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J Dent Res 81(7): 444-445, 2002
© 2002 International and American Associations for Dental Research


DISCOVERY!

Carl J. Witkop, Jr., MS, DDS

Jaroslav Cervenka

Department of Oral Pathology, University of Minnesota, School of Dentistry, 16-127 Moos Tower, Minneapolis, MN 55455; cerve001{at}umn.edu


   INTRODUCTION
 TOP
 INTRODUCTION
 
In December of this year, Carl Witkop would have been 82 years old. He died of a heart attack in 1993. It might be difficult for his many friends to reconcile these 82 years with the youthful image of the man we knew. His enthusiastic inquisitiveness charmed us until his last days.

He was a Michigan boy born there, graduating from Lansing High School, then from the Michigan State College with a BSc in chemistry, and then with a DDS and Master's degree in oral pathology from the University of Michigan. He often returned to his native state to fish for salmon from "the big lake", to visit with relatives, and to show his children where their family tree is rooted. Anneke, the last of the seven children born to Carl and his wife Maryann, arrived when Carl was 53.

Everyone in the fields of dentistry-stomatology and human genetics knew and respected Carl. In the study of pigment disorders, he was the pre-eminent authority. But he could also resolve and correct a plumbing problem, build a staircase, and cast gold jewelry by the method of cire perdu.

He was a bona fide expert on early American history, knew the Bible, was the first to point out that Noah was probably an albino, perhaps of the tyrosinase-positive type. (His scientific discourse on Noah was rejected by a religious scholarly journal.) While I think that Carl did not believe in any deities, he enjoyed volunteer work for a Protestant church all the years he lived in Minnesota. In the minds of most who knew him, he was the one who always helped; he was the ambassador for the advancement of others. Indeed, concern for others was his most outstanding characteristic.

Captain Witkop could tell many a war story. In World War II, he served in North Africa and in Italy, where he captured a General who was second in command in the Italian army. In 1943, he was awarded the Silver Star. After the war, while studying pathology and oral pathology, he discovered genetics and in 1962 published the book Genetics and Dental Health. This was the first volume to address the genetics of dental and orofacial disorders and traits and made Carl known around the world. Rapidly, within a few years, he established himself as an expert on the classification, inheritance, and etiology of tooth defects and the ultrastructure of amelogenesis and dentinogenesis imperfecta variants. At the same time, he became the one to consult on exfoliative cytology and pathology and the heredity of orofacial diseases. Remarkably, within the same short time, he emerged as an expert on inbreeding in human populations, and on his lifetime object of fascination: albinism and its syndromes.

Studying the Brandywine tri-racial isolates in Maryland ("wesorts", i.e., "we sort of people"), he discovered the existence of two etiologically different types of oculocutaneous albinism, the tyrosinase-positive and tyrosinase-negative forms. From Bethesda, where Dr. Witkop served as Chief of the Human Genetics Section of NIDR for seven years, it was not too far for him to travel to Brandywine to collect samples and pedigrees.

His honors and scientific recognitions (a list two pages long) illustrate his enormous versatility, multifaceted interests, and accomplishments: Director of Cleft Palate Study in Lancaster and Halifax, Director of the Dental Division of the Institute de Nutrition de Centro America y Panama, Director of the International Committee for Nutrition of Paraguay, Director of Guatemalan Study of Histidinemic-PKU-like Behavior in Children Recovered from Kwashiorkor, Consultant for the Atomic Bomb Casualty Commission in Hiroshima, President of the American Academy of Oral Pathology, and more.

Bob Gorlin (Regents Professor, University of Minnesota) remembers visiting Carl in Bethesda in the early '60s. On the way to dinner, Carl took him to his dental office to show him something remarkable. It was not an oral pathology specimen or a section of an abnormal tooth but a long row of small Dappen dishes with DOPA in which Carl had incubated hair bulbs from an albino subject to identify tyrosinase-positive or -negative albinos. Bob then succeeded in recruiting him for a professorship in the School of Dentistry at the University of Minnesota. Later, Carl became Professor of Dermatology at the Medical School as well.

Dr. Witkop published 300 papers and book chapters on topics as varied as pseudoparathyroidism, cherubism, Gardner's syndrome, congenital malformations, gingival disorders, and osteogenesis imperfecta, just to list a few. He discovered several new pathological entities and was the first to diagnose Klinefelter's syndrome by documenting taurodontism in a pre-pubertal boy. However, in what would become his last two decades, Carl concentrated his efforts mainly on hereditary disorders of teeth and different forms of oculocutaneous albinism. From NIH alone, he received over $2 million in grants. (Two of his students have advanced his studies further John Sauk in amelogenesis and dentinogenesis imperfecta and Richard King in studies of albinism on the most advanced level of molecular genetics.)

Both in science and in his personal life, Carl possessed the caliber of character that influences people. Taking me on an expedition to Nigeria to study albinism, he changed my life too, in a way. I became compelled to return to Africa many times, the victim of "mal d'Afrique", an affliction which draws one back to the suffering and magic of the Dark Continent again and again. Carl himself became enchanted by Puerto Rico and her people. It all started with a report, by Hermansky and Pudlak from Charles University, of a rare form of oculocutaneous albinism with a platelet disorder. (Hematologist Hermansky still works part time to supplement a starvation pension, and Pudlak ages outside Prague in semi-disgrace due to his infamous past as an communist functionary.) Carl and his best and true friend James G. White (Regents Professor of Hematology, University of Minnesota) named the disorder Hermansky-Pudlak Syndrome and have studied it exhaustively. The highest incidence of the syndrome was found in Puerto Rico, so Carl traveled to the island many times.

On one of our first visits to San Juan, we drove to meet the newly hired field assistant. With her small boy, she lived in a "barrio des povres", in a simple but clean adobe house with running water and electricity. Carl asked for a glass of water. She opened the refrigerator (of pre-War vintage), and in the lighted interior we saw its entire contents: one cube of queso blanco cheese, half a loaf of Wonder bread, and a plastic bottle with tap water. That was all. Immediately, Carl drove to a downtown supermarket and filled a large shopping cart to the brim with foodstuffs for that ancient refrigerator.

In San Juan, he used to stay in a hotel on the beach. It has been reported by "reliable sources" that, on most evenings, when the tourists retired with their piña coladas and "papa dobles", Carl left the hotel under cover of darkness with a bag of dog food for the decrepit stray dogs who congregated on the beach each night.

Her name was Jean E. She had immigrated from Jamaica, and in St. Paul she had the good fortune to meet Carl in a bus station on a very cold night. He brought her to his and his wife Maryann's home, where she lived for three years, enrolled in college, graduated, got a good job, and Carl even found her a husband, and now the Witkops have three more "grandsons".

I used to have a cytogenetic technician by the name of Hattie T., one of eight children of a black steelworker in Houston. We all liked her work and engaging personality, so Carl came up with a great idea and I lost a good technician. He persuaded Hattie to enroll in the dental school and helped her with admission. She now has a successful dental practice in Minneapolis.

Carl always had the welfare of his research subjects in mind: He carried hundreds of expensive sunglasses to Africa for his albinos; he founded the "Noah" support society for albinism; and he arranged financial support for albinos to study in the US and for his collaborators in Puerto Rico to upgrade their education. And so he was liked. I remember a visit to an Igbo village in Nigeria, near Lassa (where Lassa fever was first detected.) Old women surrounded Carl and insisted, only partially in jest, that he stay in the village permanently. Making a tight circle around him, bent in laughter, they threatened to kidnap him if he wouldn't agree.

He will be remembered often, if only because his name will come up again and again in medicine and science. Just a few months ago (2001), in an article by Jumlogras et al. in the American Journal of Human Genetics, "A Nonsense Mutation in MSX1 Causes Witkop Syndrome", the fundamental genetic event was identified in the etiology of the syndrome of congenitally missing teeth and dystrophic nails that Witkop discovered 37 years ago. Reading the article, I tried to imagine Carl's excitement about this discovery of a new mutation, and I thought again about his contributions to both science and his fellow men. Which was of greater significance?

One might contemplate a hypothetical world overpopulated by men like Carl Witkop. We would look forward to being born into that very kind world, from which, at the proper time, we would depart with a wide smile on even the sternest of lips.

Received February 15, 2002; Accepted May 9, 2002





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