Vascular Tumors And Malformations - Vascular Injury Hand & Lower Extremities Flashcards
An 18-month-old infant is evaluated for a 1-cm red lesion of the upper back. The lesion was noted at 2 weeks of age and rapidly enlarged over the next 6 months. The mass remained stable but has started to slowly shrink and fade over the past 6 months. Which of the following is the most appropriate next step in management of the lesion?
A) Embolization followed by resection 24 to 48 hours later
B) Oral propranolol
C) Punch biopsy
D) Sclerotherapy
E) Observation
The correct response is Option E.
The lesion described is an infantile hemangioma. This tumor is in the involution phase in a nonproblematic area. The most appropriate next step in management for this lesion is observation. Infantile hemangiomas are benign vascular tumors that affect 5% of the population. They typically appear at 2 weeks of age in contrast to vascular malformations (e.g., venous malformations, lymphatic malformations, arteriovenous malformations) which are present at birth. They enter a proliferative phase of rapid growth, plateau, and begin involution around age 12 months. Involution is complete by age 4 years in 90% of patients. Most infantile hemangiomas are not problematic and do not require treatment. Following involution, a residual fibrofatty area can be excised if it is bothersome. Concerning hemangiomas, such as near the eyelid, can cause obstructive visual symptoms. Problematic hemangiomas can be treated to slow progression and shrink the lesion. This is most effective early in the proliferative phase. Those lesions can be treated pharmacologically with oral propranolol. Focal symptomatic lesions can be injected with corticosteroids. Topical timolol may be used for small, superficial lesions. Pulse dye laser can be used to treat telangiectasias that remain after involution. Sclerotherapy is the treatment for vascular malformations and macrocystic lymphatic malformations. Embolization followed by resection is the treatment for symptomatic arteriovenous malformations. A punch biopsy is not indicated for this lesion, which is following the classic growth pattern of a classic infantile hemangioma in the involution phase.
A 10-month-old female infant undergoes examination for an enlarging bright red mass involving the left cheek and lower eyelid. Her parents report that the mass was not present at birth but has grown rapidly over the past 9 months. Following cardiology clearance, propranolol treatment is initiated and gradually increased to a dosage of 2 mg/kg/day. Which of the following electrolyte imbalances is the most likely side effect in this patient?
A) Hypercalcemia
B) Hyperkalemia
C) Hypermagnesemia
D) Hypernatremia
E) Hyperphosphatemia
The correct response is Option B.
Infantile hemangiomas are the most common benign tumors in infancy. Their clinical course is characterized by a period of rapid growth over 6 to 12 months (proliferative phase), followed by slow involution over the subsequent 1 to 5 years. In the absence of visual, nasolaryngeal, and auditory canal obstruction, conservative/medical management is recommended. Recently, the efficacy of propranolol, a nonselective beta-adrenergic blocker, has been demonstrated in treating hemangiomas and has established itself as a first-line treatment option. Adverse effects, however, include bradycardia, hypoglycemia, and electrolyte imbalances, notably hyperkalemia.
Hypercalcemia, hypermagnesemia, hypernatremia, and hyperphosphatemia have not been associated with the administration of propranolol.
A 2-month-old female infant presents with a raised, nonpulsatile, vascular lesion of the lower lip that has worsened progressively since it first appeared soon after birth. A photograph is shown. Her parents deny history of trauma, but since monitoring, report increased tenderness, bleeding, and difficulty with feeds. Which of the following is the most appropriate first step in treatment?
A) Beta-adrenergic blocker administration
B) Embolization
C) Laser therapy
D) Surgical excision
E) Topical corticosteroid administration
The correct response is Option A.
Beta-adrenergic blockers, including oral propranolol (Hemangeol), would be the best first-line treatment due to the size and location of the hemangioma. Such medications can act to limit growth, decrease bulk, and prevent complications of the hemangioma in a time-sensitive manner.
Embolization is often employed in treatment of arteriovenous and lymphatic malformations. It is typically the treatment of choice for complications of larger vessels, rather than the capillaries comprising a hemangioma.
Laser therapy is beneficial in the treatment of port-wine stains and telangiectasia post involution of hemangiomas. The hemangioma described in the vignette is clearly in the proliferative phase, making it too large, thick, and deep to respond well to laser therapy alone.
Surgical excision is not a viable option in this case due to the extensive size and location of the hemangioma. The treatment is not emergent, since the patient described remains stable, and more conservative options should be exhausted before resorting to resection.
Topical corticosteroid is not preferred in this case due to the large size and location of the hemangioma. Topicals should not be applied to the intraoral mucosa, and corticosteroids would be too slow-acting to improve significant symptoms such as bleeding and poor feeding.
A 5-week-old female infant is evaluated for a 2-cm red lesion on her forehead. The lesion was noted at age 2 weeks and has grown rapidly. There are no other lesions and there was no herald patch at birth. Which of the following factors is most suggestive of infantile hemangioma?
A) Absence of herald patch
B) Absence of ulceration
C) Location
D) Patient gender
E) Rate of growth
The correct response is Option E.
Hemangiomas are the most common tumors found in infancy. These vascular tumors are characterized by rapid growth and increased cellular proliferation. Hemangiomas typically present between 2 weeks old and 2 months old. Vascular malformations, on the other hand, are present at birth and grow slowly. The clinical course of a hemangioma is predictable and includes rapid proliferation during the first 9 months of life, followed by gradual involution until 3.5 years of age. Most cutaneous lesions are located in the head and neck, followed by the trunk, and then the extremities. Extracutaneous sites most commonly involve the parotid glands or liver. Reports of nervous system involvement are rare. Most hemangiomas can be diagnosed by history and physical examination alone. About 5% require biopsy or radiologic imaging. The tumor may involve both sexes but is five times more common in females. The onset of a red lesion followed by rapid growth is the sine qua non for infantile hemangioma. In 30 to 50% of cases, the hemangioma is preceded by a telangiectasia or bruise-like patch known as a herald patch. Some hemangiomas may ulcerate during their proliferative growth phase.
Surgical excision of an involuted infantile hemangioma is planned for residual deformity. Which of the following immunohistochemical markers is most specific for the suspected diagnosis?
A) D2-40
B) GLUT-1
C) HER2/neu
D) PROX-1
E) VEGFR-3
The correct response is Option B.
GLUT-1 immunostain positivity is the defining feature in distinguishing infantile hemangioma from other vascular anomalies.
HER2/neu is a marker that is used in breast cancer pathological studies. HER2 is a tyrosine kinase receptor that is part of the human epidermal growth factor family. Overexpression is found in approximately 30% of breast cancers and is associated with a more aggressive clinical course with higher recurrence.
VEGFR-3 marker positivity is observed in lymphatic malformations.
PROX-1 marker positivity is observed in lymphatic malformations, as well as tufted angioma and Kaposiform hemangioendothelioma.
D2-40, like PROX-1, is a marker for lymphatic origin, and would not be expected to be broadly positive within an infantile hemangioma.
A newborn female presents with a lesion on the occipital scalp/posterior neck. A photograph and x-ray are shown. MRI has been performed. It is most appropriate to order which of the following studies before formulating a treatment plan?
A) Brain MRI to rule out structural anomalies
B) Doppler ultrasonography to assess flow of the lesion
C) Echocardiography to assess cardiac function
D) Incisional biopsy for genetic analysis
E) Lymphatic mapping with isosulfan blue to identify the sentinel lymph node
The correct response is Option C.
This patient has a rapidly involuting congenital hemangioma (RICH). These are often large and fast-flow and can cause high-output cardiac failure. Therefore, it is important to assess cardiac function to ascertain whether this patient needs cardiac support (eg, digoxin). While Doppler ultrasonography may have been indicated as a first-line imaging study, the MRI and magnetic resonance angiography demonstrated the extent of the lesion and flow; Doppler ultrasonography will not give additional information at this time. Incisional biopsy may be indicated if there are concerns about the diagnosis. However, performing a biopsy to obtain tissues for genetic analysis is not indicated, as the genetic information will not give information to direct treatment. Brain MRI to rule out structural anomalies is indicated when a patient is suspected of having posterior fossa brain malformations, hemangioma, arterial lesions, cardiac abnormalities, and eye abnormalities (PHACE) syndrome, a large segmental infantile hemangioma in the face. Lymphatic mapping for sentinel node is used for head and neck malignancies and has no role here.
In this case, the patient did develop mild cardiac failure. This lesion was embolized one day before she underwent resection of this lesion.
A 2-year-old female infant presents with a 3 × 3-cm red, firm, raised mass on the dorsum of the right hand. Physical examination shows a red mass with a smooth surface, and a rim of decreased pigmentation. The patient’s mother reports that the mass has not changed in size, appearance, or coloration since birth. An ultrasound and MRI at age 3 months showed a well-defined, homogenous mass with high-blood flow characteristics. Which of the following is the most likely diagnosis in this patient?
A) Dermatofibrosarcoma protuberans
B) Infantile hemangioma
C) Lymphatic malformation
D) Non-involuting congenital hemangioma (NICH)
E) Venous malformation
The correct response is Option D.
Non-involuting congenital hemangioma (NICH) is a rare form of hemangioma that is present at birth, is stable in size over time (ie, does not involute), and often has a white-grey rim. It is histologically and radiographically similar to infantile hemangioma except that it stains negative for glucose transporter protein 1 (GLUT1).
Venous malformation and lymphatic malformation are low-flow and do not fit the clinical description: they are typically darker in color, amorphous in form, and are compressible. Dermatofibrosarcoma protuberans is rare in children, begins more like a flat scar, and grows over time. It is not a high-flow lesion.
A 6-month-old girl is evaluated because of facial asymmetry with right cheek enlargement. Imaging confirms an infantile hemangioma of the parotid gland. There is no bleeding, and she is otherwise feeding and developing normally. Which of the following is the most appropriate immediate treatment in this patient?
A) Calcium channel blockers
B) Laser therapy
C) Percutaneous sclerotherapy
D) Surgical resection
E) Observation alone
The correct response is Option E.
Infantile hemangiomas are one of the most common infant tumors. Hemangiomas of the parotid gland often surround the facial nerve and are difficult to resect completely. Luckily many parotid hemangiomas resolve on their own without the need for resection.
Beta-adrenergic blockers can be effective in decreasing the size for symptomatic or large hemangiomas with minimal side effects. The parotid hemangiomas are too deep for significant improvement with laser treatment. After involution, a small portion of children with a history of infantile parotid gland hemangioma have excess skin that requires surgical reduction. Percutaneous sclerotherapy has a role in the management of venous malformations, but not hemangiomas.
A 2-month-old female infant is brought in by her parents for evaluation of a 4-cm, enlarging infantile hemangioma on her left cheek that does not obstruct her vision. Which of the following is the most appropriate management?
A) Intralesional corticosteroid injection
B) Laser ablation
C) Oral propanolol therapy
D) Surgical excision
E) Observation
The correct response is Option C.
Systemic propanolol therapy has quickly become a safe and effective treatment for hemangioma and is well tolerated with few side effects. It is considered the first line medical treatment of infantile hemangiomas at many medical centers. Surgical treatment is generally reserved for lesions that are refractory to medical management which present a functional impairment such as affecting or obstructing vision. Laser ablation and intralesional corticosteroid injection are less effective in several meta-analyses and some randomized controlled trials. Observation is reasonable for small, stable lesions in cosmetically non-sensitive areas.
A 2-week-old premature male twin develops a red, rapidly enlarging lesion of the posterior trunk. Which of the following is the most important factor suggesting a diagnosis of infantile hemangioma?
A) Growth of the lesion
B) Location of the lesion
C) Patient gender
D) Premature birth
E) Twin gestation
The correct response is Option A.
Infantile hemangioma is the most common tumor of infancy. These lesions typically present between 2 weeks and 2 months of life and have a predictable clinical course, including rapid proliferation during the first 9 months of life (proliferative phase), followed by gradual involution until 3.5 years of age. Infantile hemangiomas most commonly occur in the skin, but can also occur in other sites, with the liver being the most common extracutaneous site. For cutaneous lesions, most are located in the head and neck, followed by the trunk, and then by the extremities. >95% of infantile hemangiomas are diagnosed by history and physical examination; <5% require imaging or biopsy for diagnosis. The onset of a red lesion at 2 weeks of age followed by rapid growth is pathognomonic for infantile hemangioma. The tumor affects both sexes, but is 3 to 4 times more common in females. Infantile hemangioma is also more frequent in premature infants and twins who are low birth weight. Some infantile hemangiomas can ulcerate during the proliferating phase.
A 14-year-old boy is brought to the office for evaluation because of recurrent, severe nosebleeds that require visits to the emergency department. Dermatologic examination shows no skin discolorations. Neurologic examination shows no abnormalities. Family history includes frequent nosebleeds. A diagnosis of hereditary hemorrhagic telangiectasias (HHT) is suspected. A mutation of which of the following genes is most likely in this patient?
A) ENG
B) KRIT1
C) PIK3CA
D) PTEN
E) RASA1
The correct response is Option A.
In patients with hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, characteristic abnormal arteriovenous shunting is noted in the mucosae of the naso- and oropharynx, and pulmonary, GI/hepatic, and CNS systems. They are at risk for bleeding and anemia, and even stroke (CNS manifestation). Several genes have been associated with HHT, including the endoglin gene, ENG. ACVRL1 and SMAD4 may also be associated.
RASA1 mutation has been associated with capillary malformations with or without AVMs. Oval, macular port-wine staining on the skin is a common finding.
PTEN mutation has been associated with Bannayan-Riley-Ruvalcava syndrome, an autosomal dominant condition that presents with macrocephaly, genital lentiginosis (speckled penis), and GI polyps. A subset of patients may develop arteriovenous anomalies (arteriovenous malformations and arteriovenous fistulae).
KRIT1 mutation is an autosomal dominant condition associated with cavernous malformation in the brain (venous malformation, no fast-flow component). Affected patients are at risk for cerebral hemorrhage. Cutaneous manifestations are hyperkeratotic vascular malformations (slow-flow malformations).
CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies/scoliosis syndrome) syndrome can occur as a result of a mutation in PIK3CA. It is an overgrowth syndrome where vascular malformations can also occur. Patients with CLOVES syndrome should have a spinal MRI to screen for CNS AVM. They may also have other slow-flow vascular malformations.
A 6-month-old infant is brought to the clinic for evaluation of an expanding vascular cutaneous lesion that partially obstructs the visual axis. The presence of which of the following histologic markers is most likely to confirm the diagnosis of infantile hemangioma in this patient?
A) Fibroblast growth factor receptor 3 (FGFR-3)
B) Glucose transporter 1 (GLUT-1)
C) Transforming growth factor beta (TGF-B)
D) Tumor necrosis factor 1 (TNF-1)
E) Vascular endothelial growth factor (VEGF)
The correct response is Option B.
GLUT-1 is a specific marker for infantile hemangioma and is often used by pathologists to confirm the diagnosis.
VEGF and TGF-B are incorrect, because while these markers may often be present in hemangiomas, they are not as specific as GLUT-1 in confirming the diagnosis of hemangioma.
Staining for FGFR-3 is not routinely used in confirming the diagnosis of hemangioma. FGFR-3 mutations are implicated in a number of syndromes, including Muenke syndrome, epidermal nevus, and achondroplasia.
Staining for TNF-1 is also not routinely used in confirming the diagnosis of hemangioma.
A 7-month-old female infant is brought to the office because of a large mass on the left side of the neck. Her parents report that the mass has been present since birth and has remained consistent proportionately in size with the child’s growth. It has become firmer after a recent upper respiratory tract infection. Examination shows an active child in no distress. The mass measures 3 × 2 cm at the child’s left mandibular body and angle going down into the upper neck. It is easily compressible, has no pulse, and causes no pain. Which of the following is the most appropriate next step?
A) Admission of the infant and propranolol therapy
B) Angiography and injection of a sclerosing agent
C) CT angiography
D) Fine-needle aspirate biopsy
E) MRI
The correct response is Option E.
Differential diagnosis for congenital head and neck mass in a child includes malignancy, branchial remnants, and malformations. History and physical examination suggest a vascular malformation vs. malignancies. Due to the non-emergent nature of the mass, further imaging in the form of an MRI will help elucidate the nature of the mass, specifically to see whether it is a lymphatic malformation or a venous-lymphatic malformation. MRI will also assist in demonstrating which deeper tissues are involved, such as the parotid and the neck vessels. Invasive measures which are also treatment may eventually be required; however, at this time, there is no indication for urgent treatment in the form of angiography and either embolism or sclerosis. Propranolol currently does not have a role in treatment of vascular malformations, although it does have a role in hemangioma management. CT angiography can help define whether it is an arteriovenous malformation; however, clinical examination puts that further down the differential.
A 2-month-old female infant is brought to the office for evaluation of a hemangioma of the right mid cheek that has been enlarging progressively since 3 weeks of age. Physical examination shows a 1-cm-diameter and 1-cm raised lesion. Which of the following is the most appropriate management at this time?
A) Intralesional steroid injection
B) Surgical resection
C) Systemic sirolimus therapy
D) Systemic steroid therapy
E) Observation
The correct response is Option E.
Hemangiomas are proliferative lesions that occur most often in the first weeks of life and then proceed into a proliferative phase. Involution and spontaneous regression occur for most lesions. The lesions frequently occur on the face, scalp, chest, and back but can occur on the extremities as well. The indications for treatment are related to symptoms or secondary effects such as: bleeding/ulceration, visual obstruction, and impingement on the mouth prohibiting proper feeding. Small lesions without symptoms should be observed and resolution is anticipated. However, if treatment is required, the options include intralesional or systemic steroids, systemic propranolol therapy, and surgical resection. If propranolol is used, it must be initiated cautiously with inpatient observation due to risks of hypoglycemia and bradycardia.
Sirolimus has been found to be helpful for complex lymphatic and vascular malformations. It is not indicated for hemangioma treatment.
A 3-month-old male infant is brought to the office for evaluation of a 10 × 10-cm purple lesion of the right thigh that was present at birth. Medical history includes nosebleeds. On physical examination, bruising over the trunk is noted. Complete blood cell count shows thrombocytopenia. Which of the following is the most likely diagnosis?
A) Arteriovenous malformation
B) Capillary malformation
C) Congenital hemangioma
D) Infantile hemangioma
E) Kaposiform hemangioendothelioma
The correct response is Option E.
The most likely diagnosis is kaposiform hemangioendothelioma, which is a vascular tumor that is usually present at birth. The lesion can cause Kasabach-Merritt phenomenon: extreme thrombocytopenia (<25,000/mm3) from platelet trapping within the tumor which leads to spontaneous bleeding and bruising. Treatment is either vincristine or rapamycin. Infantile hemangioma, congenital hemangioma, capillary malformation, and arteriovenous malformation do not cause Kasabach-Merritt phenomenon or any other type of coagulopathy.
A 12-year-old boy has had the lesion of the right index finger shown in the photograph since birth. The lesion has been growing in proportion to his overall growth. On physical examination, there is no thrill or bruit. Which of the following is the most likely diagnosis?
A) Arteriovenous malformation
B) Hemangioma
C) Kaposiform hemangioendothelioma
D) Lymphatic malformation
E) Port-wine stain
The correct answer is option D.
In 1982, Mulliken and Glowacki proposed a binary classification system for vascular anomalies based on pathologic features. This system divides vascular anomalies into two primary biological categories: 1) vasoproliferative or vascular neoplasms and 2) vascular malformations.
Vasoproliferative neoplasms, such as hemangioma and Kaposiform hemangioendothelioma, have increased endothelial cell turnover (i.e., they proliferate and undergo mitosis) because they are neoplasms. Vascular malformations do not have increased endothelial cell turnover. Instead, vascular malformations are structural abnormalities of the capillary, venous, lymphatic, and arterial systems that grow in proportion to the child.
The lesion shown in the photographs grew in proportion to the child; therefore, it is a malformation, not a vasoproliferative neoplasm. Given the absence of a bruit or thrill, it is unlikely to be an arteriovenous malformation; therefore, a slow-flow lesion such as a lymphatic malformation is the most likely diagnosis.
Although a port-wine stain is a type of venous malformation, it is characterized by its very superficial location, which causes the skin to be discolored red (hence the name). Such findings are not present in the photographs shown.
A 4-month-old male infant is brought to the office because of a rapidly enlarging mass in the eyebrow region. The patient’s mother says she first noticed the lesion at 1 month of age and that it was not present at birth. A photograph is shown. Treatment with administration of propranolol is planned. Which of the following adverse effects is most likely in this patient?
A) Adrenal failure
B) Decrease in height
C) Hypertension
D) Hypoglycemia
E) Spastic diplegia
The correct response is Option D.
First-line treatment of a small problematic infantile hemangioma is intralesional corticosteroid (triamcinolone 3 mg/kg). If the tumor is too large to inject, then oral corticosteroid (prednisolone 3 mg/kg daily) or propranolol is initiated. Interferon is no longer used to treat infantile hemangioma because it may cause spastic diplegia when administered to infants.
The common side effects of propranolol include gastrointestinal effects (vomiting, diarrhea, and constipation), rash, fatigue, and hypersomnia. Severe side effects may include bradycardia, hypotension, chest pain, shortness of breath, bleeding, bronchospasm, and glaucoma. In pediatric patients, propranolol has been associated with hypoglycemia that may occur without the characteristic jitteriness.
Proliferating hemangiomas should not be treated with pulsed-dye laser therapy because accelerated involution does not occur, and patients are at risk for ulceration, pain, bleeding, hypopigmentation, and scarring. The pulsed-dye laser is indicated, however, to treat residual telangiectasias after the tumor has involuted.
Corticosteroid complications (e.g., adverse neurodevelopment, aseptic necrosis of the femoral head, diabetes mellitus, osteoporosis, adrenal insufficiency, cataracts, glaucoma, infection, gastric irritation) have not been observed in patients treated with corticosteroid for infantile hemangioma. Although increased blood pressure has been observed, the clinical significance of this is unclear, and no adverse effects have been reported. Twenty percent of infants develop a temporary cushingoid appearance that disappears during tapering of the medication. Approximately one third of infants exhibit decreased gain in height but return to their growth curve by 24 months of age.
A 3-year-old boy is brought to the office because of recurrent swelling, discoloration, and occasional discomfort of the right forearm. Discoloration and swelling have been present since birth, but these features have become more pronounced with growth and are exacerbated by limb dependency. A photograph is shown. Which of the following is the most appropriate initial treatment in this patient?
A) Interferon alpha therapy
B) Propranolol therapy
C) Reassurance that the condition will resolve with time
D) Sclerotherapy
E) Systemic corticosteroid therapy
The correct response is Option D.
The lesion shown is a venous malformation. Unlike infantile hemangioma, these lesions are present at birth and grow proportionately with the child, and therefore, cannot be expected to resolve over time. Venous malformations can become more symptomatic with growth and swelling or symptoms are exacerbated by dependency. In addition, rapid swelling and pain can result from phlebothrombosis (clotting) in the anomalous venous channels. The most effective treatment for symptomatic lesions is sclerotherapy. Operative excision is generally reserved for focal lesions or those with significant functional effects; because the lesions involve critical tissues and are poorly circumscribed, operative excision is rarely curative. The other options presented have been used to treat infantile hemangioma, but have not demonstrated effectiveness for venous, arteriovenous, or lymphatic malformations.
A 7-year-old boy is evaluated because of capillary malformations in the right leg and thigh, which have been present since birth. Physical examination shows venous varicosities over the anterior leg and medial thigh. Girth of the affected lower limb is increased compared with the unaffected limb. Duplex imaging discloses no sign of arteriovenous fistulae. This patient is at greatest risk for which of the following conditions?
A) Chondrosarcoma
B) Disseminated intravascular coagulation
C) High-output cardiac failure
D) Limb-length discrepancy
E) Pathologic fracture
The correct response is Option D.
The presence of capillary malformations, varicosities, and limb hypertrophy paired with the absence of arteriovenous (AV) fistulae is classic for Klippel-Trénaunay syndrome. Up to 67% of patients with Klippel-Trénaunay syndrome will exhibit limb-length discrepancy, most commonly with the affected limb being hypertrophic.
Pathologic fractures may occur through enchondromas found in Maffucci syndrome. Since the lesions have been present since birth and the child is young, presentation is less consistent with Maffucci syndrome, which presents in adolescence in roughly 80% of patients. These enchondromas also hold a 15 to 30% risk for malignant transformation to chondrosarcoma.
High-output cardiac failure is a feature of vascular malformations that include AV fistulae; the classic example is Parkes-Weber syndrome.
Disseminated intravascular coagulation can result in life-threatening thrombocytopenia. Referred to as Kasabach-Merritt syndrome, this finding is more common in abnormalities such as kaposiform hemangioendothelioma.
An otherwise healthy 4-year-old boy is brought to the office for evaluation of a large scalp hemangioma. A photograph is shown. The family has requested removal of the hemangioma before he enters school. Which of the following is the most appropriate management in this patient?
A) Deferral of surgery for 2 years
B) Excision and skin grafting
C) Single-stage excision and closure
D) Staged excision and closure
E) Tissue expansion
The correct response is Option C.
Although the hemangioma shown is sizable, judicious mobilization of the scalp and galeal scoring allow the resultant defect to be easily closed without resorting to delayed rotational flaps, tissue expanders, or skin grafting. Single-staged excision and linear closure is the simplest, most predictable manner of closing small to intermediate-sized scalp defects such as the one in the patient described. The maximum defect using this technique is not well defined, but at least one series has demonstrated successful primary closure of defects in infants of up to 7 cm without using the other alternatives listed or tissue expansion. Delaying the resection for another 2 years might be productive in a younger child, but further involution is unlikely in a 4-year-old. Staged excision is possible, but unnecessary for this lesion; moreover, repair along the edge of the friable hemangioma can lead to wound problems.
A 22-year-old woman comes to the office because of oral bleeding and a 20-year history of a radiologically defined arteriovenous malformation. Embolization and resection of the tumor are planned. Which of the following factors is most likely to be associated with an increased risk for recurrence?
A) Enlargement of the malformation
B) Patient age
C) Patient gender
D) Quiescence of the malformation
E) Ulceration
The correct response is Option E.
According to the Children’s Hospital of Boston’s experience with arteriovenous malformations, the Schobinger stage of the lesion is most important when considering the individual’s recurrence risk for these lesions. In their experience, lesion recurrence was more associated with advanced Schobinger staging than with quiescent lesions, whether these were treated with embolization alone or embolization followed by resection.
Enlargement of the malformation describes a Schobinger Stage I lesion, which has the lowest risk for recurrence in the Boston Children’s series. The presence of these lesions, while concerning to parents, typically has a recurrence risk of 80% with embolization alone and 21% with embolization followed by resection.
Patient sex, age, and lesion location did not correlate with lesion recurrence in the Boston Children’s series.
Quiescence of the malformation represents a Schobinger Stage I lesion, which is the lowest Schobinger stage description among the options listed. This stage lesion has a recurrence risk of 99% with embolization alone and 81% with embolization followed by resection.
A 12-year-old girl has a 7 × 7-cm venous malformation of the thigh that is slowly enlarging and causing pain. The lesion involves the skin, subcutaneous tissue, and muscle. Which of the following is the most appropriate first step in management?
A) Corticosteroid therapy
B) Embolization of the lesion
C) Propranolol therapy
D) Resection of the lesion
E) Sclerotherapy
The correct response is Option E.
The most appropriate first step in management is sclerotherapy. First-line intervention for a large symptomatic venous malformation is sclerotherapy. Sclerotherapy is the injection of an inflammatory substance into a lesion which causes endothelial damage, fibrosis, and shrinkage of the malformation. Sclerotherapy is more effective and less morbid than resection. Propranolol and corticosteroids are treatment options for a problematic infantile hemangioma, but have no efficacy for vascular malformations. Embolization is first-line intervention for an arteriovenous malformation, and is not a treatment option for venous malformation. Resection is second-line therapy for a large problematic venous malformation. Extirpation can cause significant morbidity (i.e., bleeding, nerve injury, infection, wound breakdown). In addition, excision leaves a cutaneous scar and recurrence is common because a venous malformation can rarely be completely removed.
An 8-month-old male infant is evaluated for a lip mass. A photograph is shown. Treatment with propranolol is initiated. Which of the following adverse effects is most important to monitor?
A) Drooling
B) Hypertension
C) Hypoglycemia
D) Lethargy
E) Tachycardia
The correct response is Option C.
Vascular anomalies are a common source of pediatric morbidity, potentially resulting in cosmetic and functional abnormalities. Two main categories of lesions are hemangiomas and vascular malformations. Vascular malformations are generally named after the vessel types that are involved and are further subdivided into low-flow and high-flow lesions. Low-flow lesions include capillary, lymphatic, venous, and mixed lesions. High-flow lesions include arteriovenous malformations. Both high- and low-flow vascular malformations are almost always present at birth and either grow commensurately with the child or slowly enlarge over a period of years.
Treatment is guided by the degree of functional impairment, and many require surgical therapy.
Hemangiomas are rarely present at birth. They tend to appear between 2 and 8 weeks of life and grow rapidly. These lesions comprise of rapidly proliferating endothelial cells and follow a predictable clinical course. They usually undergo an aggressive proliferative phase that lasts several months before reaching a plateau phase, when they grow very little. Finally, at about 1 year of life, hemangiomas begin a process of spontaneous involution which may last for up to 4 years. Completion of involution does not mean complete involution, and many hemangiomas may leave cosmetically unacceptable residua. Hemangiomas found in inconspicuous areas can be observed. Those noted in cosmetically or functionally sensitive areas require more aggressive treatment. Treatment options have included topical, intralesional, and systemic corticosteroids, laser treatment, interferon-alfa, and surgical resection. However, each of these treatments carries marked risks and still does not provide consistent, reliable success.
In June 2008, a French group reported rapid resolution of hemangiomas in children treated with propranolol for pediatric cardiomyopathy. This serendipitous finding led to a landmark paper and has resulted in a paradigm shift in the clinical care of these patients. Many groups have now confirmed their findings with very promising results. The use of propranolol for hemangiomas remains off-label, but there are centers of excellence with institutional review board protocols in place to further study its clinical effects. Recommended doses vary but frequently start at 0.5 mg/kg/day divided three times daily and slowly titrated over 1 to 2 weeks to 2 mg/kg/day. Most centers recommend obtaining pretreatment electrocardiography (ECG); if normal, then therapy can be initiated on an outpatient basis. If the ECG is abnormal, then pretreatment cardiology evaluation is warranted. Dose titration, blood pressure, and heart rate are checked regularly. The most common adverse effect is lethargy. Other adverse effects include hypoglycemia, hypotension, and bradycardia. All children drool, and this has not been reported as a complication of propranolol administration. Hypoglycemia can be a potentially life-threatening complication that can also cause seizures. Parents are counseled to give food with medication. Many centers regularly check blood glucose.
An image of a child with upper lip hemangioma treated with propranolol for 14 months is shown.
A male newborn has a large macrocystic lymphatic malformation of the neck. Which of the following is the most appropriate first step in management?
A) Embolization of the lesion
B) Prednisolone therapy
C) Propranolol therapy
D) Resection of the lesion
E) Sclerotherapy
The correct response is Option E.
The most appropriate first step in management is sclerotherapy. Lymphatic malformation is a type of vascular anomaly that results from aberrant formation of lymphatic vessels. Lymphatic malformation most commonly affects the neck and axilla. There are two major types of lymphatic malformations: macrocystic and microcystic. Macrocystic lesions have cysts large enough to be cannulated by a needle and treated with sclerotherapy. Microcystic lesions have cysts that are too small for treatment with sclerotherapy. First-line management of macrocystic lymphatic malformations is sclerotherapy, which is the injection of an inflammatory substance into the lesion that causes scarring of the cyst walls together and shrinkage of the malformation. The most commonly used sclerosants are doxycycline, sodium tetradecyl sulfate, and ethanol.
Prednisolone and propranolol are drugs used to treat problematic proliferating infantile hemangioma, and have no efficacy for vascular malformations. Embolization is used to treat arteriovenous malformations and involves delivering a substance through an artery to occlude blood flow.
Resection is second-line therapy for a problematic macrocystic lymphatic malformation. Extirpation can cause marked morbidity (i.e., bleeding, nerve injury, infection, wound breakdown). In addition, excision leaves a cutaneous scar and recurrence is likely because a lymphatic malformation can rarely be completely removed. Resection is considered if a lesion remains symptomatic following sclerotherapy, or for microcystic lymphatic malformations that cannot be sclerosed.
An otherwise healthy 68-year-old man comes to the office because of an enlarging mass over the right ear for the past 30 years. A photograph is shown. He had no prior treatment of the mass. MRI confirms the diagnosis of arteriovenous malformation. In the past 3 months, he had bleeding from the mass requiring hospital admission and blood transfusions. Bleeding is controlled after prolonged direct pressure. Which of the following is the most appropriate management for this lesion?
A) Corticosteroid therapy
B) Laser therapy
C) Resection
D) Sclerotherapy
E) Observation
The correct response is Option C.
The most appropriate treatment for this lesion is radical resection, with the goal of eradicating the lesion. Although the lesion is prone to recurrence, this approach maximizes the chances for a cure. This patient has recurrent bleeding and is at risk for death due to exsanguination. Observation is not acceptable in this otherwise healthy 68-year-old. Laser therapy is futile as it will only affect superficial dermal structures, and this lesion clearly involves large vessels and deeper tissues. Corticosteroid therapy is appropriate for management of infantile hemangioma but has no role in the treatment of arteriovenous malformations. Sclerotherapy is not indicated in this patient.
A 7-month-old male infant is referred because of the lesion shown in the photograph. Ophthalmologic examination shows mild astigmatism, for which he was being treated with corrective lenses. No amblyopia is noted. Which of the following is the most appropriate next step in management?
A) Administration of propranolol 2 mg/kg/day in divided doses
B) Magnetic resonance angiography of the brain
C) Pulsed-dye laser (595 nm) therapy
D) Surgical resection
E) Observation only
The correct response is Option A.
The patient described has focal hemangioma. Medical therapy is the first line of treatment in this case when there are minimal ophthalmologic findings. There is a subset of periorbital hemangiomas for which surgical resection is indicated: well-localized hemangioma amenable to resection, greater than 2 diopters of astigmatism, visual obstruction, or nonresponsive to medical therapy. In a study by Arneja and Mulliken, the best ophthalmologic improvement occurred when the hemangioma was resected at less than age 3 months.
Laser therapy can treat discoloration only and will not decrease the bulk of the lesion.
Surgical debulking is indicated if the hemangioma does not clinically respond (softer, lightening in color, no improvement in/worsening of astigmatism).
A 2-year-old boy is brought to the office because of an infantile hemangioma of the right lower lip. His parents say that he frequently drools and has difficulty in phonation. On examination, the lesion measures 1 cm in width and distorts the surrounding tissues. A photograph is shown. Which of the following is the most definitive treatment?
A) Bleomycin
B) Oral prednisolone
C) Propranolol
D) Pulsed-dye laser therapy
E) Surgical resection
The correct response is Option E.
The lip is a favorable area for early surgical intervention for infantile hemangiomas and vascular malformations. The amount of lip tissue that can safely be resected allows for primary closure in the majority of cases. The tumors often distort the local tissues and are “additive” to the amount of available tissue, so resection typically allows for safe linear closure along the vertical resting tension lines. Reconstruction of other facial areas, such as the cheek and eyelids, is usually more complicated, and nonoperative measures may be a better first line of treatment. Surgical treatment is further warranted in this case by the functional impact of the lesion.
Pulsed-dye lasers are effective treatment for thin vascular lesions. Multiple treatments are needed, they can be painful, and some residual scarring is usually left after resolution.
Intralesional bleomycin is another option for local control, though multiple treatments, often with anesthesia, are required.
Propranolol therapy has recently come to the forefront of hemangioma treatment. Oral treatment is preferred at 1 mg/kg three times daily. Dramatic responses are seen within 24 hours of starting treatment, and significant resolution occurs over a course of weeks. Contraindications may include bronchospasm, significant cardiac abnormalities, or cerebrovascular abnormalities. Pretreatment MRI and pediatric medical management may help determine suitability for treatment. Propranolol is most effective for early lesions that are in a proliferative growth phase. In this case, by 2 years, the lesion is likely done with growth and in a stable to involuting phase.
Oral prednisolone is also effective at treating hemangiomas and is a common treatment option. Hyperglycemia and cushingoid features are temporary drawbacks. Given the symptoms in this case and the relative ease of surgical resection, medical therapies such as steroids and beta blockers would be secondary choices. In asymptomatic patients with minimal disfigurement, observation alone may be the preferred first line of treatment.
A 7-month-old female infant is brought to the office because of a large, rapidly growing vascular tumor of the mandible. Physical examination shows a reddish purple lesion with a centrifugally advancing rim of ecchymosis. Initial platelet count is below 10,000/mm3. Administration of which of the following is the most appropriate initial treatment?
A) Imiquimod
B) Interferon alfa-2a
C) Prednisone
D) Propranolol
E) Vincristine
The correct response is Option E.
Kaposiform endothelioma is a malignant vascular tumor which is often associated with Kasabach-Merritt phenomenon. It is generally seen in infancy. It can be seen in the trunk and extremities. The skin overlying the tumor is deep red-purple, tense, and shiny, which is pathognomonic for kaposiform endothelioma. These patients typically have profound thrombocytopenia. As this is a malignant tumor, the primary mode of therapy is chemotherapy, sometimes combined with surgical resection. Vincristine is considered first-line therapy and has supplanted interferon alfa-2a due to its efficacy and decreased risk of major side effects. Interferon alfa-2a has a high risk of spastic diplegia, which is irreversible.
Corticosteroids are not considered a first-line therapy for kaposiform endothelioma.
Propranolol and imiquimod are not yet widely studied in kaposiform endothelioma.
An otherwise healthy 3-month-old female infant is admitted to the pediatric intensive care unit because of progressive difficulty breathing for the past 3 weeks. Examination shows mild stridor. Cultures are negative for acute viral or pulmonary illness. A photograph is shown. Administration of which of the following is the most appropriate treatment?
A) Imiquimod
B) Interferon alfa-2a
C) Propranolol
D) Vincristine
The correct response is Option C.
In the absence of other pulmonary disease, the stridor is most likely being caused by the hemangioma which is present in the beard distribution. Hemangiomas can be present in the airway as well as the surrounding soft tissue.
In some centers, propranolol has supplanted corticosteroids as the first-line medical therapy for complicated hemangiomas. Currently, there is no universally accepted protocol for propranolol administration. Propranolol is initially given intravenously and then converted to oral dosing. Blood pressure and heart rate monitoring must be done on an outpatient basis, generally by a pediatric cardiologist. Treatment is typically 2 to 6 months.
Systemic corticosteroids are still considered effective therapy. Corticosteroids generally require prolonged therapy to prevent rebound effect. It can take upwards of 2 years for treated patients to catch up in growth after prolonged corticosteroid therapy in infancy. Treatment is typically upwards of 9 to 12 months.
Vincristine is a first-line treatment for kaposiform hemangioendothelioma. It has supplanted interferon alfa-2a, which is avoided due to the risk of spastic diplegia.
Topical imiquimod is still considered an experimental therapy.
Which of the following syndromes is most likely in a patient with venous malformations?
A) Kasabach-Merritt
B) Maffucci
C) Osler-Weber-Rendu
D) Parkes-Weber
E) Sturge-Weber
The correct response is Option B.
Maffucci syndrome is associated with venous malformations and multiple enchondromas. It can be associated with malignant chondrosarcomas, and intracranial tumors occur in 20% of patients.
Kasabach-Merritt syndrome is associated with a hemangioma or with diffuse hemangiomatosis. The hallmark is profound thrombocytopenia. The child can present with petechiae, ecchymosis, and bleeding.
Sturge-Weber syndrome is associated with facial capillary malformations (port-wine stain) distributed in a trigeminal nerve pattern, most often the first and second divisions of the nerve. Vascular malformations on the ipsilateral side can be found deep to the leptomeninges, and seizure disorders are common.
Parkes-Weber syndrome is a variant of Klippel-Trenaunay syndrome (patchy port-wine stains of the lower extremity with lymphatic/venous malformations and hypertrophy). However, in Parkes-Weber syndrome, there are arteriovenous fistulae present.
Osler-Weber-Rendu syndrome is also called hereditary hemorrhagic telangiectasia syndrome. It is inherited in an autosomal dominant fashion. The telangiectasia is located on the face, tongue, lips, nasal and oral mucosa, conjunctiva, and hands/nails. The lesions often emerge later in life.
A 2-year-old girl is evaluated because of a rapidly enlarging mass in the left forearm that her parents first noticed 6 months ago. Physical examination shows a 3-cm firm mass in the volar aspect of the left forearm. Passive extension of the fingers and wrist elicits pain. MRI shows a mass within the deep forearm compartment suggestive of a vascular lesion. Which of the following is the most appropriate initial step in treatment?
A ) Application of a compression garment
B ) En bloc surgical resection
C ) Oral administration of prednisone
D ) Percutaneous sclerotherapy
E ) Pulsed-dye laser therapy
The correct response is Option C.
This rapidly growing vascular lesion, not present at birth, most likely represents an intramuscular hemangioma. These vascular anomalies can pose diagnostic challenges because of their depth and lack of cutaneous changes characteristic of the more common infantile hemangioma. The treatment algorithm, however, parallels that of other hemangiomas. In this case, the first line of therapy would be medical treatment with either propranolol or corticosteroids.
Compression garments may be useful in managing arteriovenous or lymphatic malformations of the extremities. In this patient, with pain caused by increased intracompartmental volume, compression may exacerbate the symptoms.
En bloc surgical resection is reserved for lesions that fail to respond to medical management or that compromise function. In the case of upper extremity lesions, this would be indicated most commonly for refractory pain or nerve compression.
Percutaneous sclerotherapy can successfully treat low-flow arteriovenous malformations and lymphatic malformations. It would not be a first-line intervention for hemangioma.
Cutaneous arteriovenous malformations may be treated with pulsed-dye laser or other light-based therapies. Deep, intramuscular lesions without a cutaneous component will not be reached by these interventions.
A 5-year-old boy is brought to the office because of a pulsatile mass in the volar forearm. His parents say the mass first appeared 10 days ago. Physical examination shows a palpable, pulsatile mass at the radial artery. CT angiography shows a true aneurysm of the radial artery. Which of the following is the most likely cause of this patient’s condition?
A ) Arterial catheterization
B ) Crush injury
C ) Infective embolism
D ) Kawasaki disease
E ) Regional block with administration of a local anesthetic agent
The correct response is Option D.
There are two types of pathologic arterial dilations: ?false,? or pseudoaneurysms, and true aneurysms.
Pseudoaneurysms typically result from some form of acute external or internal insult that causes rupture or laceration of the endothelium and bleeding. All layers of the artery can be involved, or it can be due to a dissection between layers. The false or pseudoaneurysm is caused by an acute injury to the endothelial layer of an otherwise normal artery, subsequent bleeding, clotting, and recanalization of the vessel. These arterial cul-de-sacs do have blood in them, but they do not have endothelial layers internally. Therefore, they are described as ?false? aneurysms.
Therefore, Options A, B, C, and E are not appropriate because those types of acute insults more typically cause pseudoaneurysms. A true aneurysm is an endothelial-lined widening of an artery that has all three layers of the vessel lining the aneurysm: endothelium, media, and adventitia. The true aneurysm typically has a more fusiform, dilated appearance, rather than the outpouching that typifies false aneurysms. True aneurysms can also result from trauma, but the trauma tends to be repetitive and blunt, rather than an acute, severe insult and a vessel rupture.
Kawasaki disease is a classic example of true aneurysm. In this disorder, arteriosclerosis is a common cause of true aneurysms. Hemophilia can lead to true and false aneurysms.
A 1-month-old male newborn is evaluated because of a proliferating 3-cm red lesion on the right cheek. The lesion was noticed 1 week after birth and has enlarged rapidly. No herald patches were seen at birth. No other abnormalities are noted. Which of the following findings is more suggestive of a hemangioma than a vascular malformation in this patient?
A) Absence of herald patch
B) Absence of neurologic findings
C) Gender
D) Location on cheek
E) Rate of growth
The correct response is Option E.
Hemangiomas are vascular tumors characterized by increased cellular proliferation. Classically, they exhibit rapid growth and slow regression. Vascular malformations are present at birth and grow slowly. Hemangiomas are the most common tumor of infancy. They occur at an incidence that is five times more common in girls and are more common in premature infants. Vascular malformations have an equal sex ratio. Multiple cutaneous hemangiomas may be present with extracutaneous sites, most commonly involving the parotid glands or the liver; nervous system involvement is rare. In 30 to 50% of cases, hemangiomas are preceded by a premonitory mark, such as a telangiectasis or a bruise-like patch (herald patch).
An otherwise healthy 2-year-old girl is brought to the office because her parents are concerned about the appearance of her upper lip (shown). They say that her lip was slightly overgrown at birth and that it has enlarged slowly. Physical examination shows a soft, painless, bluish lesion of the upper lip. Which of the following is the most likely diagnosis?
A) Congenital hemangioma
B) Infantile hemangioma
C) Kaposiform hemangioendothelioma
D) Pyogenic granuloma
E) Venous malformation
The correct response is Option E.
The most likely diagnosis is venous malformation. Venous malformation is a congenital lesion that enlarges slowly over time. Treatment involves either sclerotherapy or resection.
Congenital hemangioma is fully grown at birth. There are two types: rapidly involuting congenital hemangioma (RICH) and noninvoluting congenital hemangioma (NICH). RICH rapidly involutes postnatally and is usually fully regressed by age 12 months. Treatment is rarely necessary. NICH does not undergo involution; it remains the same size over the course of the patient’s lifetime and would not be enlarging at age 2 years. NICH is rarely problematic, but may be resected if it is causing a significant deformity.
Infantile hemangioma is usually noted 2 weeks after birth and enlarges rapidly over the first few months of life. By age 1 year, the tumor begins to regress and would be decreasing in size at age 2 years. Problematic lesions are treated with intralesional corticosteroid, oral prednisolone, or resection.
Kaposiform hemangioendothelioma is present at birth and does not increase in size. It is often large, superficial, and diffuse. It typically involves the trunk and extremities. Patients commonly have Kasabach-Merritt phenomenon (thrombocytopenia, bruising, and bleeding) as well. First-line treatment is administration of vincristine.
Pyogenic granuloma usually appears in early childhood as a rapidly growing, red lesion. Lesions are commonly small (less than 1 cm) and complicated by bleeding. Definitive treatment is excision.
A 6-month-old male infant is brought to the office for evaluation of a lesion of the right cheek. The lesion first appeared at 2 weeks of age as a 1-cm telangiectatic spot, and it has rapidly increased to 3 cm. Physical examination shows a raised, spongy mass. Which of the following is the most appropriate management at this time?
A) Oral administration of a corticosteroid
B) Pulsed-dye laser therapy
C) Subcutaneous administration of interferon
D) Surgical excision
E) Observation
The correct response is Option E.
Observation is the most appropriate management of the child with the nonulcerating, nonobstructive hemangioma described.
Hemangiomas are a vascular tumor of infancy. They are typically not present at birth but appear within the first few months of life. They undergo a proliferating phase of rapid growth in the first 3 to 6 months of life, followed by an involuting phase that can last up to 12 years of age but is completed most commonly by age 5 to 7 years. Finally, an involuted phase is reached with complete regression of the hemangioma, leaving some scar or discoloration in 50% of patients.
Diagnosis is often made by a complete history and physical examination. Hemangiomas should not be confused with venous malformations that are often present at birth. These malformations can maintain a consistent color and grow with the child. Doppler ultrasonography, CT scan, and MRI can be useful in diagnosis.
Given that most hemangiomas ultimately regress completely, most are managed appropriately with observation and reassurance of the family. Intervention is indicated to avoid morbidity and mortality from alarming hemangiomas. These include ulcerating hemangiomas (bleeding and infection), obstructing hemangiomas (sight, hearing, airway), and hemangiomas compromising hemodynamic stability. Local or systemic corticosteroids, interferon, the pulsed-dye laser, and surgical excision are treatment modalities in the armamentarium to treat hemangiomas.
A 1-year-old girl is brought to the office because of a 1-cm hemangiomaover the right brow and upper eyelid. The parents report that they first noticed the lesion shortly after birth and that it has enlarged since then. Results of ophthalmologic examination are normal bilaterally. Which of the following is the most appropriate management at this time?
A ) Patching of the contralateral eye
B ) Pulsed-dye laser therapy of the lesion
C ) Surgical resection
D ) Systemic and intralesionalinjection of a corticosteroid
E ) Observation
The correct response is E
The most appropriate action at this time is close observation with frequent vision and refractive examination by an ophthalmologist. Hemangiomasare the most common tumor of infancy, with a predilection for the head and neck and the upper eyelid. They are more common in females, usually noted in the weeks following birth, and are characterized by a rapid proliferative phase of 6 to 12 months. This phase is followed by a period of quiescence, then slow involution beginning the second year of life. Most hemangiomasare initially managed by observation. When a hemangiomainterferes with the visual axis or airway, medical or surgical intervention may be indicated.
Periocularhemangiomasmay permanently affect vision by causing ptosis of the eyelids, resulting in visual field obstruction, strabismus, or anisometropia(a condition in which the two eyes have unequal refractive power). Each of these may, in turn, result in astigmatism, amblyopia (impairment of vision without an organic cause within the eye, in this case, caused by deprivation of visual stimuli centrally), or blindness. As this particular lesion is not interfering with the child’s vision and, based on her age, is likely to enter a quiescent phase, observation is the most reasonable course of action. Cosmetic and functional results of spontaneous involution, particularly for smaller lesions, are often superior to those obtained by invasive treatment. Systemic corticosteroids can have multiple side effects, and intralesionalcorticosteroids carry the risk of blindness secondary to central retinal artery occlusion. Patching of the contralateral eye is usually performed after debulkingof a hemangiomato treat amblyopia.
A 14-year-old boy is referred by his pediatrician for evaluation because of a 2-year progressive enlargement of the right side of the face. History includes capillary malformation since birth and seizures. Physical examination shows enlargement of the soft tissues and the maxilla on the right and macular capillary staining of the forehead, eyelid, and cheek. Which of the following syndromes is the most likely diagnosis?
A ) Cobb
B ) Fibrous dysplasia
C ) Klippel-Tranaunay
D ) Nevus flammeusneonatorum
E ) Sturge-Weber
The Correct response is E
Sturge-Weber syndrome is characterized by capillary malformations in the distribution of the ophthalmic or the maxillary division of the trigeminal nerve. It may be unilateral or bilateral. Often there is also gradual enlargement and hypertrophy of the cheek, lip, and maxilla, and occasionally there is gradual enlargement and hypertrophy of the mandible. MRI may show additional vascular anomalies of the leptomeningesand choroid plexus.
Cobb syndrome consists of a capillary malformation in the midline scalp region overlying an encephaloceleor in the skin posterior to an area of dysraphismin the cervical or lumbosacral spine.
Fibrous dysplasia is an overgrowth syndrome of bones that is caused by abnormal proliferation of bone-forming mesenchyme. It does not involve soft-tissue hypertrophy nor is it associated with vascular malformations. Albright syndrome is a specific variety of polyostoticfibrous dysplasia and includes endocrine abnormalities and cafe-au-laitspots.
Klippel-Trenaunaysyndrome is a capillary-lymphatic-venous malformation typically involving hypertrophy of the extremities and sometimes the thorax of one side of the body. It does not involve the head and neck. The skin surface shows deep red staining with hemolymphaticvesicles. A pathognomonic feature of this condition is the presence of the embryonallateral vein of Servellein the lower extremity.
Parkes-Weber syndrome is similar to Klippel-Trenaunaybut is confined to an upper or lower extremity. Overgrowth of the extremity is characteristic along with microscopic arteriovenous
fistulas, and unlike Klippel-Trenaunay, lymphatic anomalies are rare. It does not involve the head or neck.
Nevus flammeusneonatorumis an entity that behaves more like a hemangiomaand not a vascular malformation in that it is usually gone or faded by 1 year of age. It is typically located on the upper face and posterior neck but is not associated with soft-tissue or bony hypertrophy.
An 18-year-old man is evaluated because of the facial mass shown. The mass was present at birth as a faint red patch of skin. Throughout his life, the mass has continued to enlarge, change color, and has become increasingly painful. Examination of a specimen obtained on biopsy 2 years ago ruled out malignancy. Gadolinium-enhanced MRI shows high vascular flow in and around the lesion. Which of the following is the most likely diagnosis?
A ) Arteriovenousmalformation
B ) Infantile hemangioma
C ) Lymphatic malformation
D ) Sturge-Weber syndrome
E ) Venous malformation
The correct response is A
The clinical history and MRI findings strongly suggest that the condition described is an arteriovenousmalformation. When there is cutaneous involvement, these anomalies can be observed at birth as a faint area of pink discoloration. Over time, there is a tendency for gradual expansion of the malformation to involve adjacent tissues and to become warm and painful. They are considered “high flow” lesions, implying a significant arterial component to the mass.
Most vascular anomalies can be diagnosed clinically. Gadolinium-enhanced MRI can be useful to determine the extent and nature of the vascular components in the lesion. In spite of significant advances in the understanding and classification of vascular anomalies, many malformations are still mislabeled as hemangioma. This type of malapropism is not
inconsequential, as the natural history and recommended interventions for these distinct lesions are very different. Infantile hemangiomais a vascular tumor that typically appears shortly after birth, grows aggressively over the first year of life (proliferation), and subsequently regresses (involution). Intervention is rarely indicated, except when there is functional impairment or to facilitate aesthetic improvement after involution. In contrast, vascular malformations are present at birth, tend to enlarge gradually over time, and do not regress. Treatment of these lesions depends on the type of malformation and includes sclerotherapywith or without resection for lymphatic and venous malformations, as well as selective embolization with or without resection in arteriovenousmalformation.
Infantile hemangiomais incorrect for the reasons described above. Lymphatic and venous malformations are present at birth and enlarge with growth, but they do not have significant arterial components, and they appear as “low flow” lesions on gadolinium-enhanced MRI. Sturge-Weber syndrome is the associated findings of capillary malformation in the V1 distribution of the trigeminal nerve, leptomeningealvascular malformations, glaucoma, and seizure disorder.
A 5-year-old boy is brought to the office because of a 2-month history of pain and diffuse swelling in the left leg. His parents report that his left foot has always been larger than his right foot. Physical examination shows purple macular lesions over the majority of the lateral left leg. Circumference of the left leg is nearly twice that of the right leg. No other abnormalities are noted. MRI of the left leg shows numerous tortuous, low-flow vessels. There is no evidence of arteriovenousfistulas. The patient is at greatest risk for which of the following?
A ) Deep venous thrombosis
B ) Heart failure
C ) Pathologic fracture
D ) Seizure
E ) Thrombocytopenia
The correct response is A
In the patient described with hallmark findings for Klippel-Trenaunaysyndrome (KTS), the major risks relate to deep venous thrombosis and pulmonary embolism. Compression therapy may alleviate the pain and assist in venous return. Surgical interventions for the mixed vascular/lymphatic malformations have limited success and have been associated with increased incidence of deep venous thrombosis.
Heart failure can occur in high-flow vascular malformations, which often demonstrate significant arteriovenousfistulas. Patients with Parkes-Weber syndrome may have symptoms similar to KTS; however, KTS lacks the arteriovenousfistulas.
Patients with Maffuccisyndrome manifest multiple cutaneous hemangiomasand extremity enchondromas. The risk of pathologic fracture is increased at sites of cortical thinning around the enchondromas.
Seizures are associated with Sturge-Weber syndrome; in the absence of a capillary malformation (port-wine stain) involving the V1 distribution of the face, Sturge-Weber syndrome would not be in the differential diagnosis.
Thrombocytopenia occurs either by sequestration, as in kaposiformhemangioendothelioma, or because of consumption in low-flow vascular malformations such as KTS. In the consumptive conditions, platelet counts are depressed (50,000-150,000 µL) but not life-threatening. Profound thrombocytopenia (<25,000 µL), the Kasabach-Merritt phenomenon, is not associated with the clinical scenario of KTS.
Sturge-Weber syndrome is characterized by which of the following vascular anomalies?
A ) Arteriovenousmalformation
B ) Capillary malformation
C ) Hemangioma
D ) Lymphatic malformation
E ) Venous malformation
The correct response is B
Capillary malformations are slow-flow vascular malformations that classically were referred to as “port-wine stains.” Facial capillary malformations often occur in a dermatomaldistribution. In Sturge-Weber syndrome, the capillary malformation may involve V1, V2, and/or V3 dermatomes, with ipsilateralocular and leptomeningealvascular anomalies.
Arteriovenousmalformations are a combination of arterial and venous channels. MRI best documents the extent of involvement. The mainstay of management is embolization and surgical excision.
Hemangiomasare vascular tumors, not malformations. They grow rapidly, often within the first year of life, and regress slowly, often involutingby 5 years of age. Hemangiomastypically are observed and not treated unless they cause visual interference, auditory canal obstruction, airway blockage, or ulceration and bleeding. Treatment regimens include corticosteroids or interferon.
Lymphatic malformations are characterized as microcystic, macrocystic, or combined. Lymphatic malformations most commonly occur in the cervicofacialregion, axilla/chest, mediastinum,retroperitoneum, buttock, and perineum, and were classically referred to as “cystic hygromas.” Lymphatic malformations in the floor of the mouth and tongue present asmacroglossia, vesicles, and intermittent swelling. Lymphatic malformations may enlarge with infection.
Venous malformations are the most common type of vascular malformation. They are present at birth, slowly increase in size as the child grows, and are prone to thrombosis. Maffuccisyndrome includes exophyticcutaneous venous malformations, bony exostoses, and enchondromas. There is also a risk for malignant transformation.
The two major categories of vascular anomalies include tumors and malformations. Vascular tumors exhibit rapid growth with endothelial proliferation followed by regression.
Vascular malformations have a normal rate of endothelial cell turnover, are present at birth, and grow proportionately with the child.
A 3-year-old boy with Fitzpatrick type IV skin has had the capillary vascular anomaly shown since birth. Treatment with which of the following lasers is most appropriate for this patient?
(A) Argon-pumped tunable dye
(B) Erbium:YAG
(C) KTP
(D) Pulsed dye
(E) Q-switched ruby
The correct response is D
The target chromophorefor this capillary malformation isoxyhemoglobinin the ectaticvessels within the dermis. The three primary absorption peaks are 418 nm, 542 nm, and 577 nm. The flashlamp-pumped, pulsed-dye laser was specifically designed for vascular lesions with a wavelength of 585 nm. It provides selective photothermolysiswithout unwanted thermal damage and can be used in patients with light and dark skin tones. Additional treatments may be required especially in the centrofacialarea. Disadvantages include postoperative purpuraand transient dyspigmentation. Vesiculation, crusting, textural change, and scarring occur rarely.
The KTP laser has a wavelength of 532 nm. It does work well with telangiectasias; however, it has decreased tissue penetration and is not as effective as the pulsed-dye laser in treatment of port wine lesions. Also, the 532-nm wavelength is absorbed by melanin, which limits its use in patients with darker skin tones.
The erbium:YAG(2490-nm) and Q-switched ruby (694-nm) lasers are not targeting the oxyhemoglobinchromophoreand are used in other cutaneous applications.
The argon-pumped tunable dye laser can be used to treat capillary malformations. However, it causes nonspecific thermal damage with higher incidences of hypertrophic scarring, textural changes, and dyspigmentation.
An 18-year-old woman has had a pulsatile mass on the index finger of the right hand for the past two years. A photograph of the hand and corresponding angiograms are shown above. Which of the following is the most appropriate management?
(A) Embolization followed by ray amputation
(B) Embolization only
(C) Proximal ligation of the arterial vessels
(D) Ray amputation only
(E) Wide soft-tissue resection and reconstruction with a wraparound flap from the great toe
The correct response is A
This 18-year-old woman has a well-developed, high-flow arteriovenousmalformation of the index finger with diffuse soft-tissue involvement. The most appropriate management of this vascular malformation is preoperative embolization (as performed in patients with high-flow malformations of the head and neck). Preoperative embolization can facilitate excision, because thrombosis of the vessels can help define the true extent of the lesion. To this extent, preoperative embolization can help direct surgical excision intraoperativelyas well as limit blood loss.
Embolization alone is palliative but not curative. It may at best temporarily alleviate pain and increased temperature.
Proximal ligation of the arterial vessels is ineffective and will result in a rebound increase in vascularity of the arteriovenousmalformation.
Ray amputation alone is possible but is not the best functional alternative in this patient.
Because of the diffuse involvement of the soft tissues, adequate excision of this lesion would require deglovingor near deglovingof the index finger soft tissues. A great toe wraparound flap will not deliver sufficient soft tissue, and the functional result of any soft-tissue reconstruction of a deglovedindex finger will be functionally far inferior to that of ray amputation.
12-year-old girl has a recurrent painful mass on the volar distal aspect of the forearm that has been enlarging over the past three years. The mass was excised five years ago and recurred two years later. Magnetic resonance arteriogram (shown above) demonstrates a high-flow arteriovenousmalformation involving skin and subcutaneous tissue. Which of the following is the most appropriate ablative management?
(A) Amputation
(B) Embolization
(C) Laser
(D) Local excision
(E) Wide excision
The correct response is E
Because the arteriovenousmalformation in this patient is confined to the skin and subcutaneous tissues, with no involvement of the underlying tendons, muscle units, or bone, the most appropriate management is direct wide surgical excision and skin graft reconstruction.
Amputation is contraindicated until all lesser techniques of control have been exhausted.
Preoperative embolization is indicated for soft-tissue arteriovenousmalformations of the head and neck region when underlying structures are involved.
Laser ablation is unlikely to be successful, because laser penetration would reach no further than the upper layers of the skin, leaving the underlying subcutaneous vessels untreated.
Local excision is not recommended because the skin lacks the elasticity required for direct approximation. In addition, local excision of this type of vascular tumor is associated with a high incidence of recurrence, as occurred in this patient.
A 26-year-old man has had progressive enlargement of the left arm over the past 10 years. A photograph is shown above. Neurapraxiaof the median and ulnar nerves developed recently. The right arm decompresses when he lifts his hand over his head.
Which of the following is the most likely diagnosis?
(A) Arteriovenousmalformation
(B) Capillary malformation
(C) Hemangioma
(D) Lymphatic malformation
(E) Venous malformation
The correct response is E
This patient most likely has a venous malformation, which is characterized by compressibility and a propensity to fill with blood when the patient changes body positions. It is usually larger and extends deeper than its superficial structure indicates, and it frequently intertwines with neurovascular components, which may affect the function of the involved extremity. When a venous malformation is associated with thrombosis, pain may result.
Arteriovenousmalformations are high-flow lesions characterized by rapid blood flow through multiple feeding vessels. Pulsations and temperature changes in the affected area are associated, but dermal involvement is minimal. A bruit or thrill is heard on auscultation.
Capillary malformations, or port-wine stains, have abnormalities limited to the capillaries in the dermis. These lesions are present at birth and do not regress spontaneously. If left untreated, cobblestoning, ectasia, and progressive
darkening may occur. Patients with facial port-wine stains involving the first (ophthalmic) or second (maxillary) divisions of the trigeminal nerve (V1 and V2) are at significantly greater risk for ocular or nervous system involvement.
Hemangiomastypically appear shortly after birth and proliferate for several months before spontaneously regressing. They are characterized by proliferative primitive endothelial cell nests in syncytial masses, with and without vessel lumens.
Lymphatic malformations can be superficial or deep. Superficial lymphatic malformations are comprised of anomalous lymphatic remnants that manifest as clear vesicles. Deep lymphatic malformations appear similar to hemangiomasbut are soft and compressible on palpation. Bony overgrowth is associated.
A 62-year-old female non-smoker presented with skin induration, telangiectasis, cold intolerance, and severe pain especially in the thumb and index fingers. A hand angiogram is seen in Figure 58. What is this patient’s most likely diagnosis? Figure 8
A) Buerger’s disease
B) Hypothenar hammer syndrome
C) Superficial palmar arch aneurysm
D) CREST syndrome
E) Raynaud’s disease
Correct answer is option D.
The arteriogram in Figure 8 shows vascular occlusion in the thumb, index, ring and small. Considering the patient’s history of soft tissue induration, i.e., calcifications and telangiectasis, the patient has a diagnosis of CREST scleroderma.
Although Raynaud’s phenomenon is a component of CREST, this patient does not have the typical Raynaud’s disease that affects young females and does not have the soft tissue calcifications. Buerger’s disease, or thromboangiitis obliterans, is associated with a history of heavy smoking. Hypothenar hammer syndrome is due to repetitive trauma to the ulnar artery at the wrist resulting in well defined filling defects in the superficial palmar arch of the hand.
Although not well visualized in this patient, the superficial arch is narrowed showing no evidence of aneurismal dilatation.
