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Birthmark Related Conditions and Syndromes

By Glenda Ethington

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Cutis Marmorata Telangiectatica Congenita – Considered congenital, as symptoms occur at birth or soon after. CMTC is often found in association with a variety of other congenital anomalies, such as Sturge-Weber syndrome or Klippel-Trenaunay syndrome. CMTC can result in the undergrowth or overgrowth of an involved extremity (hypoplasia and hypertrophy of the affected limbs), glaucoma, cutaneous atrophy, and neurologic abnormalities.

Hereditary Hemorrhagic Telangiectasia – A genetic disorder of the blood vessels often referred to as Osler-Weber-Rendu syndrome. Characterized by blood vessels that lack the capillaries between an artery and vein.

Kaposiform Hemangioendothelioma –This is an extremely rare, malignant vascular tumor and is commonly associated with Kasabach-Merritt syndrome. Usually present at birth or soon after and can appear as a bruised area, causing severe coagulopathy.

Kasabach-Merritt syndrome – Lesions usually appear as reddish-brown discolorations and bruising might be present in other areas. Bleeding from thrombocytopenia and coagulopathy is frequently observed. This syndrome is now known to occur in Kaposi hemangioendotheliomas and tufted angiomas.

Klippel-Trenaunay syndrome – A congenital disease consisting of port wine stain of the extremities, soft tissue and bone hypertrophy (excessive growth), venous malformations, and lymphatic abnormalities.

Neurofibromatosis – A genetic disorder of the nervous system, causing tumors to form on the nerves in the body. These can appear at any time and anywhere in the body. There are two forms of the disease (NF-1 and NF-2).

NF-1 consists of two or more of these symptoms: six or more café-au-lait spots, two or more neurofibromas or one or more plexiform neuorofibromas, freckling in the armpit or groin area, optic glioma, two or more Lisch nodules, dysplasia, an immediate family member with NF-1.

NF-2 consists of bilateral vestibular schwannomas (confirmed cases).
Probable NF-2 if the following occurs: Family history of NF-2, unilateral vestibular schwannomas (VS) or any two of the following: meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacity, juvenile cortical cataract.

Parkes-Weber syndrome – This condition involves an arteriovenous malformation (AVM) of a limb causing overgrowth of that limb. Incresed blood-flow can result in high-output cardiac failure.

PHACE syndrome – Acronym to describe an association of Posterior fossa brain malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, and Eye abnormalities.

Sturge-Weber syndrome – A congenital disease most often recognized by the presence of a facial port wine stain. SWS is generally characterized by leptomeningeal angiomas, abnormal blood vessels on the outer layer of the brain (meninges). Other symptoms can include, but aren’t limited to: seizures, glaucoma, headaches, migraines, learning disability, and mild to severe retardation. Not all cases of SWS are identical and symptoms and their severity can vary.

Vein of Galen – A rare condition that affects the blood vessels of the brain. The most common symptom of this disease is cardiac failure, due to abnormal connections between arteries and the deep draining veins of the brain. Malformations of the arteries and veins in the brain are absent of capillaries, and this causes the flow of blood to become very rapid, increasing the work of the heart. This increased blood-flow can also interfere with the normal blood drainage of the brain, and can also result in the development of hydrocephalus.

Wyburn-Mason syndrome – Congenital disease sometimes referred to as Bonnet-Dechaume-Blanc syndrome. It is characterized by arteriovenous malformations (AVM) in the central nervous system (brain) and the retina. Larger AVM’s usually cause visual or neurological impairment and are typically diagnosed early in life. Smaller lesions may not be diagnosed immediately, and symptoms may occur later in life. Vascular malformations of the skin (port wine stain) can also be present with this disease.

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