(TMU) – The Fugates, a blue-skinned family from the hills of Kentucky has attracted and baffled scientists for generations, although their condition has now been explained as being caused by the disease Methemoglobinemia, which can make a person’s skin blue.
Members of the family are descendants of Martin Fugate and Elizabeth Smith who lived in Hazard, Kentucky around 1800. Both of them were carriers of the recessive methemoglobinemia (met-H) gene, and coincidentally, so was a nearby clan who had members that married and had children with Fugate descendants. Many of the children who have been born in this bloodline were born with met-H and had a blue skin color.
The Fugates and their condition was not known to researchers until the mid 20th century when a nurse named Ruth Pendergrass, along with the hematologist Madison Cawein III, made a detailed study of their ancestry. At the time, the family was living around the area of Troublesome Creek and Ball Creek in Kentucky.
Cawein treated the family with a substance called methylene blue, which he said eased their symptoms and reduced the blue coloring of their skin. He later published his research on the family and their ancestry in the Archives of Internal Medicine in 1964.
The last known descendant of the Fugate bloodline to be born with blue skin is Benjamin Stacy, who was born in 1975. It is said that his blue skin tone faded as he grew older, but he retained that complexion for most of his life.
In the 1980s and 1990s, the Fugates dispersed from their home region, and as a result the family gene pool became much more diverse, thus decreasing the chances that this recessive gene will return.
Dr. Ayalew Tefferi, a hematologist from Minnesota’s Mayo Clinic, says that this is an incredibly rare condition that is not usually seen in real life.
“You almost never see a patient with it. It’s a disease that one learns about in medical school and it’s infrequent enough to be on every exam in hematology,” Tefferi told ABC News.
Inherited methemoglobinemia is a rare condition, but there are a few other people who have been diagnosed with the condition. It is believed that some of these patients could have been Fugate ancestors, but searches for direct links have proven inconclusive thus far.
In addition to blue skin, Methemoglobinemia can also cause a variety of other symptoms including headache, dizziness, shortness of breath, nausea, poor muscle coordination. Complications from the condition may include seizures and heart arrhythmias.
This condition is not always inherited either, and can sometimes be caused by environmental factors, including medications, chemicals, or food. In fact, most cases of this condition are acquired and not inherited.
In 2008, a blue-skinned man who came to be known as “papa smurf“ made headlines after his skin color changed as a result of consuming too much home-made colloidal silver.
Methemoglobinemia can also arise in patients with pyruvate kinase deficiency due to impaired production of NADH, the essential co-factor for Diaphorase I. Similarly, patients with glucose-6-phosphate dehydrogenase deficiency may have impaired production of another co-factor, NADPH, according to Wikipedia.