Cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital skin disorder. It is characterized by marbled skin with dilated blood vessels, and may be associated with other physical abnormalities.

Symptoms and Signs

The primary symptom of CMTC is a marbled or lace-like pattern on the skin, caused by dilated blood vessels. This pattern is usually present at birth and may fade over time. Other symptoms may include:

• Ulcerations
• Atrophy (thinning of the skin)
• Body asymmetry
• Glaucoma
• Heart defects

Causes

The exact cause of CMTC is unknown. It is thought to be a sporadic condition, meaning it occurs in individuals with no history of the disorder in their family. However, some cases have been reported in siblings, suggesting a possible genetic component.

Diagnosis

Diagnosis of CMTC is primarily based on the characteristic physical findings. In some cases, a skin biopsy may be performed to confirm the diagnosis. Other tests may be done to check for associated abnormalities, such as heart defects or glaucoma.

Treatment

There is no specific treatment for CMTC. Management of the condition is focused on treating the symptoms and any associated abnormalities. For example, ulcerations may be treated with wound care, and glaucoma may be treated with eye drops or surgery.

Prognosis

The prognosis for individuals with CMTC varies. In some cases, the skin abnormalities may improve with age. However, individuals with associated abnormalities may have a poorer prognosis.

See also

• Congenital skin disorders
• Vascular malformations

References

Cutis marmorata telangiectatica congenita Resources
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