[Cutaneous hemangiomas, vascular malformations and associated disorders. A new neurocutaneous syndrome]

Cutaneous hemangiomas and vascular malformations constitute a systemic disease that is the most frequent of the neurocutaneous syndromes reported to date. It appears more frequently in women than in men. The aim of this study was to describe the characteristics of this new neurocutaneous syndrome.

We studied a large number of patients who presented cutaneous hemangiomas and/or vascular malformations located anywhere on the body. The patients underwent periodic clinical follow-up and imaging studies due to their aesthetic, functional and/or neurological problems.

Clinical evaluation revealed a wide range in the size and severity of cutaneous vascular lesions and in their relationship with various internal anomalies, which were almost always located in the areas underlying the cutaneous vascular lesions. Those situated in the head, face, neck and chest were first discovered and are the best known. The most frequent findings were cerebellar malformations, persistence of the trigeminal artery, absence of the carotid or vertebral arteries and congenital heart disease. Many of the patients with this syndrome had mental retardation or borderline mental retardation.

This disorder appears more frequently in females than in males. It is the most recently described neurocutaneous syndrome and is also the most prevalent. This syndrome is associated with numerous disorders that can be located in the areas underlying the cutaneous vascular lesions anywhere on the body. Cutaneous hemangiomas and subjacent hemangiomatous tumors, like other associated vascular abnormalities, can show a parallel, spontaneous increase or decrease in size without treatment. Complete occlusion of the vessels can occur while vascular malformations show no progression or involution. This new neurocutaneous syndrome is also known as Pascual-Castroviejo type II syndrome and PHACE.