 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 Since then the diagnosis has been defined by a collaborative effort of physicians and researchers from leading vascular anomaly treatment centers. Hemangiomas syndrome in infantile

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.

Atypical” PHACE: Extensive segmental hemangioma of the right trunk and arm in association with cardiovascular anomalies Signs and Symptoms

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.

 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.  J Perinatol Nov;31(11): doi: /jp PHACE Treatment

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.Katharine Krom Merritt

 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.rare diseaseinfantsvascular tumorplateletbleeding problems  These lesions may occur anywhere on the body  grow through the first months of life,  and usually affects girls more than boys Kasabach–Merritt syndrome (KMS),

 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 (KMS), Signs and Symptoms

Kasabach-Merritt Syndrome

 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 Kasabach-Merritt Syndrome Signs and Symptoms

 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. Diagnostic imaging

Differentials Diagnosis  Angiosarcoma Angiosarcoma  Arterial Vascular Malformations Including Hemangiomas and Lymphangiomas Arterial Vascular Malformations Including Hemangiomas and Lymphangiomas  Consumption Coagulopathy Consumption Coagulopathy  Hemangioblastoma Hemangioblastoma  Hepatic Hemangiomas Hepatic Hemangiomas  Immune Thrombocytopenic Purpura (ITP) Immune Thrombocytopenic Purpura

 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) Definitive treatment

 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: /

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.  Case Report Successful Treatment of Mild Pediatric Kasabach-Merritt Phenomenon with Propranolol Monotherapy

Supportive care  Patient with KMS can be extremely ill and may need intensive care.intensive care  They are at risk of bleeding complications including intracranial hemorrhage.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.fresh frozen plasmafluid overloadheart failure  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.disseminated intravascular coagulationAnticoagulant