Congenital Hand and Arm Differences

Symphalangism is one type of finger stiffness; I previously written about it here. I wanted to share a few more thoughts. In addition to the classification noted in my other post, I often think of symphalangism in terms of whether or not the fingers are short. Whether the fingers are short or not, symphalangism is quite rare.

Flatt and Wood reported on symphalangism and divided it into 3 types (a long time ago- 1975, in the journal Hand)
- Symphalangism with normal length fingers (i.e. True Symphalangism)
- Symphalangism with short fingers (symbrachydactyly)
- Symphalangism with another syndrome like Aperts

The clinical examination is notable for the lack of motion of one or more of the interphalangeal joints- typically the proximal interphalangeal joint. It can be one finger or it can be many fingers. Importantly, the normal creases of the fingers are not there in symphalangism.

The arrow is pointing to the top of the PIP joint of the pointer (index) finger. Note the normal creases which demonstrate that the finger has been moving.

Kids with symphalagism lack the normal joint development and therefore lack motion and therefore lack the creases. Here is one child with symphalangism affecting both hands.

Symphalangism. This is the child attempting to make a full fist. The PIP joints do not flex (bend) much.

The other hand in Symphalangism. This is the child attempting to make a full fist. The PIP joints do not flex (bend) much.
Also note the lack of creases on the tops of the fingers.

Careful review of the x- rays show that the PIP joints have not developed in symphalangism.

Lateral view (side view) of the hand and fingers. The PIP joints have not developed in symphalangism. The arrow marks the PIP joint of the long finger (middle finger).

Charles A. Goldfarb, MD
My Bio at Washington University
congenitalhand@wudosis.wustl.edu

The opening of a new hospital or major facility is unusual in our modern healthcare system. It requires a great deal of planning, coordination, and plans for growth. That is why it is so incredibly uncommon and exciting that TWO new pediatric facilities are opening right now in St. Louis. TWO, both in the first week of June, 2015!

Saint Louis Childrens Hospital is opening a large outpatient facility about 15 miles west of the main St Louis Childrens Hospital. It is called the CSCC- Childrens Specialty Care Clinic. It is beautifully done, outside and inside, is 3 stories high and is 140, 000 square feet in size. It will be the home to specialty clinics (thus, the name) including orthopedics and hand surgery as well as 3 operating rooms. There will also be some pediatrician offices housed in the building. We are excited because it will make the St Louis Childrens Hospital team of doctors more accessible for more people.

View from highway of St Louis Childrens Specialty Care Clinic (CSCC).

A recent picture of mine of a the St Louis Childrens Specialty Care Clinic (CSCC) from the west side.

The new St Louis Shriners Hospital is opening Monday June 1st, 2015. Originally, in 1924, the Shriners opened in St Louis on the Washington University Medical School campus. 40 years later, we moved to Frontenac and now we are moving back to the Medical School Campus. The practice of medicine has changed a great deal and the needs of the new hospital are different. The 90,000 square foot, 3 story hospital has far fewer inpatient beds, more space for research, and lots of great space for taking care of patients.

New St Louis Shriners Hospital

Entry of the new St Louis Shriners Hospital

While both facilities are beautiful, what really matters is that we now have even better space for our patients- St Louis Childrens Hospital, St Louis Specialty Care Clinic (CSCC) and St Louis Shriners Hospital. I am lucky to have the chance to work in all 3 facilities and look forward starting this week!

Charles A. Goldfarb, MD
My Bio at Washington University
congenitalhand@wudosis.wustl.edu

I see a number of kids with growths on the fingers. These growth vary tremendously in size and expectations but these are technically tumors. The good news is that almost all of these finger masses are benign- meaning that they don't spread to other parts of the body. They are still concerning to the family. It is, therefore, key to have a good sense of what each mass might be so that can better understand the best treatment.

One such growth is infantile digital fibromatosis. This is a benign growth- typically a bump on the finger or fingers. It does not hurt. Often, infantile digital fibromas are small as depicted in this picture from Medscape:

However, these growths can also be much bigger and concerning. Here is one dramatic example of an infantile digital fibroma.

Infantile Digital Fibroma

Here are a couple of links with more pictures of infantile digital fibroma:

more pictures

The key step in evaluation of these bumps is be evaluated by a physician or surgeon with experience. If the correct diagnosis of infantile digital fibroma is made, observation is recommended because surgery can lead to the bumps coming back bigger (recurrence). In the case above, there was a biopsy done to make a diagnosis and the bumps did come back even bigger. Surgery for infantile digital fibromatosis is not curative and is, therefore, typically avoided. I must admit, however, that this is difficult to accept for the family AND for the surgeon. Everyone wants this to be cured but unfortunately, there is no easy answer. The good news is that over time with observation alone, many of patients with infantile digital fibromatosis will find that the lesions spontaneously get smaller or disappear.

Failla, et al nicely summarized the condition at this LINK.

Charles A. Goldfarb, MD
My Bio at Washington University
congenitalhand@wudosis.wustl.edu

Pollicization, or the creation of a thumb, is a fantastic procedure that creates a hand that is more functional and looks better. It is certainly a specialized procedure in that most hand surgeons don't perform this surgery. I do believe that this is a surgery that is best performed by surgeons that do at least several of these each year. If this is the case, the surgeon is familiar with the procedure, the specific tricks and tips in performing the surgery, and understands what to worry about. That is, the problems that can happen around the time of surgery and the problems that can appear months or years later. I have blogged several times about pollicization- read here.

Here is a recent surgery on pollicization. This case is interesting to me because the child has a thumb- but it is a really small thumb that is completely unstable (i.e., floppy) and a thumb that she does not use. In the US, most of congenital hand surgeons agree that this thumb is best treated with a pollicization (in Asia, some surgeons will stabilize this thumb). However, this is a tough conversation for the family (it is easier to discuss a pollicization when there is no thumb).

Hypoplastic thumb Type 3B

Second view of a hypoplastic thumb, type 3B

Successful pollicization

Second view of successful pollicization

So this child did well in surgery and just after surgery. The color of the thumb was good. We carefully watch kids in the recovery room and also typically overnight in the hospital. We want to make sure the thumb does not turn white (which means not enough blood flow in) or purple (which means that there is not enough blood flow out). In this case, all looked good.

Mom called 3 days later to say that she was concerned about the color of the thumb and we asked her to bring the patient in to be seen. The thumb did look slightly darker but not dramatically so. We loosened the dressing and it looked somewhat better.

Pollicization position and color of the thumb.

Slightly dark thumb after pollicization.

We elected to continue to carefully watch the patient. Rarely, in the situation when thumb clearly does not look healthy, a return trip to the operating room is required. In my experience, that has only very, very rarely been necessary and it has been immediately after pollicization.

Charles A. Goldfarb, MD
My Bio at Washington University
congenitalhand@wudosis.wustl.edu

Multiple hereditary exostosis is an uncommon tumorous condition and is capable of causing significant functional limitations. I have previously posted on MHE. While multiple hereditary exostosis in the fingers can cause deformity and limitations of finger flexion (I need to post on this topic), we worry more about the forearm. The problem is that if the two bones of the forearm don't grow at the same rate, the natural rotation of the forearm may be lost.

However, when the bones don't grow at the same rate, the best techniques for surgical correction in multiple hereditary exostosis is not clear. Multiple techniques have been described including lengthening the short ulna, correcting angulation of the radius, or 'detethering' (separation) of the radius and ulna growth. There is no question that these techniques each have a role and make conceptual sense. And all may allow the x-rays to look better. But none have shown to clearly improve motion in patients with multiple hereditary exostosis.

And, to make things more confusing- even patients with dramatic findings on x-ray can do very well functionally. The case below in a 12 year old with multiple hereditary exostosis proves this point. She has no pain, great motion, and no interest in surgery. Time will determine if her outstanding function continues.

Multiple hereditary exostosis. Note the radial head dislocation on the left.

Multiple hereditary exostosis. Great forearm supination.

Multiple hereditary exostosis. Very good but not perfect forearm rotation on both sides.

Multiple hereditary exostosis. Right radial head is out of position.

Multiple hereditary exostosis. Right radial head is dislocated.

Left elbow with radial head dislocation (with great motion and function). In multiple hereditary exostosis.

Right elbow with radial head dislocation although not as notable as the left (with great motion and function). In multiple hereditary exostosis.

Charles A. Goldfarb, MD
My Bio at Washington University
congenitalhand@wudosis.wustl.edu

The condition of a child born with two thumbs has many, many names but most commonly, we call it radial polydactyly, thumb duplication, or split thumb. While all are utilized, radial polydactyly is the medical term and split thumb is appropriate as both thumbs are smaller than the other thumb. I have posted about radial polydactyly previously as can be seen HERE.

We have learned over the years that surgical reconstruction of the extra thumb is much more than removing one of the thumbs. The remaining thumb requires stabilization and often straightening. This can be tricky and, I believe, is best accomplished by a surgeon with experience in treating these problems- really the more experience, the better. Even then, sometimes a second surgery may be required as the child ages. This has been discussed over the years but a nice long term follow- up study from Dallas, as detailed HERE, reports on 43 kids at an average follow- up of 17 years. These late surgeries were for different reasons but a crooked thumb was often the issue.

The surgical goals for radial polydactyly are to

1) Remove the extra thumb

2) Maintain the 'better' thumb. Typically that is the one closer to the hand but not always

3) Stabilize the thumb (i.e., make sure the ligaments are good)

4) Align the thumb (i.e., make sure the bones are straight)

We typically add a temporary metal pin to protect the surgery during the first 5 weeks when the child is casted. Cast and pin are removed at the first visit after surgery.

Here is an example of the early outcome after reconstructive surgery for radial polydactyly. This child was not as complex as some but still a challenge. One thumb was clearly larger and it was also crooked, requiring straightening of the bone at the time of surgery. Both the family and I are pleased at this point but we will follow the child over time to assure that the thumb stays straight and functional.

Radial polydactyly before surgery. Note that the large thumb is somewhat crooked.

Here is the side view of the thumb after surgery for radial polydactyly. Not the subtle scar.

Top view of the thumb after radial polydactyly reconstruction. The thumb is straight.

Charles A. Goldfarb, MD
My Bio at Washington University
congenitalhand@wudosis.wustl.edu

I have posted on thumb rotation and if you search the blog, you will find a number of posts on ulnar longitudinal deficiency. Scrolling through the pictures, a pattern begins to develop in these kids with ulnar longitudinal deficiency- that is, many of the kids have a well developed thumb and 2 very good fingers.

When we think about ulnar longitudinal deficiency, we think mainly about the forearm. And we should as deficiency of the ulna with its associated tendon and muscle limitations are important. But from a functional standpoint, as Dr Manske taught us so many years ago with this classic article, the hand and thumb specifically are very important. Dr Manske focused on the thumb web but, as we later demonstrated in this article, the rotation of the thumb is important also. Because if the thumb is in the plane of the fingers, some function of the thumb is lost and pinch is neither strong nor precise.

This child with ulnar longitudinal deficiency has a thumb and 2 fingers. All are well developed. But the position of the thumb is not great for function. The family is considering a rotation of the thumb to allow improved function.

Ulnar longitudinal deficiency with a thumb and 2 fingers. Note the position of the thumb.

Ulnar longitudinal deficiency with limited pinch. No that the child is pinching with the side of the the thumb, not the 'meaty' pulp which gives the best strength and function

I posted these pictures and this brief discussion simply because I though the pictures were so powerful. This is a challenging situation because the child functions well. However, I believe that he can function better with more precise thumb function with surgery.

Charles A. Goldfarb, MD
My Bio at Washington University
congenitalhand@wudosis.wustl.edu

The timing and appropriateness of surgery of the hand and arm in children with birth anomalies are difficult topics. The problem for parents and doctors is that we don't truly know how well any particular child will adopt to his limitations and how much those limitations will affect his/ her life. We all hope for kids with excellent function and 'normal' appearance and, therefore, families seek doctors and surgery to make their kid's hands 'normal'. As a surgeon with experience, I see it as my job to share reasonable expectations about surgery (as well as risks and recovery).

As kids get older, they can participate in decision- making. But the reality is that families often want 7 year old or 10 year old kids to really make the touch decisions about whether to have surgery and that is not likely to be helpful. We want such kids to have a stake in the decision but they are not usually able to truly really make such difficult decisions. Understanding the future is tough and having reasonable expectations about surgery (pain, recovery, etc) is really challenging. In the case below of a 17 year old, his feelings and his life experience with his condition are vital to an appropriate decision for surgery (in this case family was interested and he was absolutely not).

These are issues that we face every day in clinic and every family approaches such decisions differently. It is my job to help each family, in its different way, make the best decision. Not easy (and sometimes talking through this is more challenging than the surgery itself).

Distal arthrogryposis is, in my practice, less common that amyoplasia or the more extensive disease. Because the disease is focused on the hands alone, patients tend to function at a higher level and have an easier time with activities in general. I have posted twice on this topic, here and here. Surgery is often considered as it can improve hand position and sometimes finger and thumb motion. But such decisions are not easy for most families.

I recently met a 17 year old male who reminded me that function can be very good even with some deformity and some limitations in motion. He was absolutely not interested in surgery as he felt he could perform all activities without too much difficulty. He did admit to using two hands for activities that others would accomplish with only one hand. He also stated that some tasks might take him a bit longer to complete compared to other kids. But he was not interested in surgery.

Here are some pictures of his hand (both sides looked the same) to frame the discussion. The fingers do not straighten fully, especially the ring and small fingers with camptodactyly. The fingers do however make a great fist (which is not always the case in other types of arthrogryposis) and with some strength. Finally, the thumb web space is only marginal, not great, which limits his ability to grab larger things.

Distal arthrogryposis with attempted finger straightening

Distal arthrogryposis with attempted finger straightening from palm view

Distal arthrogryposis with a full fist demonstrated

Obviously, we did not perform surgery on this happy 17 year old with imperfect hands. His parents were somewhat interested in learning more about the options which included therapy to help straighten the fingers (vs surgery to release the tightness on the palm side) and possibly surgery to help the thumb web space. But could do everything he wanted to do and was okay with accomplishing certain goals differently than his peers.

Charles A. Goldfarb, MD
My Bio at Washington University
congenitalhand@wudosis.wustl.edu

Amniotic Constriction Band is a common problem in our clinics. Kids can have a diagnosis of amniotic constriction band and yet their hands can all look very different from one another as there are simply so many different presentations. I have previously written about this topic here but I wanted to share a few more thoughts.

We typically think of 3 things when we make a diagnosis of amniotic constriction band. Kids may have 1, 2, or 3 of these issues- that is what makes the diagnosis so different from one child to the next. First, they can have constriction rings or indentations in the skin. These can be mild or can go really deep. If deep enough, the blood supply to the finger (or for that matter the whole arm if the ring is higher up in the arm) can be affected and can theoretically not survive. These rings can be in the arms, hands, or legs.

The next issue is amputation, or loss of an arm or more commonly a finger or part of a finger. We think this is related to a deep, tight ring while the baby is still in the womb. Rarely, a newborn can have a tight ring and we worry that the finger might not live unless we do surgery to save it (and that is what happened in this child's thumb- early surgery may have saved the thumb).

The final issue is amniotic constriction band is joining of the fingers together- the so- called syndactyly. This is different from other types of syndactyly as we believe it is related to scarring after an amputation of a finger. It can be two fingers or the whole hand. This can be difficult to treat but early treatment can lead to really satisfying results and a great hand.

Here is a case for consideration showing all 3 types of problems in amniotic constriction band.

First is the left hand. Note the constriction in the index finger. This can be addressed with surgery which will decrease the band and allow more normal growth. The second picture has a side view showing another view of the band. The rest of this hand looks pretty good. The middle finger (or long finger) has been amputated and is about the length of the index finger. Amputation of the long finger is most common.

Amniotic constriction band with a tight band of the index finger.

Amniotic constriction band with a tight band of the index finger, a side view.

The right hand is more complicated in this case of amniotic constriction band. The thumb had urgent surgery after birth for a tight band and looks very good now. There is also a reasonably well formed pinky. The ring finger has a tight band that will be released. But the other digits are joined together from scarring and are short due to amputations. Early surgery may help create better, more functional fingers and hand.

Amniotic constriction band with a thumb band previously released.

Amniotic constriction band with a tight ring finger band, amputations of other digits.

Amniotic constriction band with several amputations.

Amniotic constriction band with a tight band of the ring finger.

Charles A. Goldfarb, MD
My Bio at Washington University
congenitalhand@wudosis.wustl.edu

I recently posted on a young child with Amniotic Constriction Band Here. I wanted to update that post with additional information. Prior to coming to me, the patient had been treated in an urgent way by Dr Erin Greer who performed a z- plasty and release of the tight band. This surgery was done to help the thumb survive as it looked concerning due to the tight band. Needless to say, this surgery was successful and the thumb looks really good and clearly will survive.

Here are new pictures (not previously posted) just after birth with a thumb with Amniotic Constriction Band that is at risk. See the tight band and the swollen thumb past the band.

Amniotic Constriction Band with tight band.

Here are some pictures soon after the procedure- notice how improved the thumb looks already.

Amniotic Constriction Band after band release

Finally, here is one picture when the patient came to see me. Look how much improved the thumb is with the additional time. There is still evidence of the band but this is a thumb that will do well long term and really help with function!

Amniotic Constriction Band with tight band after release.

Charles A. Goldfarb, MD
My Bio at Washington University
congenitalhand@wudosis.wustl.edu

I have posted several times previously on our work with 3D Printed Prosthetics, the posts are compiled here. Sydney is one of our patients who has been a big part of this process. She recently received the latest prosthetic version, a 3D Printed, Myoelectric device and fabricated for about $110. Today, there was a great deal of press on Sydney and her new 'arm'. Here are a few of the links:

KSDK link

CBS KMOV link

Fox2 Link

In addition, Sydney and I talked just after she got the new prosthetic. She wasn't yet a pro at using the hand but still lots of interesting things to say. Check it out

Charles A. Goldfarb, MD
My Bio at Washington University
congenitalhand@wudosis.wustl.edu

Amniotic Constriction Band commonly affects the hand and feet. I have previously posted on the topic on several occasions as can be viewed HERE. I wanted to share a few recent cases to demonstrate the different types of Amniotic Constriction Band.

This young child has Amniotic Constriction Band affecting one foot and one hand as depicted below. The toes are characteristically short and there is a syndactyly (joining of the digits) as well. As classically noted, the syndactyly is fenestrated such that the tip of the digits are joined but there is an opening closer to the foot. The hand has a great thumb and a reasonable index finger but the finger is tethered to the remnants of the other digits.

Amniotic Constriction Band of the foot

Amniotic Constriction Band of the hand

Amniotic Constriction Band of the hand, view of the palm

Here is another case of Amniotic Constriction Band demonstrating a slightly different appearance. First, here is the hand prior to surgery. The thumb is somewhat short, the index finger short and the first webspace (between the thumb and index finger) is tight. The index finger is bulbous as may be seen in this condition.

Amniotic Constriction Band of the hand, view of the palm. The pinky is normal but the other digits are short.

Amniotic Constriction Band of the hand. Note the abnormal index finger with bulbous index finger.

Amniotic Constriction Band of the hand, view of abnormal index finger

Tight first web space with 2 bands of contracture. Amniotic Constriction Band.

The decision for surgery is based primarily on function but also should consider appearance. Mom and family were concerned about the length of the thumb and the appearance of the hand. Certainly, I agreed with the concerns about the thumb because the short thumb and tight webspace limit large object grasp. And, the bulbous nature of the index finger also limits both function and appearance. We therefore offered reconstructive surgery. The webspace was limited in two planes and therefore we used a more complex flap than typical.

Flap raised to reconstruct the first webspace in Amniotic Constriction Band

Flap raised to reconstruct the first webspace in Amniotic Constriction Band. The flap has been laid across the tight web.

Reconstructed hand with deeper webspace and contoured index finger Amniotic Constriction Band

Reconstructed hand with deeper webspace and contoured index finger Amniotic Constriction Band. The pinky finger is held by the instrument.

Reconstructed hand in Amniotic Constriction Band

Charles A. Goldfarb, MD
My Bio at Washington University
congenitalhand@wudosis.wustl.edu

The basic treatment of syndactyly has not changed in many years. The essential surgical care includes the creation of a web space (the 'commissure') with a flap and zig- zag incisions to the tips of the fingers to allow separation without straight- line scars (which can contract). There is no doubt that our understanding of syndactyly has improved over the years and there have been many technical advances including variations on the commissural flap and modifications based on the exact type of syndactyly. Reports on reconstructing syndactyly without skin grafts have offered exciting new potential although many congenital hand surgeons continue to use grafts suggesting that results are not universally ideal. I have written many times on syndactyly- check for those posts HERE.

Recently, Dr Landi reported outcomes using a new concept in the treatment of syndactyly.

This article describes the use of a hyalruonic acid scaffold to fill in the defects instead of skin grafting for syndactyly reconstruction. The results are very good. Article link This material has become available in the United States and I wanted to share a recent case of ours.

This one year old child has bilateral cleft hands and cleft feet. He has a complete, cutaneous (skin only) syndactyly of the ring and small fingers bilaterally.

Cleft hand with ring/ small finger syndactyly

Cleft hand with ring/ small finger syndactyly, palm view

In an effort to improve function and independence of the two fingers, he was brought to the operating room for bilateral syndactyly reconstruction. We discussed using skin grafts but elected to proceed with the hyaluronic acid scaffold. The 'hyalomatrix' works as a hydrophilic gel which allows cellular migration onto its 3D scaffold. Skin cells can then migrate to allow healing.

Hyaluronic acid scaffold

Hyaluronic acid scaffold- shiny side later peels off.

Here are a few pictures after the surgery.

Syndactyly reconstruction with hyaluronic acid scaffold, palm view

Syndactyly reconstruction with hyaluronic acid scaffold, dorsal view

It is too soon to know if this material will dramatically change the treatment of syndactyly. But it does seem to be an important step forward to minimize or eliminate the need for skin grafts (with the accompanying scar). More to come on this treatment.

Charles A. Goldfarb, MD

My Bio at Washington University
congenitalhand@wudosis.wustl.edu

There are many reasons for bumps, cysts and masses in the fingers. I have previous blogged HERE on some of these growths. There is another common finger bump that should be discussed, the retinacular cyst. The retinacular cyst is a type of cyst- a fluid filled sac- that grows from the flexor tendon sheath.

Here are a link that explain the general concepts of a ganglion cyst
Hand Society Explanation of Ganglion Cyst

Retinacular cysts can affect patients of any age. These cysts appear as a pea- sized bump, where the finger meets the hand. The are really a nuisance and usually cause pain with grasping (such as the steering wheel or a hammer). Pressure causes discomfort as well. As noted in the article by Hutchinson and Wang, these can disappear or resolve with time. But in some patients, the cysts don't go away and do cause pain. In those patients (a minority), treatment is a reasonable option. This can include aspiration (sucking fluid out of cyst) or surgical excision. Aspiration has been proven cost effective but is a challenge in kids.

Article by Wang and Hutchinson. This article reviews ganglion cysts in the hand in children (7 were retinacular cysts). Most resolved and typically within a year.

Surgery is simple and safe with a removal of the cyst off of the flexor tendon sheath. The nerves and arteries are typically safe as the cyst is usually fairly central (in the middle of the finger). When required, this is a satisfying surgery.

Article by Jebsen and Spencer. This article reviews the outcomes after surgery for the retinacular cyst and reports very good results.

Retinacular cyst in the typical location at the base of the finger. See the small cyst deep in the incision.

Charles A. Goldfarb, MD

My Bio at Washington University
congenitalhand@wudosis.wustl.edu

Multiple Hereditary Exostosis is an uncommon condition with the growth of multiple benign tumors or bone/cartilage growths. These can be called osteochondromas or exostoses. It has been estimated to be present in 1 in 50,000 children. Here is a great reference- NLM site. The growths can present in several different ways.
1. Bumps which are not painful
2. Bumps which are painful, often related to pressure on cutaneous nerves or other structures
3. Bumps which cause problems with bone growth. These are usually in the forearm or lower leg- segments with 2 bones. Altered growth of one of these bones affects the other bone.

There is a strong hereditary component to Multiple Hereditary Exostoses. It can be inherited in an autosomal dominant fashion, related to the EXT1 and 2 genes. Typically, we, in the United States, see these children at a relatively young age and certainly by the beginning of puberty. The osteochondromas grow rapidly at the time of rapid bone growth.

We often have the chance to care for children from other countries, sometimes thanks to the generosity and coordination of the World Pediatric Project. This amazing organization helps many children with orthopedic and non orthopedic conditions. Check out there website HERE. We recently took care of a patient from Central America with Multiple Hereditary Exostoses. He had not undergone any previous treatment. Here are some pictures:

Multiple Hereditary Exostoses. Note the lesions on the right wrist and both legs.

Multiple Hereditary Exostoses

Here are some x-rays showing the bumps.

Multiple Hereditary Exostoses. Note the bumps on the bone.

Multiple Hereditary Exostoses. Note the big bump on the outside of the humerus.

This patient was taken to the operating room for removal of the painful bumps.

Multiple Hereditary Exostoses, the excision of 3 lesions.

Multiple Hereditary Exostoses. One large osteochondroma prior to removal.

Charles A. Goldfarb, MD

My Bio at Washington University
congenitalhand@wudosis.wustl.edu

Fibrous dysplasia is a bone tumor which is related to a genetic abnormality leading to abnormal bone formation. Normal bone is replaced by a fibrous tissue. It can present at any age- young kids, adolescence, or even adulthood. It is a bone tumor but it is benign growth. Rarely, the tumors can become malignant, but this only happens in about 1 in 20 of kids with fibrous dysplasia. McCune Albright Syndrome includes kids with fibrous dysplasia, endocrine disorders (such as early puberty), and skin lesions (cafe au lait spots).

Fibrous Dysplasia typically presents in the legs but can occasionally present in the upper extremity, typically the humerus bone. It may involve only one bone or can involve many bones. The bone develops abnormally, expands, and can break due to the weakened nature of the bone. The bone can be painful or the pain can develop from a fracture of the weakened bone Bones can bow due to the weakening caused by the fibrous tissue of fibrous dysplasia. X-rays have the classic appearance of ground glass and bone specimens examined under a microscope show a 'chinese letter' pattern.

Treatment for fibrous dysplasia depends on many different factors. Fractures may require surgical treatment although they can heal without surgery. Bowing of the long bones can cause problems and sometimes has to be addressed with bone realignment (or osteotomy).

Medications called bisphosphonates which may have a role in treatment of fibrous dysplasia. These come in different forms including pills. These have been reported to help pain and limit deformity but the true expectations continue to be clarified.

Here is one of our patients followed over time with fibrous dysplasia of the humerus. The early xrays from 2010 of the left humerus show a fracture, which healed without surgery. Recent xrays from October 2016 show some progression of the fibrous dysplasia over time.

Early xray from 2010 of patient with fibrous dysplasia

Later in 2010, the humerus fractures due to weakness of bone in fibrous dysplasia. The bone broke after a fall.

Healing humerus after fracture in fibrous dysplasia

The most recent xray of humerus with fibrous dysplasia.

Charles A. Goldfarb, MD

My Bio at Washington University
congenitalhand@wudosis.wustl.edu

As a surgeon, I have a bias that surgery can help most of the time. And I feel this one because I have seen it help in so many children. Surgery can help function and it can help appearance- both are important. And as a surgeon, I feel fortunate to be able to offer surgery to kids and families.

However, surgery is not the answer for every child and sometimes the best path is different. Sometimes it is therapy, sometimes watchful waiting, and sometimes support in other ways. Kids with birth differences of the upper extremity almost universally adapt well, learn to function in their own way, and generally can accomplish the tasks that are necessary to go about their day. It is my job to know when I can help but also know when to avoid the recommendation for surgery.

And this can be really, really difficult. Because I want to do something to help each child. And families come to me (and surgeons like me everywhere) because, if something can be done, they want to do it for their child. Some families push harder than others, but most want something done if it at all can help. But we, as surgeons, need to be realistic and honest in our approach.

Below is a great kid with a great family who came to me for the first time at age 12. He had been observed elsewhere and moved to St Louis and asked for our opinion and, if appropriate, surgery. Radial longitudinal deficiency comes in many different varieties with differing severity. This is a relatively severe presentation. The family of this child was hopeful that surgery could be done to help him function better and easier. His arms are short and his elbow don't bend. His fingers work reasonably well, especially the small finger and ring fingers. But the stiff elbows make many tasks tough including eating without aids. But, he does reasonably well and HE is not interested in surgery.

Severe radial longitudinal deficiency. Note the bent wrist position and lack of elbow motion. But the shoulder work well. The patient's face is blinded for privacy.

Severe radial longitudinal deficiency. Note the bent wrist position and lack of elbow motion.

Severe radial longitudinal deficiency. Note the lack of elbow joint formation.

Severe radial longitudinal deficiency. Note the lack of normal elbow joint formation.

The temptation for the surgeon is to straighten the wrists. However, when the elbows don't bend, the angled position of the wrists actually can help. Straightening the wrists would only take the hands further from the midline and further from the body. And, unfortunately, restoring elbow motion is not really possible at this age and with his elbow development. Therefore, we agreed with the patient and did not recommend surgery. Not easy for me to say and not easy for the family to hear. We will, of course, follow him regularly and if certain issues arise, we may have therapy or adaptive recommendations. But, at least for now, no surgery.

Charles A. Goldfarb, MD

My Bio at Washington University
congenitalhand@wudosis.wustl.edu

My mentor, Paul Manske, clarified years ago that the hand is often the greatest limitation for children with ulnar longitudinal deficiency in this classic ARTICLE. And, as I have previous blogged HERE, the hand limitations can manifest in many different ways. There are many different ways this presents in ulnar longitudinal deficiency including: thumb and index finger webspace tightness, syndactyly, absent digits, as well as other findings. And as noted in previous posts, there may be surgeries which can help the function of the hand affected by ulnar longitudinal deficiency by addressing these limitations. If surgery is considered in ulnar longitudinal deficiency, the goals of this surgery must be clear and obtainable.

But, many times, function is just fine in ulnar longitudinal deficiency without thinking about a surgery. Kids with one normal hand can do almost all of life's activities and if the other hand has at least one digit, function is certainly improved. Here is one child with ulnar longitudinal deficiency and really, really good overall function. Like many parents, early in the patient's life, surgery was of interest. But, as the patient has grown and her excellent abilities have become clear, surgery is becoming of less interest. She has great elbow, forearm, and wrist motion. The index finger is a bit stiff but functional. The thumb does not really help functionally. If surgery were to ever be considered, making the thumb a bit stiff might provide a functional improvement.

A patient with ulnar longitudinal deficiency and one good finger.

X-ray of a patient with ulnar longitudinal deficiency and one good finger.

Charles A. Goldfarb, MD
My Bio at Washington University
congenitalhand@wudosis.wustl.edu

Happy New Year!

My hope for 2016 is much progress towards our understanding of birth differences of the upper extremity.

My primary resolution is to continue our research in St Louis at Washington University, St. Louis Childrens Hospital, and the Shriners Hospital for Children. We have a number of exciting projects underway including:

The CoULD (Congenital Upper Limb Difference) Database. This is a partnership with Boston Childrens Hospital (and in 2017, at least 2 additional institutions) to identify and tracking children with birth differences over time.
Projects examining treatment outcomes for

Hypoplastic thumb
Arthrogryposis
Other congenital differences

Several projects examining outcome instruments for kids (PROMIS, PODCI, etc)

My other resolution is to post to this blog more regularly. My goal is once a week and I hope to better keep to this pace in 2016.

Finally, I am intrigued by the potential of 3D printing as it can benefit kids with upper extremity differences. We have one publication in print on this topic which is described HERE. We have another manuscript which has been submitted for publication describing some notable advances. While there is a great deal in the popular press on the topic, there is very little in the literature. One additional manuscript can be found HERE.

I have become somewhat more knowledgable on the Magic Arms effort. This is a 3D printed device (called Magic Arms or the WREX) which can help kids overcome gravity for functional improvement.

The organization attempting to increase our understanding and the availability of these devices is MAGIC ARMS- their website is worth a look and is also a new Link for my blog.

Happy New Year.

Charles A. Goldfarb, MD

My Bio at Washington University
congenitalhand@wudosis.wustl.edu

I have posted a number of times on cleft hand, or central deficiency as can be found HERE. To me, cleft hand is one of the most interesting diagnoses as kids with it may look and function very differently from each other despite have the same diagnosis. Some of my other posts highlight these differences between kids with cleft hand. This highlights the importance in understanding both the functional and the appearance differences for each child.

This case is that of a child who is a bit older- at 12 years- with less dramatic complaints compared to some kids but with clear functional difficulties. There is a syndactyly involving the ring and small finger which limits his ability to wear gloves and maximally spread the fingers and the ring finger has limited flexion (bending) and some angulation.

Cleft hand with limited ring finger motion and syndactyly

Cleft hand palm view with limited ring finger motion and syndactyly

x-ray of cleft hand

This cleft hand is very interesting to me. The pictures of the hand and the x-ray are informative.

The cleft itself (ie, the gap between the index finger and the ring finger) is not a problem for this child. Sometimes this gap is much larger and, therefore, more of an issue whether for appearance or function.
The thumb- index webspace is not an issue in the patient. It is often the single biggest problem in cleft hand as it limits function if it is narrow.
The xray clearly shows the extra bone from the missing long finger is joined to the ring finger. This is the proximal phalanx of the long finger (middle finger). In this child, that bone is causing some difficulties with ring finger motion and also deviation.
Finally, it is not uncommon to find syndactyly between the ring and small finger. However, patients and families do not always find this to be a problem (in this case, it was).

As mentioned above, the primary issue for this child was the ring finger, tethered on the thumb side by the extra bone and on the pinky side by the syndactyly. The family requested reconstruction.

We removed a portion of the extra bone and deepened the web space between the ring and small finger. Certainly, we could have done a more extensive surgery but, as for most cases, we focus on accomplishing our surgical goals in an appropriately limited way. Early results are promising.

Cleft hand after reconstruction.

Charles A. Goldfarb, MD

My Bio at Washington University
congenitalhand@wudosis.wustl.edu

Stiff Fingers

Exciting Times!!

Finger Masses

Pollicization- concerns immediately after surgery

Multiple Hereditary Exostosis- Its Not Always about the X-rays

Outcome after Surgery for an Extra Thumb

Thumb position and the 3 digit hand

Hand Surgery in Children

Amniotic Constriction Band and the Hand

More on Amniotic Constriction Band

3D Progress

Amniotic Constriction Band

Syndactyly Treatment: What's Next?

Finger Bump

Young Adult with Multiple Hereditary Exostoses

Rare Bone Tumor- Fibrous Dysplasia

Radial Deficiency, Doing Fine

Hand Limitations in Ulnar Longitudinal Deficiency

A New Year filled with Hope

Cleft Hand Reconstruction