About van lohuizen syndrome

What is van lohuizen syndrome?

Cutis marmorata telangiectatica congenita (CMTC) is a rare inherited disorder characterized by discolored patches of skin caused by widened (dilated) surface blood vessels. As a result, the skin has a purple or blue "marbled" or "fishnet" appearance (cutis marmorata). In some affected individuals, ulcerations or congenital skin defects (aplasia cutis) can be present. The latter association can be part of Adams-Oliver syndrome.. Additional associated abnormalities have been reported including pink or dark red, irregularly shaped patches of skin (nevus flammeus); loss of muscle tissue (wasting) on one side of the body (hemiatrophy); elevated fluid pressure within the eye (glaucoma); and/or undergrowth (hypotrophy) of one leg. However, many if not all of those cases represent forms of Klippel-Trenaunay syndrome or related disorders, in particular Cowden's disease. The most common association of true CMTC is with soft tissue (subcutaneous fat and muscle) hypoplasia. The disorder formerly known as macrocephaly-cutis marmorata telangiectatica congenital (M-CMTC) is a distinct genetic disease and is now called macrocephaly-capillary malformation (M-CM/MCAP) Virtually all cases of CMTC occur randomly for no apparent reason (sporadically). It is thought that CMTC represents a form of genetic mosaicism.

What are the symptoms for van lohuizen syndrome?

Marbling of the skin symptom was found in the van lohuizen syndrome condition

The symptoms of CMTC are present at birth (congenital). Affected infants have discolored patches of skin caused by widened (dilated) surface blood vessels (livedoreticularistelangiectases). The affected areas of skin have a “marbled” or “fishnet” appearance (cutis marmorata). In most cases, Skin abnormalities affect the arms and legs (limbs), although the trunk may also be involved. Facial involvement is very rare. The skin symptoms associated with classical CMTC improve with age and usually disappear completely around puberty. Atrophic patches may remain. The soft tissue hypoplasia can likewise remain present, in particular if muscles are affected. This has no consequences for normal functionality. In an affected leg, the greater saphenous vein may be too wide. It is not yet known whether this will lead to venous insufficiency later in life.

A plethora of associated abnormalities have been reported. However, careful evaluation of these and more recent cases strongly suggests that the Skin abnormalities in these patients are not CMTC but capillary malformations. These can be associated with several syndromic disorders. The ones most commonly mistaken for CMTC variants are Klippel-Trenaunay syndrome, Cowden’s disease and M-CM. Rarely, Adams-Oliver and Proteus(-like) syndromes underlie the vascular abnormalities.

What are the causes for van lohuizen syndrome?

The exact cause of CMTC is not known. Most cases occur randomly, for no apparent reason (spontaneously). Researchers believe that the disease results from genetic mosaicism. One theory suggests that abnormal pericyte recruitment can cause skin capillaries to contract inappropriately. In a few rare cases, it has appeared that CMTC may occasionally run in families (familial cases).

What are the treatments for van lohuizen syndrome?

The skin abnormalities associated with CMTC often go away without treatment (spontaneous remission) within the first years of life. Other treatment is symptomatic and supportive. CMTC of the legs might be associated with early development of superficial venous insufficiency, which may require treatment.

Infants with a diagnosis of CMTC and/or associated abnormalities should be referred to a specialist center. If indicated, they will receive a thorough clinical evaluation to reach a definitive diagnosis. No diagnostic procedures are required if the diagnosis is typical isolated CMTC.

What are the risk factors for van lohuizen syndrome?

An uncommon congenital skin condition known as Van Lohuizen Syndrome, is marked by discoloured patches of skin (livedo reticularis) brought on by dilated surface blood vessels (telangiectases), which give the skin a ""fishnet"" or blue or purple appearance. This condition is commonly accompanied by skin sores (Ulcers) that resemble craters. At least 50% of those with the condition also have other congenital defects.

Risk factors involved in Van Lohuizen Syndrome

  • There is no known cause for CMTC. Although it rarely affects more than one family member, some experts believe it may be caused by a particular kind of genetic disease.
  • Any drug used during pregnancy or any activity done during this time is unlikely to be the cause of CMTC. Other diseases can be linked to CMTC. Up to 50% of people with CMTC have related problems.
  • These anomalies include vascular disorders like hemangiomas and portwine stains, which are red spots that are present at birth (non-cancerous, blood-filled growths that appear in the first weeks of life)
  • In most cases, just a small part of the skin is damaged, and the distribution over the body is asymmetric, meaning that one side of the body is severely afflicted. With girls rather than boys, the affection tends to be more noticeable. What caused this is still a mystery.
  • A newborn's skin may also have a marbling similar to that of a CMTC patient, or it may be affected by climate elements like cold. The continuous existence of the marbling with CMTC is a significant distinction. Over time, the skin's marbling can lessen.

Marbling of the skin,Sores can appear and the skin locally can become thin,Asymmetric limbs,Glaucoma
Overgrowth of extremities,Glaucoma,Delayed psychomotor development
Antibiotic treatment

Is there a cure/medications for van lohuizen syndrome?

Van Lohuizen Syndrome is an uncommon congenital vascular condition that often affects the skin's blood vessels.

Diagnosis available for Van Lohuizen Syndrome

  • Physicians with experience can identify Van Lohuizen Syndrome by closely examining and observing the skin.
  • Most importantly, they can identify Van Lohuizen Syndrome or other vascular conditions in patients.
  • Only when other abnormalities are thought to be present are diagnostic imaging tests indicated.
  • These examinations could involve X-rays, CT scans, and magnetic resonance imaging (MRI).

Treatment available for Van Lohuizen Syndrome

  • Van Lohuizen Syndrome does not require therapy unless concomitant anomalies (such as glaucoma, hypospadias, syndactyly, multicystic renal disease, heart deformity, and limb asymmetry) do.
  • Although accompanying problems can be treated, there is often no cure for Van Lohuizen Syndrome. Treatment is not necessary for limb asymmetries when no functional issues are present, with the exception of an elevating device for the shorter leg.
  • Due to the presence of several large, deep capillaries and dilated veins, laser therapy has not proved effective in treating Van Lohuizen Syndrome. While argon laser therapy and YAG laser therapy have not been effective, pulsed-dye laser and long-pulsed-dye laser have not yet been studied in Van Lohuizen Syndrome.
  • Antibiotic treatment such as oxacillin and gentamicin taken for 10 days has been prescribed when ulcers arise related to the congenital condition. In one investigation, blood cultures were negative but Escherichia coli developed in the wound.

Marbling of the skin,Sores can appear and the skin locally can become thin,Asymmetric limbs,Glaucoma
Overgrowth of extremities,Glaucoma,Delayed psychomotor development
Antibiotic treatment

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