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The Fugates of Troublesome Creek
Gregory S. Phillips, BS; Marjon Vatanchi, MD; Sharon A. Glick, MD
The beautiful and bountiful hues that decorate the human body range
widely. Blue-colored skin is not relegated to the realm of fantasy,
as illustrated by the peculiar case of the Fugate family of Eastern
Kentucky.
Around 1820, a French orphan named Martin Fugate immigrated
to Kentucky to claim a land grant on the banks of Troublesome Creek.
According to lore he bore a blue-tinted complexion, and, after marry-
ing a fair-skinned woman, 4 of their 7 children had remarkable blue
skin.
Geographically isolated, the Fugates married within their town.
The result was a significant speckling of the shores of Troublesome
and Ball Creeks with blue inhabitants. Most of the Fugate clan lived
long into their 80s and 90s without any severe illness associated with
their notable blue pigmentation.
It was not until the late 1960s that the descendants were discov-
ered by mainstream medical practice when Madison Cawein, MD, a
hematologist with the University’s Lexington medical clinic, and Ruth
Pendergass, a nurse based at the American Heart Association’s clinic
in Hazard, Kentucky, embarked for the rural areas endemic for the
blue-hued populace.
1
They procured several blood samples from indi-
viduals with blue skin, but the cause of the discoloration eluded the
researchers. Dr Cawein caught a break when he came across a report
from the Arctic Research Center in Anchorage, Alaska, detailing the
presence of hereditary methemoglobinemia among Alaska natives
caused by a loss of function mutation in the cytochrome b5 reductase
enzyme responsible for reducing methemoglobin into hemoglobin.
2
This specific enzyme deficiency spared systemic symptoms of cyano-
sis or failure to thrive; the only ailment was blue discoloration. Methe-
moglobin imparts to the blood a chocolate-like color that appears
grayish blue when observed through the light skin of many white indi-
viduals, as in the case of the Fugates. Moreover, methemoglobin-
emia’s autosomal recessive inheritance pattern explained its high
prevalence in the rural eastern Kentucky region owing to consanguin-
eous mating practices.
Armed with this realization, Dr Cawein prescribed methylene blue
to the blood sample donors, who were astonished and excited to ob-
serve their skin fade from blue to pink within a few minutes. With the
advent of local roads, the blue Fugates started movingout of their com-
munities and marrying outsiders, slowly decreasing the recessive
allele frequency in the area. The last descendant to draw attention was
a baby born completely blue in 1975, who,as a mere carrier, outgrew his
blue hue and now only exhibits cyanosis of his lips and fingertips when
exposed to the cold.
3
Although the likelihood of reemergence of this form of methemo-
globinemia is remote, the blue people of Kentucky not only demon-
strate the effect of dermatological conditions on folk history but
also serve as a reminder that skin color can span a vast rainbow
spectrum.
Author Affiliations: Department of Dermatology, SUNY Downstate Medical
Center, Brooklyn, New York.
Corresponding Author: Marjon Vatanchi, MD, Department of Dermatology,
SUNY Downstate Medical Center, 450 Clarkson Ave, PO Box 46, Brooklyn, NY
11203 (marjon.vatanchi@downstate.edu).
1. Trost C. The blue people of Troublesome Creek: the story of an Appalachian
malady, an inquisitive doctor, and a paradoxical cure. Indiana University.
http://www.indiana.edu/~oso/lessons/Blues/TheBlues.htm. Accessed May 10,
2016.
2. Cawein M, Behlen CH II, Lappat EJ, Cohn JE. Hereditary diaphorase
deficiency and methemoglobinemia. Arch Intern Med. 1964;113:578-585.
3. James SD. Fugates of Kentucky: skin bluer than Lake Louise. ABC News.
http://abcnews.go.com/Health/blue-skinned-people-kentucky-reveal-todays
-genetic-lesson/story?id=15759819. Accessed May 10, 2016.
Molecular Profiling of Multiple Primary Merkel Cell Carcinoma Original Investigation Research
jamadermatology.com (Reprinted) JAMA Dermatology June 2017 Volume 153, Number 6 513
© 2017 American Medical Association. All rights reserved.
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