Folic Acid Study

A Role for Folic Acid in the Prevention of Dermoid Sinus in the Rhodesian Ridgeback

Dr John G. Roberts & Felicity A. Nicholls-Grzemski
Flinders Medical Centre & University of Adelaide South Australia

Dermoid Sinus (“sinus”), which can be single or multiple, was first reported in a Rhodesian Ridgeback (RR) in 1932. It has been the bane of RR breeders since that time and is widely believed to occur in approximately 10% of puppies. The true evidence has been obscured by the lack of a confidential reporting system and the reticence of many breeders to acknowledge its occurrence in their stock. Reputable Breeders seek early diagnosis of puppies in the first weeks of life and euthanase, or, on rare occasions, have the sinus surgically removed and the dog sterilised. Failure to remove a sinus leads later to cyst formation and potentially fatal infection.

Dermoid sinus is categorised as a “neural tube fusion defect (NTD)” by embryologists. When the neural groove, which runs longitudinally along what will be the back of the developing embryo, deepens and joins to form the new spinal cord and spinal column, the skin of the back also fuses in the midline and the spinal column and skin become completely separated. Partial failure of this process leads to dermoid sinus in the RR and human defects ranging from “dermal sinus” (an identical condition) to spina bifida occulta (hidden) to spina bifida cystica with serious paralysis. RRs do not exhibit this extreme form of NTD.

The neural tube fusion and separation process is complete in humans by day 35 post-conception, i.e. very early in the normal 280 day gestation period. As dogs have a 63 day gestation, this fusion (or failure of fusion) occurs within the first 2 or 3 weeks after conception. This very early establishment of any fusion defect is critical when considering possible preventative strategies. It is over and done with before pregnancy can be diagnosed reliably, certainly in the dog.

In July 1991 an immensely important research paper was published in The Lancet (UK). This was “Prevention of Neural Tube Defects: Results of the Medical / Research Council Vitamin Study”. This paper reported results which have changed world thinking on dietary folic acid (folate) – a non-toxic water soluble vitamin -supplementation before and during pregnancy. The study was based on earlier observations that lack of a nutritious balanced diet in the mother appeared to predispose babies to NTDs.

A large multi-country prospective trial was established. Women who had previously had a child with an NTD were recruited under strictly controlled conditions. These women were given one of four treatments commenced before conception. These were Vitamins A, D, B1 – B6, C, nicotinamide or Vitamins as above + folic acid 4 mg or Folic acid 4 mg or Iron/Calcium each taken daily until at least three months of pregnancy. Maternal diet was not controlled. A definite result, i.e. whether the foetus / baby was definitely affected or not affected with an NTD, was obtained in 1195 pregnancies. The study was then stopped because the results were so totally clear that the study could not ethically continue.

The incidence of neural tube defects in pregnancies of mothers in either of the two folic acid groups was reduced by 72% compared to the incidence in the non-folic acid groups. This information has revolutionised perinatal nutrition guidelines. The USA has recently mandated folic acid enrichment of basic grain-based foodstuffs.

This led one of us (JR) to wonder why this unique advance in human medicine might not be applied to a similar condition (sinus) in the RR.

The collaboration of a research pharmacologist / toxicologist (F.N-G) was arranged. After approval by the RRCSA a prospective open study was promoted personally, in lectures and in dog club journals. A detailed questionnaire was forwarded to interested parties. It was left to respondents whether or not they supplemented their bitches’ diets with folic acid 2.5 to 5 mg / day from the time of mating if not earlier. Details of average diet and history of sinus in the breeding pairs’ birth litters were inquired of in detail. Respondents reported, inter alia, litter size, sex of puppies, occurrence of dermoid sinus and any other congenital abnormalities.

RESULTS
To February 1996, reports of 51 litters comprising 429 puppies had been received. Subsequent reports will be included in our definitive paper for publication.

Bitches on a “normal” diet (meat, bones, scraps, commercial dog food) produced 25 litters (213 puppies), bitches receiving a high folate (high vegetable) diet calculated to yield at least 200 mcg folate / day had 11 litters (93 puppies) while folic acid tablet supplemented bitches (15) had 123 puppies.

“Risk” of sinus, based on sire and dam’s birth litter sinus incidence, was rated as “high” (sinus in the birth litters of both), “medium” if one parents birth litter was affected, “low” if neither’s birth litter had sinus and “unknown”. There was no correlation between perceived risk and the occurrence of sinus in the puppies reported in this study.

The incidence of sinus in the “normal (low folate) diet group was 16.0% The two high folate groups (diet or tablets) combined showed an incidence of sinus of 4.2%. In the high folate diet group zero incidence of sinus was reported. The folic acid supplementation by tablet group had a sinus incidence of 7.3% (Table 1).

All the differences between the incidence of sinus in the low folate control group and that in the high folate groups are statistically significant (Wilcoxon rank-sum test, Mann Whitney U-test).

DISCUSSION
The results clearly indicate that high folate levels in the diet of the breeding Rhodesian Ridgeback bitch lead to a significant and important reduction in the incidence of the NTD, dermoid sinus, in their progeny. This is analogous to the proven situation in man. A reduction of around 70% can be reasonably expected.

The small sample of high vegetable folate litters reported a zero incidence of sinus while litters receiving folic acid tablets showed a 55% reduction. Why might this difference exist? The answer is unlikely to relate to other vitamins in the vegetable diet as this was not the human experience. It is most likely due to the fact that high folate diet bitches received a continuous and automatic supply of folate during their adolescence, sexual maturity, mating and pregnancy. No one had to remember to start tablet administration or to continue it on a daily basis – all the very limited body stores of folate would be continually full as would the developing ova. The converse applied to the folic acid tablet supplementation group where the time of starting treatment in relation to the bitches cycle was sometimes not as recommended. Two bitches included in the folic acid tablet group were started on tablets at one week and ten days post mating (too late), while another bitch included in that group was commenced “on confirmation of pregnancy” (far too late). Such inclusions in the folic acid treatment group can only have reduced the observed 55% protective effect which would be expected to be higher in the face of timely or continuous supplementation.

CONCLUSION
High maternal folic acid intake in the preconceptual period and early pregnancy greatly reduces the incidence of dermoid sinus in Rhodesian Ridgebacks just as it reduces the risk of related conditions in man. A strong case can be made for either a high folate diet or continuous folic acid supplementation of “normal” diets throughout the reproductive life of RR bitches.

A Role for Folic Acid in the Prevention of Dermoid Sinus in the Rhodesian Ridgeback Dr...   Continue
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Dermoid Sinus, a breeders experience

On the 8th of july 2001, my third litter was born, out of Kwetu’s Springtime in Holland (Kana, Imp.USA) and my own Holmland Owl’s Rafiki Cali.

Cali is from a DS-free litter, in Kana’s litter there was 1 DS. Kana herself has been on a high folate diet throughout her entire life.

At first, the litter looked very promising, 6 ridged pups and only 1 faulty ridge (single crown). Unfortunatly, after a couple of days we discovered that 4 pups had a Dermoid Sinus, all in the neck area.

I was faced with a very difficult choice, whether to cull the pups or have them operated on.

I found there was very little information on DS surgery available and the few articles on the Internet were all quite old and very negative about the surgery.

After speaking with several breeders and owners of dogs that had a DS removed and a long talk with a very experienced surgeon, I learned that the surgery wasn’t in fact that traumatic and in 90 % of the cases a total succes! So I decided to give my pups a fair chance.

Since I was fortunate enough to have a long waiting list with potential puppy-buyers, I had no trouble finding the puppies a good home. I also kept one puppy myself.

The new owners were of course well informed about the DS, the surgery and the consequences of this genetic defect. They knew in advance that their puppy was not show or breed material, and had to be spayed/ neutered. All the pups were placed in wonderful homes, at the age of 8 weeks.

At the age of 12 weeks (the surgeon doesn’t like to put younger pups under aneasthesia) we had all 4 pups operated, in two days time. I was present at all procedures and able to see for myself all the DS’s being removed. Two of the pups (including my own) had a quite thick, long DS, all the way to the vertebra.

Fortunatly, they did not go into the spine. The other two were more superficial and easy to remove. One pup had two smaller DS’s, both in her neck. They were both easily removed. The pups came home with us a couple of hours after the surgery. Their recovery was amazing, that same evening we already had trouble keeping them quiet! They were not in any pain and recovered quickly from the aneasthesia.

The pups had to wear a neck-bandage for two weeks, to prevent serum built-up and could not play with other dogs for that time. In stead we took them for trips into town and walks on leash, so they wouldn’t miss out on any socialisation. They were even able to go to puppy-class as usual.

My own puppy had some swelling under the wound, but after removing the fluid once, it didn’t come back. The other 3 puppies didn’t have any complications.

After a couple of weeks, it was all over and the scars weren’t even visible anymore. The pups are now 6 months and no one can tell the diffenence between the operated pups and their siblings. I am very glad with the results and have never regretted my decision to let these puppies live. Their owners are very responsible people, who will have the dogs spayed/ neutered when they are old enough (in Europe, we don’t do early spays). The 2 pups that are not afflicted will also be spayed, as is their mother. I feel very strongly that dogs that come from a high DS incidence litter should not be bred.

The cost of the surgery was about 1600 Euro, payed by me of course. But seeing those happy, healthy pups and their proud owners is worth every cent.

Kiku 7 weeks old. She had a large DS in the neck, which was not clearly visible at first sight.

Kiku in a different light, from a different angle, we now see a “suspicious” spot, where the hairs seem te have a slightly different colour and structure. When you feel the spot, there seems te be a small “lump” under the skin.

 

 

 

When the skin is lifted, the DS is clearly visible, as a “thread” which runs down from the skin to the spinal cord. Also note the “dip” in the skin.

when the area is shaved, the exit of the DS is clearly visible. This particulair one has two exits!

a different puppy, with a smaller DS. There was absolutely nothing to see from the outside. But when she was shaved there was no doubt, the exit is there.

Kiku, prepared for surgery.

The DS is the white “thread” on top of the surgeons finger.

The DS has been separated from the surrounding tissues.

The neck bandages didn’t really bother the pups…

Some serum built up, despite the bandage. It had to be removed only once though.

This is the puppy that had 2 DS’s. She healed without any complications.

Note, this article is in no way meant as an advertisement for DS surgery. The decision whether to cull or operate is up to each individual breeder. I do believe however, that the decision should be made based on facts and information and not on the slightly one-sided information that has been available up to now.

Also, I cannot stress enough that ALL pups should be placed with responsible owners, that do not breed dogs that have any kind of genetic problem.

Anke Terbruggen – The Netherlands 20-01-2002

PS – pictures and text can be copied freely and without permission from the author.

Kiku 6 months old. There isn’t even a scar anymore.

On the 8th of july 2001, my third litter was born, out of Kwetu’s Springtime in...   Continue
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Dermoid Sinus Rhodesian Ridgeback – 2

Extracted from: “South African Rhodesian Ridgeback Club, Ridgeback Review”

The formation and significance of Dermoid Sinus

The Rhodesian Ridgeback is a modern breed of dog that originated in the late nineteenth century, by the crossing of indigenous Hottentot dogs with various European breeds introduced into the Cape by the early settlers.

The breed standard was established with the formation of the Rhodesian Ridgeback Club of Bulawayo in 1922. The main characteristic of the breed is, as its name implies – a ridged back, which is formed in the hair/coat along the top midline of the dog’s back. The ridge is formed by hair, which grows in the opposite direction to the hair of the surrounding coat.

Breeders of Ridgebacks are aware of a well-known defect which occurs in the breed, the Ridgeback “Cyst” or as it is more correctly named in the scientific terminology, the Dermoid Sinus. (Dermoid – arising from the skin, Sinus – a cavity or channel).

Dermoid Sinuses are narrow tube-like structures, which are derived from a skin defect. They penetrate from the skin surface to varying depths downward into the muscles and towards the spinal cord. They are situated in the midline of the neck and croup, which is in front and behind the area occupied by the ridge (Fig 1).

Fig 1: Areas marked X indicate the sites at which dermoid sinuses may develop.

This is the only known congenital defect that occurs regularly in the breed. (Congenital means that the defect is formed before birth). When considered as a defect in the dog family as a whole, Dermoid Sinuses occur only very rarely in dogs, other than Ridgebacks or Crossbred Ridgebacks. It must therefore be obvious that it is an inherited defect which has become widespread in the “blood lines” of the breed as a result of the early selective breeding of the original stock from which the Ridgebacks of today have been produced.

The incidence of the defect throughout the breed is not known, as the recording of the numbers of Dermoid Sinus affected pups in litters has not been done on a scale large enough to enable a statistical analysis to be carried out. In fact, the occurrence of Dermoid Sinus affected pups in the litters of breeders has been kept confidential, as most breeders feel that there is considerable stigma attached to dogs and bitches amongst whose offspring Dermoid Sinus affected puppies occur.

At this point I would like to state that with the present situation of breeding with selected outstanding dogs and bitches, no breeder without a program of progeny testing can be sure that his “blood line” is free from the hereditary Dermoid Sinus. (The hereditary aspects of the condition will be dealt with in part two of this article). Thus, every purchased Ridgeback may be considered a potential carrier of the condition.

The formation of Dermoid Sinus

To understand the way, in which a Dermoid Sinus is formed, it is necessary to have some idea of how the embryo develops from a single fertilized egg cell in the womb of the bitch. Dermoid Sinus is a congenital defect that arises from a defect in the development of the embryo of a puppy.

A fertilized egg resulting from a successful mating is a single simple cell. From this cell a puppy consisting of millions of specialized cells, which constitute the tissues and organs, must be formed in 63 days.

Fig 2: Early stages of cell division.

A: Single cell of fertilized egg.

B: 2 cell stage.

C: 4 cell stage.

D: 8 cell stage.

E: Multi-celled Spherical Mass, many cell divisions later.

This process in accomplished by a rapid increase in the number of cells by cell division. The fertilized egg (a single cell) divides into two cells and subsequent divisions each double the previous number of cells, so that the numbers very rapidly increase. In the ten successive divisions, 1042 cells are produced, and it can be seen that, by this means, the total number of cells is soon very large.

The next stage is the organization of the mass of cells produced to form a puppy. The organization process, which takes place for about the first three weeks of pregnancy, is called the embryonic development. When the embryo is fully developed, a complete miniature puppy is formed which now becomes known as a foetus. The next six weeks of pregnancy only results in the increase in size of the foetus to its normal birth size.

Dermoid Sinuses arise from a defect in the development of the embryo. Cell division gives rise to a spherical mass of cells. The outer layer of these cells will eventually become the skin of the puppy. Another part of the body also develops from this outer layer of cells. This is the brain and the spinal cord, which runs from the head to the base of the tail. The problem now is – how does the outer layer of cells give rise to the brain and the spinal cord?

This is accomplished by the formation of a long groove over half the surface of the spherical mass of cells. The groove deepens and then its outer edges close together giving rise to a tube-like structure. This tube-like structure which is later to become the brain and spinal cord, sinks deeper below the surface layer and becomes detached from it. This process is shown in Figure 3.

Fig 3: Schematic Formation of Brain and Spinal Cord

A: Formation of groove on surface of sphere of cells as seen from above groove.

B: Section through X-Y to show outer layer of cells folding inwards.

C: Deepening of the fold

A: Closing over of edges of the groove.

B: Closed.

C: Separation of outer layer (skin) from tubular structure (spinal cord).

Dermoid Sinuses occur when small areas of attachment between the outer layer of cells (the skin) and the tubular structure (later to become the brain and the spinal cord) remain.

In the puppy this defective separation of the embryological tissues is present as a thin tubular attachment extending from the skin of the midline of the top surface of the dog to the deeper tissues below, and as deep as the spinal cord in some cases.

The depth to which this tubular skin defect penetrates is the criterion used for the classification of four types of Dermoid Sinuses, shown in Figure 4 below.

Cross section through a dog’s neck Types of Dermoid Sinuses

TYPE I Penetrates below skin surface, its fatty tissue overlying the neck muscles.

TYPE II Penetrates into the muscles of the neck.

TYPE III Penetrates to supraspinous ligament, running over the top of the vertebrae.

TYPE IV Penetrates to the spinal cord between the vertebrae.

The significance of Dermoid Sinud

The detrimental effects of Dermoid Sinus are not just concerned with the fact that a visible anatomical defect is apparent in affected animals, but rather the complications which can arise as a result of a Dermoid Sinus becoming infected with bacteria.

The narrow tube of skin which descends below the skin surface is lined with all the normal skin structures and of special significance are : hair; sweat; and oil glands.

The thin central cavity, which runs down the Dermoid Sinus, becomes filled in time with hair, skin oil and skin scales. The contents usually become an ideal medium where bacteria, which are normally present on the skin, may grow. They gain access to the material through the small pore-like opening at the point of attachment of the Dermoid Sinus on the skin surface.

The accumulated skin secretion undergoes a process of putrefaction and the skin barrier of the Sinus walls breaks down and bacteria invade the tissues deep below the skin surface. This usually results in the formation of an abscess, which eventually ruptures to the outside and drains as a chronically discharging purulent wound.

Extensive surgical and medical treatment may be necessary to clear up such a complication and in some cases septic dermoid sinus may be unresponsive to treatment.

If a Dermoid Sinus is recognized in a dog before it becomes septic, it can be removed surgically, with a good chance that no further complications will occur. In most cases, however, owners of animals are not aware of the presence of a Dermoid Sinus and shortly thereafter sepsis almost always sets in. Subsequently, the owners are obliged to obtain veterinary treatment to resolve the distressing complications. This may be costly to the dog owner and embarrassing to the breeder when it is pointed out that he has sold a dog with a latent defect.

Diagnosis of Dermoid Sinus

In the puppy, Dermoid Sinus can be detected by raising the skin in a longitudinal fold along the top midline in the area in which Dermoid Sinuses are known to occur (i.e. in front of and behind the ridge). If the skin fold is raised with one hand and the skin allowed to slip back and forward between the thumb and forefinger of the other hand the presence of the Sinus can be felt as a thin cord-like structure between the two layers of skin (Fig 5)

Figure 5: Diagnosis of Dermoid Sinus

Feeling for presence of Dermoid Sinus by sliding longitudinal fold of skin between index finger and thumb. Raising the skin fold in this way tenses the tissues and a Dermoid Sinus will be pulled tautly between its skin attachment in the top midline and its attachment in the muscles below.

The diagnosis can be confirmed by shaving the hair from the skin over the point at which the Dermoid Sinus is attached. A small pore like opening in the skin from which a small tuft of hair protrudes is usually seen. This is the opening of the Dermoid Sinus on the skin surface. The older the puppy, the thicker the Sinus will be and the more easily it may be recognized.

It must be realized, however, that the recognition of a Dermoid Sinus in puppies may not always be as easy a procedure as the above description may suggest. If it is missed, a Dermoid Sinus may lie dormant for years before it comes to the notice of an owner by becoming septic. If in doubt the professional assistance of a Veterinarian should be obtained.

An excellent site showing the dermoid sinus in pups and the operation undertaken to remove those sinuses can be found at

Holmland Owl’s Rhodesian Ridgebacks

with many thanks to Anke Terbruggen of the Netherlands for making the information and pictures freely available to all.

Extracted from: “South African Rhodesian Ridgeback Club, Ridgeback Review” The formation and significance of Dermoid Sinus...   Continue
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Dermoid Sinus in the Rhodesian Ridgeback – 1

By Diane Jacobsen
4561 Todd Road
Sebastapol, CA 95472-5227
dijs@aol.com

(These two articles are also located on the RRCUS site at www.rrcus.org)

The dermoid sinus (D.S.) has been known by many names, a few of which are dermoid cyst, hair cyst, and African cyst. It is a sinus, in that it is tubelike and does drain, and dermoid because it is skinlike. It may or may not contain hair follicles or be lined with hair. As the hair sheds on the outer coat of the pup, so does the hair inside this tube. The body’s natural response to dead material is to flush it out and thus the serum builds up and expels the debris., Not all of the dermoid sinuses are true tubes. Some are not hollow and the serum and debris cannot drain. In these cases an abscess forms and the resulting swelling that accompanies can rupture the skin. This results in a very painful situation for the pup. At its worst it is life threatening.

The D.S. is generally found on the midline of the neck, back, and tail along the spinal column. Although rarely found in the ridge there have been several cases noted. Dermoid sinuses have also been noted on ridgeless puppies.

The D.S. is a congenital condition, meaning that it is present at birth. It can be palpated on the newborn pups, and the affected pups identified. The affected pups should be put to sleep or if they are to be kept, surgery to remove the D.S. should be performed before sending them to their new homes. The affected pups are pet stock only and should not be considered as breeding material.

To find the D.S. you must palpate along the midline of the spine, starting at the top of the head close to the occiput (bump) bone. To do this you may pick the pup up and hold it in the cup of your hand or palpate as the pup is sleeping. Take the other hand and envision yourself picking up a baby kitten by the scruff of the neck with your thumb and forefinger. Exert enough pressure to feel, but not enough to bruise. Use your whole hand as one unit, pulling first up toward the nose and then down toward the tail. The skin will stretch quite a bit in both directions. Do not roll the skin through your fingers. The fingers remain exactly where you placed them on the skin. The D.S., being attached on the top to the skin and at the base to the spinal cartilage, will slip through your fingers. A large D.S. will feel like a wet noodle and a finer D.S., like a small string. Reposition your fingers on the neck just below the starting spot and repeat this process. Continue to work your way down the neck and back to the tail.

At the tail it is very difficult to raise enough skin to palpate effectively. It is best to use your thumb in this area. With fingers underneath the pup supporting it, place the flat of your thumb over the spinal column at the pelvic area. Push skin first to one side and then back to the other side. Again, remember that the D.S. is attached and will slip under your thumb. This will feel like a squiggly noodle on a larger, longer D.S., or just an area that simply will not move at all on a shorter D.S. If you do not feel anything by sliding the skin from side to side, try sliding the skin toward the nose and then back to the tail, taking care to slide the skin, not your thumb.

As you palpate the area over the shoulders, you may feel connective tissue that holds the skin to the shoulder area. The tissue is heavier in this area than in the other areas of the spinal column. It will feel flat and you will not be able to trace it from the area close to the muscle all the way to the skin, whereas the D.S. is easily traced from the muscle to the top of the skin and feels round.

The D.S. can be visually detected by looking for a group of hairs that protrude straight up out of the hair coat of the pup. When you see this, the pup should be palpated for a D.S. The hair can also be shaved at this site and upon examination, a small dimple will be revealed. By moving the skin back and forth, the dimple will become more apparent as the anchor of the D.S. will pull the skin down more.

The D.S. can be surgically removed. It is advised that a vet be contacted that is familiar with this condition and has performed this operation before. Dermoid sinuses are not alike in their makeup and it is impossible to tell which ones are easily removed or which ones go to the spine. They can wrap around or enter the area of the spinal cord, which makes them almost, if not impossible, to remove. In cases such as this some success has been achieved by folding the D.S. over and tying it off, but some have had regrowth. Since there is no way to detect which type of D.S. that the pup has, instructions to the vet should include that if the D.S. is not completely removable, the pup be put to sleep. D.S. pups should not be promised to a new home until after the surgery.

The healing process can be as traumatic as the operation itself. In the simple cases that remove easily, there will be little or no serum build-up in the surgical area. In the more complicated surgeries, where the tissue damage has been more severe, the serum will start building up as soon as the surgical site heals over on the top of the skin. Usually this will be on the fourth or fifth day. This requires aspiration with a large guage needle and syringe, sometimes three or four times daily, to remove the serum build-up. This can last for three to 10 days after surgery.

Pups that have had surgery must be removed from the litter to prevent damage to the surgical site. As puppies play, they grab and shake areas of skin on the other pups. If they were to grab and shake over or near the surgical site, damage would occur and the serum buildup would become a bigger problem.

Dermoid sinuses have been detected on other parts of the body, but are not as commonly seen as on the midline of the spine. A few have been noted on the head, attaching to the skull or the base of the ear. Another area of note is on the neck under the ear or on the front of the neck. Sometimes these can be dermoid sinuses and sometimes they are skin tabs.

The exact mode of the inheritance of the D.S. is not known. It is thought to be polygenic (multiple genes), rather than simple dominant or recessive. It has been noted that there can be carriers, or individuals that produce more dermoid sinuses than their littermates. Some lines are relatively D.S. free. Dogs that are subjects of D.S. are not candidates for a breeding program. The surgery removes the visual defect but not the genetic one. Pups having had surgery to remove a D.S. are eliminated from the conformation ring as per the AKC rules, which clearly state that a dog that has been surgically altered cannot compete.

The ethics of breeding require you to put the best possible representative of the breed out there. It should not only look like a Rhodesian Rideback, but it should be as healthy and sound as possible. As the D.S. is a very serious unsoundness, much thought should be given in your decision of the disposition of a D.S. puppy. If you decide to keep and operate on a D.S. subject, care must be taken to assure the pup of a home that will spay or neuter. Euthanasia is a permanent solution.

[Note: Because of the D.S., avoid injections in the area of the top of the neck and shoulders. Occasional reactions to vaccines can produce an inflammation that resembles a D.S.]

Dermoid Sinus – A Summary by E. Clough, V.M.D.
1010 Daniel Webster Highway
Merrimack , New Hampshire 03054

Introduction

Dermoid sinus (D.S.) was first used to describe the Rhodesian Ridgeback skin anomaly by Steyn, et al. This skin condition has also been called trichiasis spiralis, dermoid cyst, dermoid inclusion cyst and epidermal inclusion cyst. All of these terms have some applications; however, Dermoid, skin-like sinus, channel or fistula; (cyst means sac, i.e., not open to the surface) is most applicable. The Rhodesian Ridgeback Club of the U.S., Inc. prefers to use D.S. to describe the condition.

Description

No reports have been located which substantiate the author’s impression that D.S. has been found in other breeds. Dermoid sinus included in the ridge has been reported only once. They also occur in the sacral (rump) area and in this location are sometimes connected to the dura (spinal cord covering). This is not the case in the more common cervical (neck area) D.S. which connects the skin to the dorsal spinous ligament (the ligament which connects the top parts of the vertebrae). One or more D.S. may occur in the same animal. These sinuses are congenital (present at birth) and can be palpated (felt) as cords running between the skin and the spine. They form a small external opening which can be readily seen once the hair has been shaved.

Histologically (microscopically) the sinus is a thick-walled tube composed chiefly of fibrous tissue and lined with stratified squamous epithelium (skin cells). The surrounding connective tissue may or may not contain hair follicles, sebaceous glands and sweat glands which open into the lumen (hollow center) of the sinus. In uncomplicated cases the sinus is filled with sebum (oil), skin debris and hair. Once infected with bacteria the resulting inflammation and abscessation can lead to myelitis and encephalitis (swelling and infection of the spinal cord, its covering, and the brain). The reason for discrimination against animals with D.S. is the almost inevitable abscess which forms.

Heritability

Although not well understood, transmission of D.S. seems to be a dominant, polygenic problem with inconstant penetration. Another geneticist thinks that D.S. is due to a single completely recessive autosomal gene. This is not likely because normal parents do produce pups affected with D.S. Because of the genetic complexity and the difficulty in arranging, coordinating and collating the breeding studies necessary to prove the heredity of D.S., it is unlikely that we will be able to substantiate the exact mechanism of genetic transmission. There is a widely held belief that breeding Ridgebacks with D.S. produces an increased prevalence of pups with D.S. The R.R. Club of the U.S., Inc. believes that this could be substantiated if breeders had accurate records which could be collated and computed. It is our belief that careful controlled breeding studies would prove the inheritance of D.S. to be not only complex but also inter-related with other characteristics. Therefore, the likelihood seems to be remote that we will ever have Ridgebacks which are entirely free of D.S.

Because selective breeding will unquestionably reduce the prevalence of D.S., but probably not eliminate its occurrence, and because the condition results in difficult to treat abscesses unless surgically removed, it is our opinion and strong recommendation that dogs which have D.S. not be acceptable as show or breeding candidates. Surgical correction can be accomplished; however, culling at birth is a more humane way to handle the affected pups.

References

  1. Antin, I.P.: Dermoid Sinus in a Rhodesian Ridgeback Dog. J.A.V.M.A., Vol. 157 No. 7, (1970): 961.
  2. Burns, M. and M.N.Fraser: Genetics of the Dog. J.B.Lippincott Co., Philadelphia PA (1966): 84.
  3. Hawley, T.C.: The Rhodesian Ridgeback Craft Press, Pretoria, S.A., (1957): 53.
  4. Hofmeyr, C.F.B.: Dermoid Sinus in the Ridgeback Dog J.Small Animal Practice., Vol. 4. Suppl. (1957): 5-8.
  5. Lord, L.H.; A.J.Cawley and J.Gilray: Mid-Dorsal Dermoid Sinuses in Rhodesian Ridgeback Dogs – A Case Report. J.A.V.M.A., 131 (1957): 515-518
  6. Lutman, F.C.: How to Raise and Train a Rhodesian Ridgeback. T.F.H. Publications, Jersey City, NJ (1966).
  7. Personal communications from numerous Rhodesian Ridgeback friends.
  8. Severin, G.A.: Inheritable and Congenital Diseases in Dogs. Dog World (December 1974).
  9. Steyn, H.P. J. Quinlan and C. Jackson: A skin Condition seen in Rhodesian Ridgeback Dogs: Report on two cases. J.S.A.V.M.A. X(4), (1939): 170-174.
By Diane Jacobsen 4561 Todd Road Sebastapol, CA 95472-5227 dijs@aol.com (These two articles are also located...   Continue
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Juvenile Myoclonic Epilepsy Rhodesian Ridgeback

Juvenile Myoclonic Epilepsy Rhodesian Ridgeback Type (JME)

Juvenile Myoclonic Epilepsy Rhodesian Ridgeback Type (JME) is an inherited disorder characterized by myoclonic jerks and photosensitivity. JME in Rhodesian Ridgeback dogs is a canine equivalent to the human form of JME, with which it shares the same symptoms and age of onset. These similarities made the canine equivalent of this disorder important study model and contributed to the identification of causative mutation.

Characteristics and Symptoms

Studied affected dogs displayed frequent myoclonic jerks or twitches, which start to occur around 6 months of age. Owners of the affected dogs described the myoclonic jerks as severe startling or even resembling an electric shock. The myoclonic seizures can be triggered by visual stimuli, such as light flashes, a sudden incidence of light or flashing light on the sea waves. Photosensitivity was recognized in 35% of dogs. The twiches mostly occur when the dog is in the relaxed state, drowsy or when falling asleep or napping. Twitches can occur also during sitting, standing or walking. There were no noticed changes in the behavior. The myoclonic jerks were mostly limited to the trunk, proximal limb musculature, cervical musculature producing nodding movements of the head, and the face. The intensity can vary between events and affected dogs. After the seizure, the dogs seem confused and scared. Due to the seizures, sleep among those dogs was impaired. The frequency of the twitches can go up to 150 twitches per day. Affected dogs are usually euthanized upon owner’s request.

Genetics

Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs (JME) is caused by a 4-bp deletion in the exon 2 of the DIRAS1 gene, causing a frameshift and a loss of the stop signal. Research among other breeds affected with epilepsy revealed that this mutation is specific only for Rhodesian Ridgeback breed. A carrier rate of 15% was determined.

The expression of the DIRAS1 is limited to the brain and heart and it is suggested that DIRAS1 protein is needed for acetylcholine transmission at neuromuscular junctions and neuronal development. Nicotinergic cholinergic activity influences brain excitability and cognition, regulates the excitatory/inhibitory switch during neuronal development, stimulates glutamate release from thalamocortical terminals, and maintains nonrapid eye movement sleep by low levels of acetylcholine. Abnormal DIRAS1 function could alter cholinergic neurotransmission or formation of neuronal circuits and network assembly in the developing brain resulting in myoclonic epilepsy and photosensitivity.

Juvenile Myoclonic Epilepsy Rhodesian Ridgeback Type (JME)is inherited in an autosomal recessive pattern. Healthy parents of affected puppy are obligate heterozygotes and therefore carry one mutant allele. Heterozygotes have no symptoms. Dogs homozygous for the mutation will display the symptoms of the JME. At conception, when mating two carrier dogs, each cub has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.

Test Juvenile myoclonic epilepsy (JME)

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Juvenile Myoclonic Epilepsy Rhodesian Ridgeback Type (JME) Juvenile Myoclonic Epilepsy Rhodesian Ridgeback Type (JME) is an...   Continue
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Test for Ridge Disposition in Rhodesian Ridgeback

Genocan & Ridgeback International Research Program
Test for ridge disposition in Rhodesian ridgeback

The Rhodesian ridgeback’s distinguishing feature is the ridge of hair running along its back in the opposite direction from the rest of its coat. This characteristic is genetically determined and governed by the dominant inheritance. To understand dominant inheritance, it is necessary first to realize that every dog has inherited from its parents, two copies of each gene (one from its mother and one from its father).

Dominant inheritance means that if the puppy inherited the ridge gen just from one parent, there ridge is formed on the puppy´s back. In this case, the dog with only one ridge gene is called heterozygote (Rr). If the dog inherited ridge gene from both parents, the dog has two ridge genes, will form a ridge on the back and is called dominant homozygote (RR).

However, in the litter there may ridgeless puppies. Ridgeless puppies are born to two heterozygotes (male and female dog with only one ridge gene). Statistically, in a litter of two heterozygotes there will be born 25% ridgeless puppies .

However, according to the test results in practice, it appears that the ridge genetics in Rhodesian ridgebacks is not so simple and is characterized by incomplete manifestation of ridge gene. This means that all dominant homozygotes have ridge. Also, approximately 90% of the heterozygotes have ridge, but 10% of the heterozygotes are ridgeless. Very likely, the ridge gene is suppressed and ridge is not formed on the back. All individuals who lack ridge gene (rr) are ridgeless.

In collaboration with the Veterinary Research Institute in 2014, we have for the first time developed the genetic test, which distinguishes dominant homozygotes (two ridge genes) from heterozygotes (one ridge gene). This is the most accurate way how to predict birth of ridgeless puppies, if both parents are tested (see. Table below). Our test determines whether and to what extent there will ridgeless puppies in a litter!

Further, it was also observed the association between genetic disposition for the ridge and the occurrence of dermoid sinus. According to the research, dermoid sinus occurs approximately 5 times more often in dominant homozygotes. Our test may reduce the incidence of dermoids in Rhodesian Ridgebacks by a controlled selection of tested individuals for mating.

We have  developed the genetic test, which distinguishes dominant homozygotes (R/R – two ridge genes) from heterozygotes (R/r – one ridge gene). Using our genetic test, a breeder may accuratelly predict birth of ridgeless puppies (see Table below).

Test for ridge disposition in Rhodesian ridgeback

Genocan & Ridgeback International Research Program Test for ridge disposition in Rhodesian ridgeback The Rhodesian ridgeback’s...   Continue
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