Among various causes that can cause a facial vein, Maffucci Syndrome is the rarest of possibilities. Discovered as a condition that caused symptoms similar to tumorous growths in the blood vessels, Maffucci Syndrome was discovered towards the end of the 19th century. However, the term ‘Maffucci Syndrome’ was officially adopted in 1941.
Understanding Maffucci Syndrome
Maffucci Syndrome is among the rarest of genetic disorders that can occur in males and females. The condition has no preference for age or any race-based incidence. Though Maffucci Syndrome is known to cause the development of facial veins, its main symptoms are tumor-like growths in the bony tissue. The most serious symptoms of Maffucci Syndrome include deformities in the lower limbs. The bone deformities are easily visible as they are highly pronounced. Unlike some other causes of facial veins, the swelling caused by Maffucci Syndrome takes a rather dark coloration that doesn’t appear like a birthmark. Here, the facial veins appear more like a line of discolored or burnt skin.
Diagnosing Maffucci Syndrome
Maffucci Syndrome is congenital in origin, but decoding its presence at the time of birth is beyond most contemporary, clinical facilities. Maffucci Syndrome is extremely difficult-to-diagnose, as it doesn’t present any pre-diagnostic indications in the newborn that can indicate towards the underlying problem. Due to the rarity of this condition, most neonatal or childbirth clinics don’t have an extensive diagnostic procedure aimed at checking for such symptoms.
Maffucci Syndrome cannot be communicated through any form, and it is purely genetic in nature. Further, the symptoms of Maffucci Syndrome don’t manifest at the time of birth. Most Maffucci Syndrome symptoms tend to appear at a young (toddler) age, i.e. around the age of four or five years.
Other Names for Maffucci Syndrome
- Multiple Angiomas Syndrome with Endochondroma
- Kast Syndrome
- Hemangiomatosis Chondrodystrophica
- Multiple Cavernous Hemangiomas Syndrome
Clinical Symptoms of Maffucci Syndrome
Though the presence of facial veins in a child is indicative of Maffucci Syndrome, this is not the initial symptom. Among most cases of Maffucci Syndrome, other kinds of skin-related initial symptoms have been reported. These include the present of blue-colored, slightly bluish outgrowths on the skin of the extremities. Another symptom that surfaces later in life is the slightly stunted development of the individual that is enhanced by the bone abnormalities.
Maffucci Syndrome doesn’t affect the intellect capability of the individual and doesn’t induce any other kind of skin-related abnormality. There is no incidence of skin suffering from increased sensitivity. Similarly, progression of the facial veins into any form of scarring is not prevalent.
The individual retains average psychological capabilities, along with the facial veins that progress a bit aggressively for a few months after they first appear. The exaggerated or swollen veins can be found in other parts of the body apart from the face. This includes the tongue, trachea, lower eyelids and the abdomen.
Please note that physiology of the facial veins in Maffucci Syndrome is a bit different from other causes of facial veins. Here, the veins tend to protrude to a greater extent, having a more defined outline. This is mainly because the swelling of veins is caused due to multiple hemangiomas or soft tumor-like nodules that tend to push hard against the blood vessels.
Treatment and Mortality
There is very little evidence to suggest that Maffucci Syndrome is a life-threatening condition. This congenital condition induces skin and bone-related malformations that are chronic and cannot be resolved through conventional forms of medicine. Cosmetic treatments in the form of laser-based treatments and electro-surgery can eradicate facial veins to an appreciable extent.
