Ehlers-Danlos syndrome with congenital herniae and pigeon breast.
- British Journal of Surgery 05/1969; 56(4):255-9. · 4.84 Impact Factor
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ABSTRACT: KID syndrome is a rare genodermatosis characterized by keratitis, ichthyosis, and sensorineural deafness. Although the dermatological, ophthalmologic, and sensorineural defects are emphasized in the literature, oral and dental evaluations are so superficial. In this case report, dental and oral symptoms of a three year and five months old boy with KID syndrome, suffering severe Early Childhood Caries (s-ECC) and dental treatments done under General Anesthesia (GA) were reported.Case reports in dentistry. 01/2013; 2013:618468.
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ABSTRACT: Joint stiffness is a major manifestation of joint disease. Nevertheless, an extensive review of the literature reveals that little has been done to characterize joint stiffness quantitatively or qualitatively. A method is described whereby joint stiffness can be measured in precise physical terms. The major components of joint stiffness in normal and arthritic subjects are elasticity and plasticity. Viscous stiffness is small, and friction is negligible even in badly damaged joints.Rigiditate articular es un major manifestation de morbo articular. In despecto de isto, un extense revista del litteratura revela que pauco ha essite facite pro characterisar rigiditate articular quantitativemente o qualitativemente. Es describite un methodo que permitte le mesuration de rigiditate articular in precise terminos physic. Le major componentes de rigiditate articular in subjectos tanto normal como etiam arthritic es elasticitate e plasticitate. Rigiditate viscose es pauco importante; friction es negligibile mesmo in articulationes ques es severmente lesionate.Arthritis & Rheumatology 12/2005; 3(4):328 - 340. · 7.48 Impact Factor
AUG. 15, 1959
It should perhaps be explained that many of the"gaps "
were due to interruption of immunizationduring a polio
Injection-Disease Time Lapse.-The lapse of time
between the date of last whooping-cough injection and
the development of whooping-cough was 1.7years in the
doubtful group and 1.6 years in the confirmed group.
Actually the shortest time lapse in these cases was four
months and the longest 35 months.
Age at First Injection.-The average age of the
affected children at their first injection was 3.7 months
in both the confirmed and the doubtful group, whereas
the average age for the whole group was 3.9 months.
Blood Results.-Only 10 of the 33 children who
developed whooping-cough had been bled at the age of
15 months and had had their pertussis agglutination titres
These varied from 1/20 to 1/ 1,280, from
which it may be concluded that agglutination titre is no
reliable index of protection against whooping-cough.
This agrees with the findings of Horton and Standfast
Home Contacts.-In our follow-up questioning the
parents of 35 infants reported that their child had been
a home-contact with another suffering from whooping-
Unfortunately we have no information on the home-
contact rate in respect of the 22 almost certain cases and
11 doubtful ones, although, of course, as they developed
the disease they must have been in contact somewhere
with an infected child.
Notification Rate.-Of the 22 definite cases, only 5
were notified in our area.
notified out of the area, but this still leaves 10 definite
cases not notified in their own area.
wary, therefore, of accepting notification incidence as a
reliable measure of whooping-cough prevalence.
diphtheria and pertussis in early infancy.
received three doses of whooping-cough vaccine
monthly intervals, followed by two doses of P.T.A.P.
The other group received three doses of combined
formol-toxoid and whooping-cough vaccine.
subsequent three years no significant difference was
found in the frequency of undoubted whooping-cough
in the two groups.
Since, however, 22 children did
develop the disease some 19 months after the end of
primary immunization, a booster dose at the age of
15-18 months seems to be recommended. As whooping-
cough is a more serious disease in very young babies,
it might be thought advisable to give the first injection
at 2 months or even younger in view of the fact that
those immunized at 2 months appeared to be as well
protected as those whose first injections were given at
3, 4, or 5 months.
Thanks must be accorded to Dr. G. Stewart, County
Medical Officer, Essex, and to Dr. F. Groarke, Area Medical
Officer, Barking, for permission to carry out the work. We
especially the invaluable help of Mr. Brian in the collection
of blood samples, and of Mrs. Pratt, the nurse who assisted
at these sessions.
Thanks are also due to Mrs. Tidbury and
Miss Valerie Harper for many hours of cheerful and willing
Horton, J. M., and Standfast, A. F. B. (1953). VI International
Congress Microbiology, Rome.
Spiller, V., Barnes, J. M., Holt, L. B., and Cullington, D. E.
Another 7 may have been
One should be
Brit. med. J., 2, 639.
Ehiers-Danlos Syndrome with Congenital
Herniae and Pigeon Breast
The Ehlers-Danlos syndrome, described by Ehlers in
1900 and by Danlos in 1908, is rare.
features are: (1) hyperelasticity of skin; (2) friability of
the skin and the blood vessels, with a tendency for
wounds to gape and a susceptibility to intracutaneous
or subcutaneous haemorrhages, even from trivial trauma,
or occasionally to visceral haem.orrhages; (3) profuse
extensibility of joints; (5) frequent presence of tiny
mobile subcutaneous nodules, probably of a lipomatous
nature; and (6) familial incidence of one or more of
the above features.
A 3-year-old French Canadian boy was admitted to
Ottawa General Hospital on July 6, 1957, because of a
lacerated injury over the right knee.
were apt to cause skin cuts, lacerations, bruises, and bumps,
and he had numerous scars over his body.
prematurely and had congenital umbilical and inguinal
The umbilical hernia was repaired.
accident; the wounds gaped after the removal of only two
stitches on the fifth day.
His father's skin was soft, doughy,
and slightly hyperelastic; his palms and soles were soft,
his fingers could be slightly overextended, and his feet were
abnormalities were found in other members of the family.
On physical examination the boy, though mentally alert,
was seen to be somewhat underdeveloped, being 2 ft. 10 in.
(86 cm.) in height, and weighing 27 lb. (12.2 kg.).
circumference was 20 in. (51 cm.) and the fontanelles were
He could stand and walk normally.
pigeon breast (Fig. 1), and there were numerous scars all
over his body, mostly on the face, head, left arm, knees,
legs, and feet.
Some of the scars appeared to be due to
stitched or unstitched wounds.
particularly over the lower abdomen and the forearms.
There were a few bruises. A fresh lacerated gaping wound
was seen across the front of the right knee.
T The skin was doughy, soft, velvety, and elastic, and could
be easily stretched for about 1 to 2+ in (2.5 to 6.4 cm.) over
the arms, forearms (Fig. 2), thighs, and legs.
the skin immediately returned to its position, like a piece
subcutaneous nodules were palpable. The mucus membrane
was not elastic.
The child had large bilateral, reducible, indirect inguinal
herniae, and the scar of the repaired umbilical hernia was
Even minor injuries
Since birth his
. He was
At the age
1 year he received multiple lacerated injuries in a car
He had a
A few scars were papery,
When let go
1 .-Hyperextensible k
176Auo. 15, 1959
The limbs were hypotonic. The fingers (Fig. 3) and toes
could be easily overextended by 180 degrees or twisted
without any discomfort or pain. The knees (Fig. 1), elbows,
wrists, and ankles could also be overextended.
lateral movements were possible at the knees.
Urinalysis, leucocyte, erythrocyte, and platelet counts,
bleeding and clotting times, and haemoglobin were normal.
Rumpel-Leede sign was negative.
FIG. 2.-Hyperelastic skin of the forearm.FiG. 3-Extremely hyperextensible
Skin Biopsy.-Skin obtained from above the patient's
right knee was compared with a few control sections of skin
obtained at necropsies from patients of about the same age
and nutritional state.
Histological examination showed an
increase in the amount of elastic tissue and a considerable
deficiency of collagenous connective tissue of the corium.
The epidermnis was wrinkled.
This case illustrates the chief features of Ehlers-
apparently have not been previously reported, were
pigeon breast and congenital umbilical and inguinal
The skin biopsy showed the usual picture
described as typical of this syndrome.
The elasticity of the skin in these cases is sometimes
Murray and Tyars (1940) reported a case
where it was possible to pull the skin from the sternal
region to cover the mouth.
skin is very prone usually leave papyraceous scars which
The fingers and
The joint instability can cause
subluxations, dislocations, sprains, and a tendency to
fall on walking which may lead to repeated fractures,
as observed by Johnson and Falls (1949).
Many other abnormalities have been reported
association with this syndrome,
opacities (Johnson and Falls, 1949); molluscoid and
1912; Weber and Aitken, 1938); redundant knuckle
pads over the toes and tumour-like formations at points
of friction (Ross and Dooneief, 1957); pectusexcavatum
(Smith and Hornisher, 1954) ; hyperelastic mucous mem-
brane (Gilbert-Dreyfus et al., 1936); friable mucosa
diverticula of intestine (Jacobs, 1957).
increase in elastic tissue and decrease in collagen of
The wounds to which the
toes may show
(Shaw and Hopkins,
usually unremarkable on histological examination.
The cause of this syndrome is not understood. Some
fibromatosis, abnormalities of calcium or carbohydrate
metabolism, and often prematurity.
dominant. Coe and Silvers (1940) reported affection of
(1949), in a comprehensive study, reported
a family pedigree covering six generations,
with 21 men and 11 women affected.
It has been suggested by Benjamin and
Weiner (1943) and others that some disturb-
ance in the embryonic mesenchyme may
be responsible for the anomalies of the
skin, which is of ectodermal origin, and of
the capsules and ligaments of the joints,
further study of the internal organs and,
wherever possible, necropsy examination
might reveal evidence of mesenchymal
dysplasia in other organs such as dissect-
ing aneurysm of the aorta and other blood
vessels and congenital anomalies of the
urinary tract as have been reported with
Congenital lenticular defects, also
associated with Marfan's syndrome, have been reported
in cases of Ehlers-Danlos syndrome.
The blood vessels, although very friable, are
The syndrome is
I thank Dr.
Conway, Professor of Paediatrics, University of Ottawa, for
his help; Dr. W. A. Walker, for the photograph shown in
Fig. I; and Miss M. Gauthier for secretarial assistance.
ZAFAR HUSAIN ZAIDI, M.B., B.S.,
Chief Resident in Paediatrics, Ottawa General Hospital;
Department of Paediatrics, University of Ottawa,
Associate Professor of
for examining the skin biopsies; Dr. D.
Benjamin, B., and Weiner, H. (1943). Amer. J. Dis. Child., 65,
Coe, M., and Silvers, S. H. (1940). Ibid., 59, 129.
Gilbert-Dreyfus, WeilL J., Martineau, J., and Mathivat, A. (1936)
Bull. Soc. mdd. H6p. Paris, 52, 1463.
Holt, J. F. (1946). Amer. J. Roentgenol., 55, 420.
Jacobs, P. H. (1957). A.M.A. Arch. Derm., 76, 460.
Johnson, S. A. M., and Falls, H. F. (1949). Arch. Derm. Syph.
(Chicago), 60, 82.
Murray, J. E., and Tyars, M. E. (1940). Brit. med. J., 1, 974.
Ronchese, F. (1936). Amer. J. Dis. Child., 51, 1403.
Ross, M., and Dooneief, A. S. (1957). N.Y. St. J. Med., 57, 2256.
Shaw, H. B., and Hopkins, P. (1912).
(Clin. Sect.), 6, 20. Cited by Coe and Silvers (1940).
Smith, H. D., and Hornisher, C. J. (1954).
med. J., 5, 1672.
Weber, F. P., and Aitken, J. K. (1938). Lancet, 1, 198.
Proc. roy. Soc. Med.
U.S. armed Forces
Vaccination against yellow fever, which is necessary for
those intending to visit a number of Central and South
American and mid-African countries, is likely to be made
more easily obtainable. Up to the present such vaccination
has only been available at Regional Blood Transfusion
storage facilities and knowledge of necessary laboratory
technique. Now that the vaccine is prepared in dried form
and may be stored in an ordinary domestic refrigerator,
local health authorities have been asked by the Ministry of
Health to offer yellow fever vaccination to those requiring
The number of centres where it can be obtained will
thus be increased if the local authorities are willing to
provide the service (Ministry of Health, No. 10, June 6).