Carvajal syndrome is a rare, inherited disorder characterized by a combination of specific symptoms affecting the skin, hair, and heart. It's a type of cardiocutaneous syndrome, meaning it impacts both the heart and the skin.
Key Features of Carvajal Syndrome
The main features of Carvajal syndrome include:
- Woolly Hair: Abnormally curly or tightly coiled hair.
- Palmoplantar Keratoderma: Thickening of the skin on the palms of the hands and soles of the feet.
- Heart Disease: Specifically, a type of heart muscle disease called dilated cardiomyopathy, which can lead to heart failure.
These features typically manifest early in life.
Cause of Carvajal Syndrome
Carvajal syndrome is caused by a genetic mutation in the DSP gene, which provides instructions for making a protein called desmoplakin. According to the provided reference, this is usually a recessive deletion mutation in desmoplakin. Desmoplakin is an intracellular protein crucial for the structure and function of desmosomes, which are cell structures that act as "glue" to hold cells together. Desmosomes are particularly important in tissues that experience a lot of mechanical stress, such as the skin and heart. A faulty desmoplakin protein disrupts cell adhesion, leading to the symptoms observed in Carvajal syndrome.
Inheritance Pattern
Because Carvajal syndrome is caused by a recessive mutation, an individual must inherit two copies of the mutated DSP gene (one from each parent) to develop the condition. Individuals who inherit only one copy of the mutated gene are carriers and typically do not show symptoms.
Diagnosis
Diagnosis typically involves a physical examination, evaluation of family history, and genetic testing to identify mutations in the DSP gene. Cardiac evaluations, such as echocardiograms, are also important to assess heart function.
Management
There is no cure for Carvajal syndrome; management focuses on alleviating symptoms and preventing complications. This may involve:
- Skin care: Emollients and keratolytics to manage palmoplantar keratoderma.
- Cardiac care: Medications to manage heart failure and arrhythmias; in severe cases, a heart transplant may be considered.
Summary Table
| Feature | Description |
|---|---|
| Syndrome Type | Cardiocutaneous Syndrome |
| Key Symptoms | Woolly hair, palmoplantar keratoderma, dilated cardiomyopathy |
| Genetic Cause | Recessive mutation in the DSP gene (desmoplakin) |
| Inheritance Pattern | Autosomal Recessive |
| Management | Symptomatic relief and prevention of complications, including cardiac care |
