, skin telangiectasia, hepatic or pulmonary AVMs, and gastrointestinal bleeding.
248
What is the treatment approach for macrocystic lymphatic malformations (LM)?
Treatment may involve fluid aspiration followed by percutaneous, intralesional injection of sclerosing agents.
249
What are the symptoms associated with Cobb syndrome?
Cobb syndrome manifests with sudden onset of back or lower extremity pain associated with sensory disturbance.
250
What is the prevalence of hereditary hemorrhagic telangiectasia (HHT)?
HHT has a prevalence of approximately 1 in 5000 individuals.
251
What are the potential complications of Parkes Weber syndrome?
Complications can include congestive heart failure due to increased blood flow and vascular malformations.
252
What genetic mutations are associated with hereditary hemorrhagic telangiectasia (HHT)?
Genetic mutations associated with HHT include ENG (HHT type 1), ACVRL1 (HHT type 2), SMAD4, and GDF2.
253
What is the hallmark cutaneous feature of Cobb syndrome?
The hallmark cutaneous feature is a warm lesion on palpation that masquerades as a capillary malformation (CM).
254
What is the diagnosis for a patient with a large, congenital, red vascular stain on the lower extremity?
The diagnosis is Parkes Weber syndrome. Complications may include congestive heart failure.
255
What is the next step in management for a suspected lymphatic malformation with microcysts and macrocysts?
The next step in management may include sclerotherapy with agents like sodium tetradecyl sulfate or surgical resection.
256
What are the common treatment options for macrocystic lymphatic malformations (LM)?
Treatment options include fluid aspiration followed by percutaneous injection of sclerosing agents and surgical resection.
257
What are the key characteristics of arteriovenous malformations (AVM)?
Key characteristics include the presence of a nidus, onset at birth, variability in localization, and rarity.
258
What are the clinical manifestations of Hereditary Hemorrhagic Telangiectasia (HHT)?
Clinical manifestations include a triad of multiple cutaneous and mucosal telangiectasias, recurrent epistaxis, and positive family history.
259
What are the stages of severity for arteriovenous malformations (AVMs) according to Schobinger classification?
Stages are: I - red stain with bruit; II - prominent and tortuous veins; III - darker, painful, ulcerate and bleed; IV - cardiac failure.
260
What complications can arise from AVMs involving the face?
They can cause gingival bleeding or epistaxis and may lead to bony hypertrophy causing asymmetry.
261
What is the prevalence of brain AVMs in patients with HHT?
The prevalence is 1000-fold higher in patients with HHT1 and 100-fold higher in patients with HHT2.
262
What genetic mutations are associated with CM-AVM1?
Loss-of-function mutations in RASA1.
263
What is the role of EPHB4 in CM-AVM2?
EPHB4 encodes an endothelial cell receptor in venous vessels, and its mutation is associated with CM-AVM2.
264
What imaging technique is preferred to delineate the extent of an AVM?
MRI is preferred over CT.
265
What histological features characterize AVMs?
AVMs are demarcated and consist of distorted arteries and veins with thickened muscle walls caused by arteriovenous shunting and fibrosis.
266
What Schobinger stage does a painful, ulcerated lesion on the extremity represent?
This represents Schobinger stage III. Management may include superselective embolization followed by complete surgical excision if feasible.
267
What life-threatening complications should be monitored for in a neonate with a vein of Galen aneurysmal malformation?
Life-threatening complications include intrauterine intracerebral bleeding, postnatal brain and medullary AVM bleeding, and high-output cardiac failure.
268
What genetic mutation is responsible for CM-AVM1, and what is the inheritance pattern?
The genetic mutation responsible is a loss-of-function mutation in RASA1. The inheritance pattern is autosomal dominant.
269
What Schobinger stage does a patient with AVM present with cardiac failure represent?
This represents Schobinger stage IV. The prognosis is poor.
270
What Schobinger stage does a patient with a history of AVM presenting with cardiac failure represent, and what is the prognosis?
This represents Schobinger stage IV. The prognosis is poor, especially in childhood.
271
What is the role of EPHB4, and how does its loss of function affect signaling in CM-AVM2?
EPHB4 encodes an endothelial cell receptor in venous vessels. Its loss of function causes increased RAS-MAPK signaling.
272
What are the potential complications associated with hepatic AVM in patients with HHT?
Potential complications include life-threatening hemorrhage, stroke (hemorrhagic or ischemic), and brain abscess.
273
What percentage of HHT patients experience recurrent GI bleeding?
Recurrent GI bleeding occurs in 10% to 40% of HHT patients.
274
What Schobinger stage does a suspected AVM with a lesion that has a bruit and increased pulsation represent?
This represents Schobinger stage I.
275
What Schobinger stage does a suspected AVM with a lesion that has become darker and painful represent, and what complications might arise?
This represents Schobinger stage III. Complications might include ulceration and bleeding.
276
What Schobinger stage does a suspected AVM with a lesion with prominent and tortuous veins represent?
This represents Schobinger stage II.
277
What are the stages of severity for arteriovenous malformations (AVMs) according to the Schobinger classification?
The stages according to severity are:
1. **Schobinger stage I**: A red stain with bruit and pulses of increased amplitude.
2. **Schobinger stage II**: Veins become prominent and tortuous.
3. **Schobinger stage III**: Becomes darker and painful, ulcerates, and bleeds.
4. **Schobinger stage IV**: Cardiac failure.
278
How does the presence of cutaneous manifestations in CM-AVM relate to the risk of complications?
CM-AVM manifests as multiple atypical cutaneous malformations (CMs) that can be associated with fast-flow lesions like AVM or AVF. The complications can vary depending on the location and size of the AVMs, with about 10% to 15% of patients having a Parkes Weber phenotype, which can lead to significant complications.
279
What genetic mutations are associated with CM-AVM1 and CM-AVM2, and how do they affect the condition?
CM-AVM1 is caused by loss-of-function mutations in **RASA1**, which encodes P120RASGAP, a GTPase regulating RAS activity. CM-AVM2 is caused by loss-of-function mutations in **EPHB4**, which encodes an endothelial cell receptor in venous vessels.
280
What are the common complications associated with arteriovenous malformations (AVMs) involving the face?
Complications of AVMs involving the face can include:
- **Gingival bleeding** or epistaxis.
- **Bony hypertrophy**, leading to facial asymmetry.
- **Intracerebral AVMs** can cause epistaxis, exophthalmos, and hemianopia, and may lead to mental retardation.
281
What imaging techniques are preferred for diagnosing arteriovenous malformations (AVMs) and why?
**MRI** is preferred over CT for delineating the extent of an AVM and differentiating it from hemangiomas and other vascular malformations (VMs) because it provides better visualization of the flow voids corresponding to fast-flow vessels.
282
What is the significance of genetic testing in patients with AVM associated with multifocal cutaneous CMs or telangiectasias?
Genetic testing is important for:
- **Genetic counseling** and guiding further imaging.
- Screening for **PTEN mutations** in patients with AVM and associated macrocephaly.
283
What are the clinical implications of improper management of AVMs?
Improper management of AVMs can lead to:
- **Dramatic consequences** and expansion of the AVM.
- Local destruction or **life-threatening bleeding**.
284
What are the key procedures involved in the management of AVMs?
Key procedures include:
1. **Superselective embolization**: Palliative approach for unresectable AVMs.
2. **Radical excision**: Should be complete and radical with carcinologic margins.
285
What are the potential medications used in the management of AVMs and their effects?
Potential medications include:
- **Elastic stockings**: Stabilize the lesion and protect the skin.
- **Thalidomide**: Used to reduce frequency and duration of nosebleeds in patients with HHT.
286
What is the role of genetic counseling in the management of AVMs?
Genetic counseling is mandatory for patients with:
- **CM-AVM** (Capillary Malformation-Arteriovenous Malformation)
- **HHT** (Hereditary Hemorrhagic Telangiectasia)
287
What is the purpose of arteriography in the treatment of AVM?
To determine feeding arteries and the nidus before any treatment.
288
What genetic testing is indicated for patients with AVM associated with multifocal cutaneous CMs or HHT?
Molecular diagnosis helps genetic counseling and guide further imaging.
289
What are the signs that support a diagnosis of AVM?
Disproportionate warmth on palpation, pulse, thrill, and bruit.
290
What is the clinical course of AVMs over time?
AVMs tend to worsen with time, causing local destruction or life-threatening bleeding.
291
What is the focus of management for AVMs?
To control the evolution of the malformation rather than to cure it.
292
What is superselective embolization used for in AVM treatment?
It is a palliative approach done only in unresectable, complicated AVM.
293
What is the role of thalidomide in the treatment of AVMs?
It was used to reduce the frequency and duration of nosebleeds in patients with HHT.
294
What is the recommended follow-up for patients after AVM treatment?
Annual Doppler ultrasonography or MRI for at least 5 years is mandatory after any treatment.
295
What is Gorham-Stout syndrome characterized by?
Gorham-Stout syndrome is characterized by progressive asymmetric hypertrophy, multiple truncal lipomatous masses with paraspinal fast-flow or slow-flow vascular anomalies.
296
What are the clinical features of patients with HHT?
Patients with HHT typically have macrocephaly, penile freckling, multiple developmental venous anomalies in the brain, fast-flow vascular malformations (VMs), and an increased risk of malignancy.
297
What is the typical initial manifestation of HHT?
The typical initial manifestation of HHT is often epistaxis (nosebleeds).
298
What is the significance of Schobinger stages in vascular malformations?
Schobinger stages classify the progression of vascular malformations based on symptoms such as prominence and tortuosity of veins, cardiac failure, ulceration and bleeding.
299
What is the pathognomonic sign of Klippel-Trenaunay syndrome?
The pathognomonic sign of Klippel-Trenaunay syndrome is the presence of a capillary malformation (CM) associated with lymphatic vesicles and venous malformations.
300
What is a rare condition in which lymphatic malformations can invade several organs?
CLOVES
301
What syndrome is characterized by progressive asymmetric hypertrophy and multiple truncal lipomatous masses?
GORHAM-STOUT SYNDROME
302
Which syndrome is characterized by progressive demineralization and destruction of bones replaced by lymphatic vessels?
BONNET-DECHAUME-BLANC OR WYBURN-MASON SYNDROME
303
What condition typically presents with macrocephaly, penile freckling, and multiple developmental venous anomalies?
PHOSPHATASE AND TENSIN HOMOLOG HAMARTOMA TUMOR SYNDROME
304
What syndrome manifests in childhood with sudden onset of back or lower extremity pain?
COBB SYNDROME
305
What symptoms may include abdominal pain, jaundice, and high-output cardiac failure?
PARKES WEBER SYNDROME
306
What is characterized by a geographic, widespread capillary malformation associated with lymphatic vessels?
GENERALIZED LYMPHATIC ANOMALY
307
What is characterized by a large, congenital, cutaneous red vascular stain on an extremity?
KLIPPEL-TRENAUNAY SYNDROME
308
What is the first stage of Schobinger classification for vascular malformations?
Veins become prominent and tortuous.
309
What is the second stage of Schobinger classification for vascular malformations?
Cardiac failure.
310
What is the third stage of Schobinger classification for vascular malformations?
Ulcerate and bleed.
311
What is a widespread capillary malformation associated with lymphatic vessels?
GENERALIZED LYMPHATIC ANOMALY
312
What is the fourth stage of Schobinger classification for vascular malformations?
Red stain with bruit and pulses of increased amplitude.
313
What is the typical initial manifestation of HHT?
Telangiectasia.
314
What medication is used in unresectable stage 3 AVMs for which standard treatment has not been successful?
Rapamycin.
315
What is a clue to differentiate AVM from CM or hemangioma?
Presence of high-output cardiac failure.
316
What is the pathognomonic sign of Klippel-Trenaunay syndrome?
Capillary malformations associated with varicosities.
317
What are the clinical features of Gorham-Stout syndrome and its prognosis?
Gorham-Stout syndrome is characterized by progressive demineralization and destruction of bones, replaced by lymphatic vessels and capillaries. It has a good prognosis, with painful pathological fractures being common in generalized lymphatic anomaly.
318
Describe the clinical presentation and complications associated with Klippel-Trenaunay syndrome.
Klippel-Trenaunay syndrome manifests with a geographic, widespread capillary malformation associated with lymphatic vesicles. Patients may experience complications such as venous prominence, cardiac failure, and ulceration leading to bleeding.
319
What is the triad of Hereditary Hemorrhagic Telangiectasia (HHT)?
The triad of HHT includes: 1. Recurrent epistaxis (nosebleeds) 2. Telangiectasias (small dilated blood vessels) 3. Arteriovenous malformations (AVMs) in various organs.
320
What is the typical initial manifestation of Hereditary Hemorrhagic Telangiectasia (HHT)?
The typical initial manifestation of HHT is recurrent epistaxis (nosebleeds).
321
What medication is used in unresectable stage 3 AVMs when standard treatment has not been successful?
Rapamycin is the medication used in unresectable stage 3 AVMs for which standard treatment has not been successful.
322
How can one differentiate an arteriovenous malformation (AVM) from a capillary malformation (CM) or hemangioma?
A clue to differentiate AVM from CM or hemangioma is the presence of high-flow vascular anomalies and associated symptoms such as high-output cardiac failure, which are not typically seen in CMs or hemangiomas.
