History of Sturge-Weber syndrome

From ancient times, visible birthmarks have singled out individual babies as being either "touched by divinity" or "cursed". Lacking scientific knowledge of their cause, people believed these facial angiomas or port-wine-stains to be caused by some adverse event experienced by the mother. Any neurological deficits accompanying these marks added to the unfortunate individual's lack of acceptance by the broader society.

It was not until the latter part of the nineteenth century that the range of manifestations of the condition we now call Sturge-Weber syndrome was defined medically.

The initial medical report of the association of a facial birthmark (angiomatous nevi) with other features is generally attributed to Schirmer in 1860. In 1879, Dr. William Sturge described a young girl with a port-wine colored angiomatosis of the face, neck, and trunk, ipsilateral buphthalmos and contralateral (opposite side) seizures and weakness. His name is linked with this condition because he clearly described the chief clinical manifestations and correctly surmised that the weakness and seizures resulted from the lesion.

In 1922, F. Weber wrote the first report of the radiographic features of the syndrome.

Although other physicians and researchers added much to the understanding of the syndrome, by convention and wide-spread recognition, Dr. Sturge and Dr. Weber have lent their names to this condition.

The two essential features of Sturge-Weber syndrome are a facial cutaneous angioma (port-wine nevus) and clinical signs or radiologic evidence of leptomeningeal angioma. The array of clinical features varies widely, and the constellation of organs involved and the severity of that involvement often differ greatly from one individual to another

Sturge-Weber syndrome has no clear genetic pattern, and two affected individuals almost never arise in the same family. The syndrome presents in all races and with equal frequency in both sexes.

History of Klippel-Trenaunay syndrome

Previously observed in 1832 by Isidore Geoffroy Saint-Hilaire (1805-1861). In 1900, noted French physicians Klippel and Trenaunay reported a patient with asymmetrical hypertrophy of the soft tissue and bone, together with haemangiomatous lesions of the skin, using the term "naevus variqueux osteohypertrophique". Parkes Weber in 1907 described three more cases and promulgated the classic triad of dermal naevi, osseous and soft tissue hemihypertrophy, and varicose veins. I 1918 Weber added the additional component of arteriovenous fistulae and thereafter the triple eponym came into use. Petschelt in 1953 reviewed 50 cases from the literature and added two additional ones.