Syndromes involving vascular malformations: Klippel-Trenaunay, Sturge Weber, Van Lohuizen and Proteus syndromes.
Different syndromes having to do with vascular malformations exist. These syndromes always involve a combination of symptoms. Below we discuss the most prominent ones:
Klippel-Trenaunay Syndrome (KTS) consists of a combination of the following symptoms occurring in one limb (arm or leg):
- a port wine stain
- overgrowth, i.o.w. thickening or elongation
- varicose veins
- The port wine stain that KTS sufferers carry is often located on a leg or arm. Sometimes the wine stain is on the hip, belly, buttocks or shoulders, chest and back. Laser treatment may make the manifestation of this stain less prominent.
- In the case of overgrowth the affected limb is often longer and thicker. However, some people, by contrast, have seen the afflicted limb grow more thin or shorter. Different lengths of the legs may result in problems of posture and back complaints and is treated with heel adjustment or an operation.
- The varicose veins that come with KTS often manifest themselves at a younger age. Treatment of varicose veins in people with KTS is harder than in people with a regular varicose vein condition. Therefore we prefer to opt for support stockings.
The causes of the occurrence of KTS are not yet entirely known. It does not appear to be a hereditary condition. It is equally prominent in males and females. The condition was first documented in the year 1900 by the physicians Klippel and Tranaunay.
More information is to be found on the website of the KTS patients’ association: www.sktn.eu
Sturge Weber Syndrome
Sturge Weber Syndrome (SWS) is a combination of:
- a port wine stain on the face
- neurological disorders
- other symptoms such as defects of the eye
- The port wine stain carried by SWS sufferers is often on the upper eyelid and forehead. Often on one side only. The stain may be either small or larger. The colour may also vary from light pink to deep red or purple. Laser treatment may offer good results.
- The neurological disorders are caused by vascular anomalies in the skull. Their existence is ascertained through epileptic fits, lack of strength in the arm or leg diagonal to the wine stain, and both physical and mental developmental disorders..
- The eye disorder may express itself in the form of glaucoma, i.e. increased eyeball pressure (intraocular pressure or IOP) at the side of the wine stain. The eye may also be bigger on that side.
Every child, every person with SWS is unique in that they each carry the aforementioned symptoms in an individual pattern. Sturge Weber Syndrome is a congenital disorder. Its cause is as yet unknown. People suffering from SWS are commonly under the supervision of a pediatrician, a neurologist, an ophthalmologist and a dermatologist.
More information is to be found on the website of the SWS patients’ association: www.nswv.nl
Van Lohuizen Syndrome
Van Lohuizen Syndrome or Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare disorder. This condition was described for the first time by the Dutch pediatrician Van Lohuizen. ‘Cutis marmorata’ means ‘marbled skin’. ‘Telangiectatica’ means ‘with widened blood vessels’ and ‘congenita’ means ‘present at birth’ (congenital).
The skin is often only partially tainted: one side of the body more so than the other. CMTC appears more often in girls. The cause of the disease is unknown. In some cases the anomalies on the skin become less visible over the course of the patient’s life.
Healthy people also have marbled skins every now and then. This is due to the cold. Rising temperature makes the abnormalities disappear again. By contrast, in the case of CMTC the anomaly is permanently visible.
Often Van Lohuizen Syndrome appears only as a disorder of the skin. However, sometimes there are additional symptoms present, such as:
- thinning of the skin with risk of ulceration
- asymmetric limbs
- increased pressure in the eyeball (glaucoma)
More information is to be found on the website of the CMTC patients’ association: www.cmtc.nl
Proteus Syndrome (PS) is a very rare genetic condition, in which the patient suffers from disproportionate growth or deformation of different types of tissues, such as the skin, hypodermic (subcutaneous) tissue, bones and organs. This syndrome was named after the Greek sea god Proteus, who had the power of physical transformation (metamorphosis).
Across the whole world no more than a hundred cases of Proteus syndrome have thus far been recorded.
Patients with PS by definition display ‘mosaicism’. This means that the genetic abnormalities are only present in a certain percentage of the cells of the body. The other cells show a normal genetic pattern.
For a diagnosis of PS to be reached, the following criteria have to be met:
- The genetic defect is present in only part of all cells .
- Problems and complaints keep gradually increasing.
- The abnormality occurs sporadically and is not hereditary.
In order to make the diagnosis with certainty, one or more criteria within the following categories have to be fulfilled:
Category A (mandatory)
- fibroid tumor (naevus)
Category B (two out of three mandatory)
- a growth (tumor) on the upper skin/epidermis (epidermic naevus)
- overgrowth of one or more of the following limbs or organs: fingers, skull, spinal column, outer ear canal (external auditory meatus), spleen, or thyroid gland
- double-sided ovarian cysts or salivary gland tumors in patients below the age of twenty
Category C (all three mandatory)
- a tumor of fatty tissue (adipose tissue tumor or lipoma) or, by contrast, local reduction of fatty tissue
- capillary, venous or lymphatic malformations
- long face syndrome, drooping and dented bridge of the nose and an open mouth during inactivity