147: Vascular Malformations Flashcards
What are vascular malformations and how do they arise?
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.
What are the two major categories of vascular anomalies according to the classification system developed by Mulliken and Glowacki?
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).
What is the prevalence of vascular malformations in the population?
Vascular malformations affect about 0.3% of the population, with most of these being capillary malformations (CMs).
How do vascular malformations typically grow and what are their clinical features?
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.
What are the two types of flow classifications for vascular malformations?
Vascular malformations are classified into: - Slow flow: capillary, lymphatic, venous, and combined - Fast flow: arterial, arteriovenous, and combined.
What is the typical approach to diagnosing vascular malformations?
The diagnosis of vascular malformations is usually based on clinical features in 90% of superficial malformations.
What histological characteristics are associated with vascular malformations?
Histologically, vascular malformations consist of enlarged, tortuous vessels with quiescent endothelium. Unlike hemangiomas, they do not exhibit cellular proliferation.
What are vascular malformations believed to arise from?
Errors in the development of vessels during the 4th to 10th weeks of intrauterine life.
What percentage of the population is affected by vascular malformations?
About 0.3%.
How are vascular malformations classified?
They are classified into vascular tumors and vascular malformations, which are further subdivided based on the affected vessel type.
What is a key characteristic of vascular malformations in relation to growth?
They grow proportionately with the patient.
What is the usual basis for diagnosing superficial vascular malformations?
The diagnosis is usually based on clinical features in 90% of cases.
What types of flow are vascular malformations divided into?
They are divided into slow flow (capillary, lymphatic, venous, and combined) and fast flow (arterial, arteriovenous, and combined).
What is the histological characteristic of vascular malformations?
They consist of enlarged, tortuous vessels with quiescent endothelium.
What syndromes are associated with vascular malformations?
Syndromes such as Klippel-Trenaunay syndrome, Maffucci syndrome, CLOVES syndrome, and Parkes Weber syndrome.
What is the significance of somatic genetic mutations in vascular malformations?
They have been unraveled as the cause of many common sporadic lesions.
What are the main types of vascular anomalies classified under vascular malformations?
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) |
What are the clinical characteristics of capillary malformations?
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 |
What are the genetic causes associated with capillary malformations?
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 |
What is a common type of capillary malformation mentioned in the table?
Sturge-Weber syndrome.
What is the genetic cause associated with venous malformations according to the table?
GLMN gene mutation.
What is the clinical characteristic of capillary malformations regarding skin color?
Red.
What is the treatment option for venous malformations as per the clinical characteristics table?
Sclerotherapy, surgery, sirolimus medication.
What is the histology characteristic of lymphatic malformations?
Cystic lymphatic channels D2-40 positive.
What is a syndromic malformation associated with slow flow?
Klippel-Trenaunay syndrome.
What is the aspect of skin associated with venous malformations?
Normal to yellowish-purple.
What is the clinical characteristic of arteriovenous malformations regarding skin color?
Normal to red.
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 | — |
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 |
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 |
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.
What is the prevalence of capillary malformations (CMs)?
The prevalence of capillary malformations (CMs) is approximately 0.3%.
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%)
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.
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.
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.
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.
What is the primary method for diagnosing vascular anomalies noninvasively?
Doppler ultrasonography is used for noninvasive examination of vascular anomalies.
What is the significance of genetic testing in vascular anomalies?
Genetic testing can confirm or help make the precise diagnosis of vascular anomalies.
What are capillary malformations commonly known as?
Capillary malformations are commonly called port-wine stains.
What is the prevalence of capillary malformations?
The prevalence of capillary malformations is 0.3%.
What is a characteristic feature of capillary malformations?
Capillary malformations are slow-flow vascular malformations.
What is the inheritance pattern of capillary malformations?
Capillary malformations mainly occur sporadically, although some show autosomal dominant inheritance.
What is the clinical significance of true capillary malformations?
True capillary malformations persist lifelong.
What is Phakomatosis Pigmentovascularis thought to be?
Phakomatosis Pigmentovascularis is thought to be an embryogenic anomaly affecting the vasomotor nerves and melanocytes.
What is Sturge-Weber syndrome associated with?
Sturge-Weber syndrome is associated with capillary malformations and neurological symptoms.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
What causes CM-AVM2?
Inactivating mutations in EPHB4.
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.
What imaging study is indicated if a CM is painful, warm, or spontaneously bleeds?
Doppler ultrasound.
What is the significance of EPHB4 in CM-AVM2?
EPHB4 regulates arteriovenous identity and interacts with RASA1 to regulate RASMAPK signaling.
What should be done during the first months of life for patients with CM?
Ophthalmologic and neurologic examinations are mandatory.
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.
What genetic testing is indicated for patients with multifocal lesions in CM?
Screening for RASA1 and EPHB4 mutations.
What is the clinical significance of identifying a germline mutation in patients with CM?
It enables precise counseling and surveillance.
What should patients with pale, uncharacteristic CMs be screened for?
PTEN mutations due to increased cancer risk.
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.
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.
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.
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.
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.
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).
What is the significance of S100 staining in the pathology of capillary malformations?
In the pathology of capillary malformations, S100 staining shows abnormal innervation.
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.
What are the recommended interventions for managing capillary malformations (CM)?
- 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.
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.
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.
What is the gold standard therapy for most capillary malformations?
Laser treatment is the gold standard therapy for most CM.
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.
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.
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.
What is the overall incidence of venous malformations in the population?
The overall incidence is 1 in 10,000 in the population.
What are the inherited forms of venous malformations?
1% are inherited mucocutaneous venous malformations (VMCMs) and 5% are inherited glomuvenous malformations (GVMs).
What is the recommended follow-up for patients with Sturge-Weber syndrome (SWS)?
Ophthalmologic follow-up should be started immediately after birth.
What is the significance of early treatment for capillary malformations?
Early treatment during childhood does not reduce the number of laser sessions needed.
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%).
What complications can arise from capillary malformations?
Complications include pyogenic granuloma and lip hypertrophy.
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.
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.
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.
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).
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.
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.
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.
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.
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.
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.
What is Maffucci Syndrome?
A rare disorder characterized by multiple enchondromas associated with subcutaneous VMs of the distal extremities, starting in childhood.
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.
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.
What is the typical location for venous malformations?
The most common location is the head and neck area.
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.
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.
What are the developmental characteristics of GVM?
GVM lesions are present at birth, slowly expand during childhood, and new small lesions appear over time.
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.
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.
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.
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.
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.
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.
What genetic mutation is associated with glomuvenous malformation (GVM)?
GVM is associated with dominant, loss-of-function mutations in the glomulin gene.
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.
