Download PHACE syndrome in infantile hemangiomas

Hemangiomas syndrome in
infantile
 According to many study in infants with large hemagiomas,
one-third have extracutaneous manifestations consistent with
the diagnosis of PHACE syndrome.
 cutaneous condition characterized by multiple congenital
abnormalities .
 The most common are cerebrovascular and cardiovascular
anomaliesis
Hemangiomas syndrome in
infantile
PHACE was first described in the literature by Dr. llonia
Frieden and colleagues in 1996.
Since then the diagnosis has been defined by a
collaborative effort of physicians and researchers from
leading vascular anomaly treatment centers.
Background
 PHACE Syndrome is the uncommon association between large infantile
hemangiomas, usually of the face, and birth defects of the brain, heart, eyes,
skin and/or arteries.
 It is an acronym that stands for the medical names of the parts of the body it
often impacts:
 P = Posterior fossa (This refers to possible abnormal structures in the brain,
especially the cerebellum.)
 H = Hemangioma
 A = Arterial (This refers to possible abnormal arteries in the brain.)
 C = Cardiac (This refers to possible heart abnormalities.)
 E = Eyes (This refers to possible eye abnormalities.)
Signs and Symptoms
 Hemangiomas associated with PHACE Syndrome
are usually small or not visible at birth, but are
easier to see during the first days to weeks of life.
 They can grow quite fast.
 Hemangiomas linked with PHACE Syndrome tend
to cover a large area of the face, head or neck,
either as one lesion or as many single lesions.
Plaque-like, segmental facial
hemangioma characteristic of
PHACE syndrome.
Signs and Symptoms
Atypical” PHACE:
Extensive segmental
hemangioma of the right
trunk and arm in
association with
cardiovascular anomalies
Cause
 There has been a great deal of research to understand the cause of PHACE Syndrome.
The abnormalities associated with this syndrome are thought to be due to errors that
occur very early during development.
 Unfortunately, why the errors occur, or the exact cause is still unknown.
 PHACE infants to be of slighter higher gestational age and born to slightly older mothers.
 Eighty-eight (88%) percent were female, a finding which has been noted in multiple
other reports.
 There may be a genetic component involved and studies are underway to investigate this
idea.
 No familial cases have been identified to date.
Diagnosis
If the medical history and the actual exam of the hemangioma look typical
for PHACE Syndrome, more tests are ordered to confirm the diagnosis.
 These tests may include:
 Ultrasound
 Magnetic resonance imaging (MRI)
 Magnetic resonance angiography of the brain (MRA)
 Echocardiogram of the heart
 Eye exam by an eye doctor
Other tests may be needed for diagnosis and treatment
 As it grows, the hemangioma can break down
skin, distort facial features or get in the way of
other vital functions, such as breathing, vision,
and hearing.
 Other complications will depend on what other
structures are involved. These could include
developmental delay, seizures, headaches, and
abnormal muscletone if the brain is involved.
PHACE Treatment
 Usually the hemangioma requires medical therapy. The child may need other therapies,
depending on what other organs or structures are involved.
 PHACE syndrome needs to be managed by a multidisciplinary team of experts.
Additional specialties such as cardiology, ophthalmology, neurology, and neurosurgery
may need to be involved. The team of experts pay close attention to how these children
develop throughout the school age period.
PHACE Treatment
 J Perinatol. 2011 Nov;31(11):739-41. doi: 10.1038/jp.2011.28
 Use of propranolol for treatment of hemangiomas in PHACE
syndrome.
Solomon T1, Ninnis J, Deming D, Merritt TA, Hopper A.
 In this infant, the hemangiomas progressed with failure to
involute despite currently recommended therapy including
corticosteroids and vincristine. Therefore, the infant was treated
with propranolol and had significant regression of the
hemangiomas. The use of propranolol for the treatment of
infantile hemangiomas is reviewed.
Kasabach-Merritt Syndrome
HEMANGIOMA-THROMBOCYTOPENIA SYNDROME
It is named after Haig Haigouni Kasabach and Katharine Krom Merritt,
the two pediatricians who first described the condition in 1940.
Kasabach–Merritt syndrome (KMS),
 also known as Hemangioma with thrombocytopenia is a rare
disease, usually of infants, in which a vascular tumor leads to
decreased platelet counts and sometimes other bleeding
problems, which can be life-threatening.
 These lesions may occur anywhere on the body
 grow through the first 12-18 months of life,
 and usually affects girls more than boys
Kasabach–Merritt syndrome (KMS),
Signs and Symptoms
 Visible cutaneous blue, violaceous, or reddish-brown lesions are often the
presenting features in patients with Kasabach-Merritt syndrome (KMS).
 Most lesions are located on the extremities.
 Some infants and older children with visceral lesions present with an enlarged
abdomen.
 Those with hepatic kaposiform hemangioendotheliomas also may present with
hepatomegaly or jaundice.
Kasabach-Merritt Syndrome
Kasabach-Merritt Syndrome
Signs and Symptoms
 Coagulopathy is marked by:
 anemia,
 thrombocytopenia,
 prolonged prothrombin time (PT) ,
 activated partial thromboplastin time (aPTT),
 reduced fibrinogen levels,
 fibrin split products,
Kasabach-Merritt Syndrome
Signs and Symptoms
 The lesions are usually painful and tender.
 Bleeding from thrombocytopenia and coagulopathy is observed both locally and,
[DIC]).
 the mortality rate is still as high as 10–37% because of hemorrhagic
complications and unresponsiveness to treatment
Physical signs of high-output cardiac failure include tachycardia, feeding
difficulty, and shock. Pallor
Some patients with diffuse cavernous kaposiform hemangioendothelioma (KHE)
of a visceral organ may present with anemia, thrombocytopenia, coagulopathy,
and bleeding, which may be misdiagnosed as immune thrombocytopenic
purpura.(ITP) or malignant lesions
Diagnostic imaging
 Radiography, CT, MRI, and Ultrasonography
 MRI or CT commonly reveals a vascular enhancing mass that is difficult to
differentiate from a vascular malformation, solid tumor, or proliferative
vascular lesion.
 If KMS is suspected in patients who have no visible vascular lesions, CT scans
or MRIs of the head, chest, abdomen, and pelvis should be obtained to identify
any visceral lesions.
 Doppler flow studies may help differentiate a solid mass from a vascular lesion.
Differentials Diagnosis
 Angiosarcoma
 Arterial Vascular Malformations Including Hemangiomas and Lymphangiomas
 Consumption Coagulopathy
 Hemangioblastoma
 Hepatic Hemangiomas
 Immune Thrombocytopenic Purpura (ITP)
Definitive treatment
 Once the diagnosis of KMS is confirmed, it is important to inform parents
regarding the signs of congestive heart failure and thrombocytopenia in
infants (eg, difficulty feeding, petechiae, bruising, hematuria, and bloody
stools).
 If complete surgical resection is feasible, it provides a good opportunity for
cure (although it can be dangerous to operate on a vascular tumor in a
patient prone to bleeding, even with appropriate surgical subspecialists
involved)
 If surgery is not possible, various other techniques can be used to control the
tumor:
 embolization (by interventional radiology) can limit the tumor's blood supply
 external compression bandages can have similar effects
 certain medications, including:
 corticosteroids
 alpha-interferon
 chemotherapy (e.g. vincristine)
 radiation therapy has been used, often successfully, but now is avoided
whenever possible due to the risk of long-term adverse effects
(e.g. risk for future cancer).
 Reddish-blue lesion covering lower part of
the abdomen (caverno-capillary
haemangioma).
 The clinical findings and imagining studies
followed by laboratory investigations
strongly suggested the diagnosis of
Kasabach-Merritt syndrome
Kotb Abass et al. - Successful treatment
of kasabach-merritt syndrome with
vincristine and surgery: a case report and
review of literature. Cases Journal 2008,
1:9doi:10.1186/1757-1626-1-9
 Case Report
Successful Treatment of Mild Pediatric
Kasabach-Merritt Phenomenon with
Propranolol Monotherapy
Figure 1: patient, before treatment with propranolol (at a
dose of 2 mg per kilogram of body weight per day).
the patient at 3 weeks after the initiation of propranolol with
some degree of regression of primary lesion.
the patient at 9 months of age (8 months after the initiation
of propranolol treatment) with regression of primary lesion.
Supportive care
 Patient with KMS can be extremely ill and may need intensive care.
 They are at risk of bleeding complications including intracranial hemorrhage.
 The thrombocytopenia and coagulopathy are managed with platelet
transfusions and fresh frozen plasma, although caution is needed due to the
risk of fluid overloadand heart failure from multiple transfusions.
 The possibility of disseminated intravascular coagulation, a dangerous and
difficult-to-manage condition, is concerning.Anticoagulant and antiplatelet
medications can be used after careful assessment of the risks and benefits.