Its characteristics are a port-wine stain that involves the skin around the eye and cheek as well as the covering of the brain; seizures; atrophy of the brain tissue; and developmental delay. Early diagnosis is important to allow control of seizures and monitoring of eye pressures by an ophthalmologist to help preserve vision.
Venous Malformations are made up of malformed veins and can involve skin and deeper structures. They vary in color from blue to dark purple, depending on how deep the malformation extends and can be very localized or more diffuse. Common areas to find venous malformations are the cheek, jaw, lips and in the mouth. They tend to swell with activity/exercise or if the malformation is in the dependent position (ie when lying down). The mass is usually soft and compressible and then refills when released. There may be small hard masses palpable in the malformation, these are called phleboliths and are small collections of calcium that have resulted from slow blood flow and blood clots.
There are many treatment options for patients with venous malformations including laser treatment for surface (skin or mucosal) lesions, and sclerotherapy (injecting the area with an irritant to help clot and shrink the area) and/or surgery for deeper lesions. Each patient is different and recommendations for treatment will vary depending on the lesion and the patient's symptoms.
There are many names for these lesions including lymphangioma and cystic hygroma but the correct term is lymphatic malformation. They are made up of abnormal, dilated lymph channels that can be focal or diffuse. They are frequently located in the head and neck area (70-80%) and many of them are present at birth. Lymphatic malformations can be very large and when present in the neck area, frequently cause airway obstruction and may require tracheostomy. Lymphatic malformations tend to increase in size with an infection such as upper respiratory infections and frequently will require a course of steroids to help them shrink back down. When malformations involve the inside of the mouth, vesicles (resembling fish eggs) may form and they can be filled with clear fluid or may be filled with blood. When this occurs, it is common to have pain when eating acidic or salty foods, as well as bad breath and bleeding. An MRI can be very helpful in confirming the diagnosis of lymphatic malformation as well as define the extent of disease.
Lymphatic malformations are difficult to cure if they are diffuse (affecting more than one small area). The goal of treatment is to help the patient maintain function such as swallowing and speaking, and also to help look as normal as possible.
Arteriovenous Malformations (AVMs) involve an abnormal connection between arteries and veins that are present from birth but are frequently not noticed until months or years later. They are also frequently located in the head and neck area but can occur anywhere in the body. AVMs have a variable growth pattern with some growing very slowly to others that are more aggressive with rapid expansion. Patients will frequently notice a throbbing pain and growth/thickness of the area involved. In many cases, the overlying skin has a reddish/pink stain and sometimes patients complain of bleeding from the area of the malformation. When bleeding occurs it can be quite brisk and may require medical attention. Also on physical examination, a pulsation or thrill may be felt. An angiogram is the most helpful tool in determining the extent of the arteriovenous malformation and is used frequently in preoperative planning.
Surgical removal is usually necessary and can be extensive in some cases. Embolization is also a tool that can control areas of bleeding as well as a presurgical tool to decrease the amount of blood loss during surgery.
Lasers can be used to treat the skin portion of the birthmark but will only be effective after the deeper portions of the malformations have been removed.