Van Lohuizen syndrome

Van Lohuizen Syndrome

Van Lohuizen Syndrome

Description:

Capillary-venous cutaneous malformation with “marbled” appearance. Also called as cutis marmorata telangiectatica congenital.

Abbreviation: CMTC.

Alternative Name: Congenital Generalized Phlebectasia.

Van Lohuizen Syndrome is a rare congenital skin disorder characterized by discoloured patches of skin (livedo reticularis) caused by dilated surface blood vessels (telangiectases) which give the skin a blue or purple marbling or "fishnet" appearance. This condition is often associated with crater-like lesions (ulcers) of the skin. Other congenital abnormalities are found in at least fifty percent of affected individuals.

In general only a part of the skin is affected and the distribution over the body is asymmetric, which means that one of the sides of the body is seriously affected. The affection seems to appear more with girls than with boys. What the cause of this is still unknown. A marbled skin like that of a CMTC patient can also appear at a newborn or be influenced by outside factors like cold. An important difference with CMTC is the constant presence of the marbling. The marbling of the skin can reduce in time.

Symptoms:

Symptoms Include:

1. Marbling of the skin.

2. Sores can appear and that the skin locally can become thin.

3. Asymmetric limbs.

4. In a number of cases glaucoma is also noted.

Causes and Risk Factors:

The exact cause of CMTC is unknown. Some researchers think it may be caused by a specific type of genetic condition, however, it is not usually seen in more than one family member. CMTC is unlikely to be caused by any medication taken during pregnancy or any activity performed during this time. CMTC can be associated with other conditions. Related abnormalities are found in up to 50% of patients with CMTC. These abnormalities include vascular conditions such as portwine stains (red-colored patches that are present at birth) and hemangiomas (non-cancerous, blood-filled growths that appear in the first weeks of life).

Other associated conditions include:

    Overgrowth of extremities.

  • Glaucoma (increased pressure of the fluid within the eye).

  • Delayed psychomotor development.

Diagnosis:

Experienced physicians can recognize CMTC by careful examination and observation of the skin. Most important, they can tell if a patient has CMTC or some other vascular condition. Diagnostic imaging tests are advised only when other abnormalities are suspected. These tests may include x-rays, computerized tomography (CT), and magnetic resonance imaging (MRI).

Treatment Options:

No treatment is needed for cutis marmorata telangiectatica congenita (CMTC) unless associated anomalies (eg, glaucoma, hypospadias, syndactyly, multicystic renal disease, cardiac malformation, limb asymmetry) require treatment.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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