Original Repository: Alan Mason Chesney Medical Archives. Victor Almon McKusick Collection
Reproduced with permission of Anne B. McKusick.
Medical Subject Headings (MeSH):
From "Musical Murmurs" to Medical Genetics, 1945-1960
U.S. Marine Hospital-Balto.
October 25, 1948
Dear Dr. Jeghers,
The prints are coming over under separate cover. They are only fair as might be expected from the fact that the Harrisburg
prints were made from Kodachromes. They do demonstrate how minimal the pigmentation may be. The pigmentation inside the mouth
in the Harrisburg cases was rather more impressive than that of the lips.
I have run across another (actually 3 more) unmistakable case of The Syndrome in the literature -- D.B.E. Foster -- "Adenocarcinoma
of the Small Intestine in Father and Daughter" -- Brit. Med. Jour. 1: 78-79 - July 15, 1944. Foster describes the cases
of a 43 year old coppersmith and his 16 yr old daughter, both of whom presented themselves to the Llandough Hospital, Cardiff,
Wales, within 3 years of each other, with intussusception. In each case a single polyp was found at the head of the intussusceptens.
He does not state with what diligence others were sought. In both cases the sections were believed to show a "low degree
of malignancy" -- hence, the title of the report.
He goes further to say: "It was noted that both patients presented a diffuse (?) brownish pigmentation of the lips and
face. On investigating the family history it transpired that the father's brother showed similar pigmentation, and he
had been a patient in this hospital in 1935 complaining of attacks of abdominal pain, with passage of blood and mucus per
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From what little perusal of the literature I have had a chance to do I certainally[sic] have gained the same impression you
have -- that familial adenomatosis of the small intestine is a quite unusual occurrence. This certainly narrows down, and
increases the diagnostic specificity of, the pigmentation.
The familial polyposis of the colon has been discussed at length by Lockhard -- Mummery, Dukic, McKenney, Jungling, Pugle
and Nesselrod, Pfeiffer and Patterson (I have the references). I have been through they their papers. They make no mention
of the small intestinal type of the disease.
There are isolated reports of adenomatosis of the small intestine in which a familial factor was not recognized and the pigmentation
not described. Such reports are:
(1) Thorel: "A Case of Intestinal Polyposis with Carcinoma of the ileum" -- Munchener Med. Wochenschrift 52: 2062
(1905) (Case of 20 yr. old male who presented with intussusception. The ileum contained 20 polyps.)
(2) Zachary Cope: "Multiple Papillomatosis of the Small Intestine Causing Recurrent Intussusception in an Adult" --
9: 558-559 1922 -- British Journal of Surgery.
(Case of 21 yr. old male -- no pigmentation described, but very sketchy report dealing mainly with technical methods used
to reduce the intussusceptions.)
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I have reviewed in part at least the literature on carcinoma of the small intestines. Ewing (Neoplastic Diseases, p. 722)
states it comprises about 3% of carcinoma of the entire GI tract. Others put the figure very much lower, e.g., the figure
of 0.47% arrived at by Mayo and Nettrour, S.G. and O., 65: 303, 1937. There have been a few reports of "multiple primary
carncinomas" of the small intestine. An early report was: C.H. Bunting "Multiple Carcinoma of the Ileum" Bull.
J.H.H. 15: 389 - 1904. (2 autopsy cases - essentially no clinical material given). Raiford. "Tumors of the Small Intestine"
Archives of Surgery, 25: 122-177, 321-350, 1932, gives a fairly good review of the subject in its broadest aspect based on
88 cases. Of the 88, seven bad benign adenomata - duodenum 4, jejunum 1, ileum 2. From the report it is hard to determine
how many of the cases were multiple. He does not refer to a familial element. He merely states: "They ususally occur singly
but may be multiple."
What would you think of including another table listing the cases, proven, probable, and possible, in the literature?