Hemangiomas Flashcards
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.
2017
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.
2017
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.
2017
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.
2017
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.
2017
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.
2016
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 response 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.
2016
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.
2015
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 - n/a. 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.
2015
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.
2015
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.
2015
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 III lesion, which is the highest 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.
2015
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.
2014
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.
2014
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.
2014
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.
2014
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).
2014
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.
2013
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.
2013
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.
2013
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.
2013
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.
2012
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.
2012
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).
2011
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.
2011
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.
2011
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.
2019
