VAN LOHUIZEN SYNDROME

Overview and Facts

Van Lohuizen syndrome is an uncommon congenital vascular disease that most commonly affects the skin’s blood vessels. The skin appears “marbled” or “fishnet” purple or blue (cutis marmorata). Ulcerations or congenital skin abnormalities (aplasia cutis) can occur in certain people who are afflicted.

Associations may affect other body organs, such as the skeleton, kidneys, brain, eyes, and other parts of your body that may be affected with Van Lohuizen Syndrome.

Furthermore, the exact cause of Van Lohuizen syndrome is yet unknown. Also, for most patients, the onset of this disease appeared spontaneously. Hence, this syndrome is still under investigation by researchers, but genetic factors are seen as likely the cause.

Types and Symptoms

SYMPTOMS

The symptoms of Van Lohuizen Syndrome include:

  • Venectasia isn’t present.
  • Lack of sensitivity to local warming
  • Ulcers on the skin
  • Blood artery clusters noticeable below the skin
  • Imbalance in limb size
  • Patches of skin that are red or purple marbled in appearance and do not respond to warmth
  • Retinal erythema congenital

Furthermore, the skin changes are most usually seen on the lower limbs, however, they can also be seen on the upper limbs or trunk, and on the face rarely. In addition, it usually affects only one region of the skin.

In rare situations, Van Lohuizen Syndrome will encompass the entire body. The skin signs of Van Lohuizen syndrome usually improve over time, and there are no known long-term consequences.

Diagnosis & Medications

DIAGNOSIS 

A comprehensive clinical assessment, a complete patient history, and the identification of distinctive features can all help to confirm the diagnosis of CMTC.

TREATMENT

Within the first several years of life, the skin abnormalities associated with CMTC frequently fade away without therapy. Symptomatic and supportive therapy is the only other option. CMTC of the legs might be linked to the onset of superficial venous insufficiency, which could necessitate therapy.

Due to the presence of many big and deep capillaries and dilated veins, laser therapy has not proven successful in the treatment of CMTC. In CMTC, pulsed-dye laser and long-pulsed-dye laser have yet to be tested, but neither argon laser treatment nor YAG laser therapy has been proven to be effective.

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