‘Feminine’ pharaoh: Dermatology professor offers theory about ancient ruler’s strange appearance

When Irwin Braverman, M.D., was asked to offer possible medical explanations for an Egyptian pharaoh’s feminine features and elongated head, it was not because Dr. Braverman is an expert in Egyptian history.

Rather, it was the Yale School of Medicine dermatology professor’s passion for using observational skills for patient diagnoses that made him the ideal choice to present on Egypt’s King Akhenaten at the 14th annual Historical Clinicopathological Conference (CPD) at University of Maryland Medical School.

Dr. Braverman could not rely on a clinical exam, medical tests or even historical information on why Akhenaten, a pharaoh during Egypt’s18th dynasty (approximately 1540 to 1307 B.C.), was depicted with gynecomastia and an elongated head in statues and carvings.

All Dr. Braverman could do was investigative work - without preconceived notions and beliefs - using existing photographs of artwork depicting the pharaoh, his children and other members of his dynasty. Akhenaten, unlike many pharaohs and their family members, had not been preserved as a mummy.

Dr. Braverman’s studies led him in the direction of a possible gene - not yet discovered - that might account for both the feminine features and oddly shaped heads that occur throughout the dynasty. The theory, which as yet to be proven by DNA testing, is in sharp contrast to what an Egyptologist presented on Akhenaten.

Observation is king

It turns out that making diagnoses on pure observation is right up this dermatologist’s alley.

Dr. Braverman realized about a decade ago that his dermatology residents and medical students made diagnoses based on their memorization of patterns. To encourage them to let go of biases and prejudices and rely more on analytic observation, Dr. Braverman took the residents to an art museum, assigned each a painting and asked them to describe what they saw.

"Following that exercise, the dermatology residents were describing in much more detail. They did not theorize or speculate. They became much better observers when we gave them pre and post tests," he says.

Dr. Braverman started doing the same with medical students, published his findings in the Journal of the American Medical Association (JAMA) in 2001, and Yale made his method a required course for first-year medical students. About 20 other medical schools have since followed suit, according to Dr. Braverman.

Match made in Maryland

Philip A. Mackowiak, M.D., professor and vice chairman of the department of medicine at the University of Maryland School of Medicine and director of medical care of the VA Maryland Health Care System, knew Dr. Braverman would be a good choice to present on the case of the pharaoh after he read, years prior to the CPC conference, about Dr. Braverman’s emphasis on observation.

"I had catalogued him away in my mind thinking that the Akhenaten question is one that concerns his portrayal in artwork. I thought [Dr. Braverman] would be the ideal person to discuss the differential diagnosis," Dr. Mackowiak says.

"There is a little bit of medical history obtained through some of the written documents. There are some hieroglyphics giving some insight into his reign and a bit about his medical history, but mostly what we were dealing with was the artwork: statues, reliefs."

Unlike traditional medical school CPCs, which involve studying interesting and mysterious contemporary cases, developing diagnoses on those cases and confirming those diagnoses with either an autopsy or specific test, the historical CPC at University of Maryland looks at the medical records of famous people of history with serious illnesses that have never been diagnosed to the public’s satisfaction.

Because these are historical figures, the bodies of most underwent no autopsy, and usually the diagnoses that experts present are theoretical, according to Dr. Mackowiak.

Investigative work

Dr. Braverman looked through his first batch of photos and remembers thinking that some would attribute the pharaoh’s features to Klinefelter’s syndrome, because the images portrayed a tall, thin man with breasts and what looked like an enormous head, elongated head.

"Some of the children portrayed at the time also had elongated heads," Dr. Braverman says. "But, with Klinefelter’s syndrome, men who have gynecomastia are not fertile. This pharaoh had six daughters."

He gathered all the pictures that he could of the pharaoh, his wife, Nefertiti, their children and all the members of this dynasty going back 150 years.

"It suddenly jumped out at me that this entire dynasty of men had elongated heads," Dr. Braverman says. "Then, I noticed that not only did Akhenaten have gynecomastia, but so did his son, King Tut, and Akhenaten’s father, grandfather and great grandfather, as well as most of his paternal grandfathers."

Dr. Braverman then came up with two theories. One, a familial gynecomastia gene, called an aromatase gene, which is inherited and produces gynecomastia in males but does not impair their fertility. When this gene is inherited by girls, they have developed breasts and wide hips at young ages.

"The statues of his little 5-year-old daughters show them with breasts and wide hips," Dr. Braverman says.

As for the elongated head, Dr. Braverman first attributed that to another genetic disease: craniosynostosis, in which the fibrous joints in the head fuse at an early age and disrupt skull formation.

Dr. Braverman made the historical CPC presentation in May 2008, based on those theories, and, days later, received a note from a professor of molecular biology at another university suggesting that the pharaoh and his dynasty could have suffered from Antley-Bixler syndrome, a rare, single genetic defect that would disrupt cranial bone fusion but cause the body to make too little estrogen.

While the suggestion did not match up, it led to a clue.

"This dynasty might have [had] a gene that has not yet been discovered that controls both the shape of the cranium and results in their making too much estrogen," Dr. Braverman says. "It turns out that the Antley-Bixler gene belongs to the same family of genes that this aromatase excess syndrome belongs to, so there is a very high probability that there is another gene that causes increased estrogen synthesis but also controls cranial structure."

About to publish his theory, Dr. Braverman says the next step is DNA testing. There are five royal mummies, available in a museum in Cairo, that would provide the DNA necessary to unlock this mystery, he says.

He hopes his work will motivate someone to pursue the definitive answer about whether these physical features are due to medical reasons or religious depictions. Dr. Braverman explains that Egyptologists believe that Akhenaten is depicted with feminine features because he and his father, Amenhotep III, believed they were creator deities, who in reality looked like men but wanted to be depicted as male and female.

That theory does not explain the elongated head, which he says Egyptologists have ignored, nor does it explain why pharaohs who did not believe that they were creator deities were depicted in the same ways.

What does all this mean?

The search for answers in this historical case does not have as much to do with dermatology as it does with medicine, Dr. Braverman says.

"When a doctor sees a patient, the doctor quickly comes to some assessment and quickly makes a diagnosis - especially in an emergency room. If most of the facts fit what he thinks it is, that is the diagnosis. Unfortunately, with some physicians, if there are some tests or facts that do not fit that diagnosis, they tend to be ignored," he says.

The take-home message for dermatologists and other clinicians, Dr. Braverman says, is that one can learn a lot from paying close attention to details.

"Whatever is the problem that you are trying to solve, try to do it with a blank mind. Do not bring preconceived notions and other information with you. Try to develop the information on what is objectively there," he says. DT