Stories about: CLOVES syndrome

The emerging genetic mosaic of lymphatic and vascular malformations

somatic mosaic mutations vascular anomalies vascular malformations CLOVES Klippel-Trenaunay KTS fibroadipose FAVA lymphatic malformation

Our genes can mutate at any point in our lives. In rare cases, a mutation randomly occurs in a single cell of an embryo and gets carried forward only in the descendants of that particular cell, leaving its mark in some tissues, but not in others. This pattern of mutation, called somatic mosaicsm, can have complicated consequences down the road.

Take CLOVES, a rare syndrome combining vascular, skin, spinal and bone or joint abnormalities described by Ahmad Alomari, MD, co-director of Boston Children’s Hospital Vascular Anomalies Center (VAC). Four years ago, a research team including Alomari and Matthew Warman, MD, discovered that the growths in CLOVES patients had mutations in a growth-regulating gene called PIK3CA. Those mutations, they found, were spread through the affected tissues in a somatic mosaic pattern.

Now it turns out that CLOVES is not alone. In a recent paper in the Journal of Pediatrics, VAC researchers led by Warman proved that three other rare lymphatic and vascular anomalies and overgrowth syndromes often share the same somatic mosaic PIK3CA mutations: Klippel-Trenaunay syndrome (KTS), fibroadipose vascular anomaly (FAVA) and isolated lymphatic malformations.

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NOT all in the family: Tackling rare genetic diseases that aren’t inherited

Finding the genetic cause of a non-inherited disorder is a challenge–especially when the gene is abnormal in only some of a person’s cells.

How do you find the genetic cause of a disease that doesn’t appear to be inherited, presents with a variety of symptoms—and has been diagnosed in just a few hundred people worldwide? Add to that the fact that the genetic defect occurs in only a portion of a patient’s cells, and a formidable challenge emerges.

As a team of researchers from Boston Children’s Hospital has discovered, and as is true in many rare diseases, depth and breadth of clinical experience can prove pivotal.

It all started in 2006. That’s when, after poring over years’ worth of patient records and photos, Ahmad Alomari, MD, an interventional radiologist at Boston Children’s and co-director of its Vascular Anomalies Center, defined a condition he called CLOVES syndrome. CLOVES is complex and looks somewhat different in every patient, causing a combination of vascular, skin, spinal and bone or joint abnormalities. It’s a rare and progressive disease for which no known cure or “one-size-fits-all” treatment exists.

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