About Cutis Marmorata Telangiectatica Congenita
What is Cutis Marmorata Telangiectatica Congenita?
Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare genetic disorder characterized by a mottled, marbled skin pattern caused by dilated capillaries. It is usually present at birth and is caused by a mutation in the PIK3CA gene. Symptoms may include a marbled skin pattern, visible veins, and a lack of sweat glands. In some cases, CMTC may be associated with other medical conditions such as heart defects, skeletal abnormalities, and intellectual disability. Treatment is typically focused on managing any associated conditions and providing supportive care.
What are the symptoms of Cutis Marmorata Telangiectatica Congenita?
The most common symptoms of Cutis Marmorata Telangiectatica Congenita (CMTC) include:
-Mottled, marbled, or reticulated skin pattern
-Telangiectasias (small, dilated blood vessels)
-Hyperpigmentation (darker patches of skin)
-Hypopigmentation (lighter patches of skin)
-Atrophic scars (shallow depressions in the skin)
-Hemangiomas (benign tumors made up of blood vessels)
-Flexion contractures (limited range of motion in the joints)
-Hair loss
-Nail abnormalities
-Cleft lip or palate
-Developmental delays
-Cognitive impairments
What are the causes of Cutis Marmorata Telangiectatica Congenita?
Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare genetic disorder that affects the skin. It is caused by a mutation in the PIK3CA gene, which is responsible for controlling the production of proteins that regulate cell growth and development. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal dominant pattern.
What are the treatments for Cutis Marmorata Telangiectatica Congenita?
1. Laser therapy: This is the most common treatment for Cutis Marmorata Telangiectatica Congenita (CMTC). Laser therapy uses a beam of light to target and destroy the abnormal blood vessels that cause the condition.
2. Sclerotherapy: This is a procedure that involves injecting a solution into the affected area to shrink the abnormal blood vessels.
3. Corticosteroid creams: These creams can help reduce inflammation and redness associated with CMTC.
4. Phototherapy: This involves exposing the affected area to ultraviolet light to reduce the appearance of the condition.
5. Surgery: In some cases, surgery may be necessary to remove the abnormal blood vessels.
What are the risk factors for Cutis Marmorata Telangiectatica Congenita?
1. Genetic predisposition: Cutis Marmorata Telangiectatica Congenita (CMTC) is an inherited disorder, usually caused by a mutation in the PIK3CA gene.
2. Premature birth: Babies born prematurely are more likely to develop CMTC.
3. Low birth weight: Babies born with a low birth weight are more likely to develop CMTC.
4. Family history: If a family member has CMTC, there is an increased risk of developing the condition.
5. Gender: CMTC is more common in males than females.
Is there a cure/medications for Cutis Marmorata Telangiectatica Congenita?
At this time, there is no cure for Cutis Marmorata Telangiectatica Congenita (CMTC). However, there are medications that can help manage the symptoms. These include topical steroids, laser therapy, and oral medications such as beta-blockers and calcium channel blockers. Additionally, physical therapy and occupational therapy can help improve mobility and reduce pain.