Wednesday, April 9, 2014

Symphalangism (stiff fingers)

Symphalangism is a rare birth anomaly of the fingers which literally means: joined bones.  Most commonly, it refers to an ankylosis (bony union) or fibrous tissue union of the finger bones preventing finger motion.  It can be nonhereditary or it can be hereditary.   Nonhereditary symphalangism occurs without known family history.  It can be associated with other nonhereditary conditions such as Aperts or Polands syndrome.  Sometimes the fingers can be short as well as stiff.

There are two main types of hereditary symphalangism: SYM1 (Cushing Symphalangism; OMIM #185800) which is stiffness of the PIP joints, the wrist and ankles and deafness.  It is passed in an autosomal dominant fashion (50% chance of passing it on) and has been localized on the genome at 17q22.  SYM1  There is also a SYM1b (OMIM #615298) has been localized to chromosomal 20q11 and relates to a defect in the GDF5 gene.  SYM1b

The other inherited type of symphalangism is SYM2 (Distal Symphalangism, OMIM %185700).  This includes stiffness of the DIP joints of the hands and feet.  Less is known about this condition but it is also autosomal dominant.  SYM2

Traditionally, attempts to surgically improve finger motion in symphalangism have had limited results.  However, recently, Baek, et al reported reliably improved motion with surgical release.  They also felt surgery in younger children may be more successful.  Baek paper

Patients with symphalangism present with a stiff finger (or more than one, finger or toe).  On examination, the stiff joint will not have the normal skin creases on the top or bottom.  X-rays may appear similar to the normal fingers but often the two bones are fused on x-ray so that there is no joint.

Here is one example of a child with symphalangism and a single, stiff joint.

Middle finger (long finger) symphalangism.  Note the lack of skin creases over the PIP joint.

Symphalangism.  Note the lack of finger flexion of the middle finger at the PIP joint.

The x- rays in symbrachydactyly look normal without clear evidence of the abnormality.

Thursday, April 3, 2014

Severe Madelungs Deformity

I have posted several times on Madelungs Deformity but a recent follow- up visit with a happy patient led me to post again.  One previous post was on More typical Madelungs and one on Madelungs after trauma.

Patients with an inherited Madelungs are much more common in my practice (compared to Madelungs following trauma) even though both are quite uncommon in general.  It can affect one wrist or both.  It can affect just the wrist or the whole forearm can be affected.  Madelungs may be painful but usually the pain is mild when present.  It typically affects motion of the wrist or forearm but not usually terribly. There is often visible deformity especially when looking at the wrist from the side view (see below)- it looks like the wrist "sags."  Patients typically see me as teenagers but I also see patients in their 20s and 30s- these patients are more likely to come in because of pain on the ulnar (pinky) side of the wrist.

I have am a fan of the dome osteotomy for Madelungs which was first described in Dallas.  The first description Original article described the procedure and early outcome and the Second Article described longer term outcome.  This paper reported very good outcomes in general but slightly less ideal outcomes in those with whole bone disease and more severe original deformity.  In older patients addressing the radius bone (where the problem originates) may not be enough.  In those patients, shortening the ulna bone can be an effective option as well.

Below is an 18 year old patient about 4 years after treatment for bilateral Madelungs deformity.  She presented with pain, deformity, and limited range of motion.  She chose to undergo surgery for her severe Madelungs.  She did quite well and now has no pain, has resumed all activities, has less (but still some) deformity, and great motion.  She is happy.  Her x- rays are improved but still have deformity and do not look "normal."

Madelungs deformity with classic x- ray appearance.  There is a widening between the forearm bones and "v-shaped" appearance of wrist bones.  
Side view of Madelungs.  Not the fact that the forearm bones, the radius and ulna, do not overlap.  The ulna is dorsal.

Madelungs after osteotomy (cutting) of the radius.  Metal pins in place.
Madelungs after osteotomy, side view.

Clinical photographs demonstrating an excellent range of motion after surgery on both wrists.  No pain.

Madelungs deformity after surgery.  A small amount of wrist "sag" is noted.

Madelungs final x-rays.    Note appearance and shape of the bones and relationship between bones (compare to preoperative xrays above).  This is not "normal" but is more anatomically correct.
Madelungs side view with improved alignment of the bones.   

Sunday, March 30, 2014

Bony Outgrowth, osteochondroma

Bone growths in children come in many different forms.  In the upper extremity, there are relatively few growths on the surface of the bones; one of these is the solitary osteochondroma.  The solitary osteochondroma is, as its name implies, a single bony and cartilage growth.  It differs from multiple hereditary exostoses, or osteochondromatosis, which is an inherited condition in which the child has many of these tumors.  Multiple hereditary osteochondromatosis (or multiple hereditary exostoses- MHE) is a topic for a later post (hopefully not too much later).  These are almost always benign growths.

The solitary osteochondroma may appear anywhere but, to focus on the upper extremity, grows from the shoulder blade (scapula), humerus, radius/ ulna, or fingers (phalanges) most commonly.  These osteochondromas typically arise from the growth plate but can also arise from cartilage of the joint.  The osteochondroma is most often painless but may also be painful, especially when pressure is applied to the lump.  There is more likely to be associated pain if it is applying pressure near a nerve or if the bump is particularly close to the skin.  One of the biggest issues is bone deformity related to the growth of the osteochondroma.  This is especially problematic in the forearm (or lower leg) as irregular growth of one bone will affect the growth of the other in the same segment.  The most common situation is when an osteochondroma of the ulna limits the growth of the ulna due to its relationship to the growth plate near the end of the ulna.  If the ulna growth does not keep up with the radius growth, the radius may deform and the radial head will, in certain situations, dislocate at the elbow joint. 

Patients with an isolated osteochondroma present to the orthopaedic surgeon for one of a couple of reasons. First, there may be a painless bump and the patient and family may be curious about it.  If so, it may be observed for growth and possible deformity- xrays are typically taken on an every 6 month or yearly basis depending on the age of the child and the period of growth.  We have to be especially careful to watch for developing deformity during periods of rapid bone growth. 

Second, painful or otherwise worrisome osteochondromas are typically removed but those decisions are to be made after discussion of the pros and cons of such surgeries.  Rarely, a previously painless osteochondroma may become painful; this is a reason to be wary as it could indicate a change in the nature of the benign growth and often warrants an MRI or surgical excision.  

Finally, the bumps may cause the above- mentioned deformity.  The most difficult part of our task is to identify those growths and deformities which are concerning and which may worsen and limit motion or cause increasing functional issues.  If so identified, surgery to excise the osteochondroma and possible cut and realign the bone is considered.

The following images are from an adolescent with a painful (with pressure) and enlarging solitary osteochondroma of the radius.  The size and discomfort led to a decision for surgical removal.  There was no bony deformity aside from the bump.  There were no other osteochondromas and no family history. 

Osteochondroma on ulna.  It is easiest to see on the right picture.

Osteochondroma on the ulna from the side view (lateral).  Not the prominence on the bone.

Osteochondroma at the time of surgery.  This bump was removed.

Charles A. Goldfarb
My Bio at Washington University

Sunday, March 16, 2014

Popular Press on Prosthetics

Prosthetics have been in the press lately.  I have found two issues particularly interesting; one is a note a caution and the other an important step forward.

The first article nicely presents a reality check towards much of the excitement regarding myoelectric prostheses.  While there is good reason to be excited about technology and prosthetics, there are still many challenges to the widespread adoption of myoelectric prosthetics and these devices are not appropriate for all patients.  PBS link

The other issue regarding prosthetics is that, up until now, prosthetics have remain limited by the simple fact that no matter how well they work, the patient cannot use the device to sense their environment. Because the limb cannot feel, the patient must see for use.  There is no sensibility.  That is why, for many kids born with limb deficiencies, prosthetics don't make sense.  Kids born with a limb deficiency learn to function from day of life 1 and many will function better without a prosthetic.  This important ARTICLE in the medical literature summarizes this issue.

A recent study from 2014 from Italy challenges this long held problem.  Raspopovic, et al  wrote about “restoring natural sensory feedback in real- time bidirectional hand prostheses,” in the journal "Science Translational Medicine".

This ARTICLE showed that stimulating the median and ulnar nerve fascicles using electrodes with artificial sensors from prosthesis allows appropriate sensory information to amputee to help control grasp.  That sensory feedback allows the patient to modulate the grasping force of the prosthesis (i.e., how hard to grab) without visual or auditory feedback.  This PIECE  further explains this important step forward.

Wrist Deviation

Radial deficiency and ulnar deficiency are, for most children, easily distinguished.  Radial deficiency, a condition about which I have blogged about on numerous occasions- see here - presents with a problem on the radial (thumb) side of the forearm and hand (mainly the thumb).  The radius bone can be absent or limited and the extensor muscles are affected also.

Ulnar deficiencycheck posts here - can be a bit more challenging as there is more variability in presentation.  In other words, it can be harder to group kids with ulnar deficiency.  The forearm is often affected and the ulna can be absent or deficient.  Sometimes, the radius will be joined, or fused, to the humerus in these kids.  The hand is also more variable as there can be absent fingers on the ulnar side (i.e., ring and small finger) or absent thumb.  

Below is a case which presents like an ulnar deficiency but this child is different than most.  The child is "typical" in the following ways.  First, there is a clear ulnar deviation posture of the wrist.  Second, the thumb is deficient and of limited function as can be seen with ulnar deficiency.  However, neither the forearm nor the thumb are typical for ulnar deficiency.  The forearm has a fusion of the radius and ulna.  The thumb is marked limited, narrow, and of limited function.  Certainly, we do think of other, really rare conditions with forearm synostosis (like Holt- Oram Syndrome or Nievergelt- Pearlman Syndrome)- but this child does exactly fit into any category.

Before presenting the case, I should clarify why it matters- that is, why it matters to make the best diagnosis.  Making the right diagnosis provides a great deal of information to the family about what to expect now and in the future. It lets us know about associated problems or conditions that might not be obvious- these conditions can involve important organ systems like the heart or kidney.  The right diagnosis can let us know about future siblings if the family is considering more kids and also the risks or expectations when the child is considering having his/ her own kids in the future.  Genetic information is becoming more and more available and the cost of obtaining genetic information is decreasing- this will help so much in our understanding of these conditions.  This particular child is also consulting a genetics team for additional thoughts.  For now, I would classify this as an ulnar deficiency but we will continue to work with the genetics team moving forward.

Ulnar deviated wrist.  Note the small thumb which is similar to a finger. The thumb is also not particularly functional and may benefit from intervention in the future.
Another view of ulnar deficiency wrist.

Ulnar deficiency before surgery.  Unusual with radioulnar synostosis.

Ulnar deficiency after surgery.
Ulnar deficiency after surgery.

Ulnar deficiency after surgery.  Pins still in place. 

Sunday, March 9, 2014

Hemangiomas and vascular malformations a brief overview

When we consider congenital abnormalities of the upper extremity, most commonly, we think of extra bones or missing digits.  However, there are many other conditions which fall under this umbrella and, therefore, the care of the congenital hand surgeon.  The OMT classification (Oberg, Manske, Tonkin) has recently replaced the Swanson classification as the official classification scheme for birth anomalies of the upper extremity by the IFSSH.  Section III is for Dysplasias or disordered growth and includes hypertrophy, see previous post on macrodactyly and tumorous conditions.  Vascular conditions including hemangiomas and malformations are thus classified.

Vascular lesions are either tumors or malformations.  Hemangiomas are the most common blood vessel tumor and they are benign (i.e, not bad).  Some consider these lesions a type of birthmark.  Hemangiomas are one of the most common tumors of early life.  These tumors are either visible at birth (congenital) or present in the first weeks or months of life (infantile).  The infantile hemangiomas grow rapidly in the first 6 months to a year of life and then involute slowly (i.e., resolve).  50% have involuted by age 5, 70% by age 7 and most of the rest by age 13.  There can be some hemangiomas that are visible thereafter.   The congenital hemangiomas behave a bit differently as they are fully developed at birth and either disappear in the first year of life or persist.

There are different types of hemangiomas including capillary, the most common in the upper extremity in my experience.  These capillary hemangiomas vary in appearance but one common type is the port- wine stain.  The appearance is affected by the depth of the lesion.  Superficial lesions look red and slightly deeper lesions maybe bluish.  Wikipedia has a good summary.  Here is one capillary hemangioma from Wikipedia.
Capillary hemangioma

Other great pictures are visible online and one good website with nice images is hemangiomaeducation

The bottom line is that most hemangiomas do not require surgical treatment as they resolve with time. However, large hemangiomas can become an appearance and social issue and family- physician discussions may be helpful.

The other type of lesion is the vascular malformations.  These are more common than tumors (approximately 2:1)  They are typically not visible at birth and they grow with the child to become visible or symptomatic later in life.    Malformations occur when the baby is in the womb but, again, continue to grow (often very slowly) after birth and grow in proportion to the growing child.  They can be venous, lymphatic, arteriovenous, capillary, etc.  Venous malformations are most common.

These children may become symptomatic anytime but typically present between ages 2-5.  However, I also see such children for the first time in the teenage years.  Typically, neither the patient nor the family knows when the malformation appeared and it becomes progressively more bothersome as it gets larger.

Here is one example with clinical pictures of a 15 year old male with pain and an enlarging mass in the finger.  It is bluish sometimes and normal colored other times.  It can increase and decrease in size.  This picture is, in my experience, a common situation in that the lesion does not look that "bad."  But, it is growing and can be  painful.  This patient and family requested surgical excision.

Venous malformation, ring finger over middle phalanx.

Tuesday, February 25, 2014

Robohand 2.0 (powered, 3-D printed hand)

The Robohand has been getting an amazing amount of press in recent months.  I have previously blogged on the topic Previous Prosthetic post with basic information.  Since then, there has been a  Kansas City Star article on the topic.  

As I previously mentioned, I had the opportunity to work with senior engineering students at Washington University, Biomedical Engineering 401.  Together with Lindley Wall (my congenital hand partner) and Valerie Calhoun (occupational/ hand therapist at Shriners Hospital), I met with three students: Kendall Gretsch, Henry Lather, Kranti Peddada.  

Biomedical Engineering Students

We met on several occasions to discuss prosthetics in general, challenges with the Robohand, and other issues.  They brought their engineering expertise and we shared our practical experience with prosthetics and the needs of children.  It was a valuable experience as Kendall, Henry, and Kranti had no prosthetic experience and were able to think about the issues in a very different way.  Needless to say, three smart undergraduate students can solve a lot of problems.

This was a "design", rather than a "build" class but they were able to design AND build a basic prototype of a motorized Robohand prosthetic.  It was judged a success as they won the design competition and received an A+ in the class.  But, they are not done and are planning to fit one of the new prostheses for one or two patients, moving forward.

There are 2 key design differences compared to the Robohand: the motor and the working thumb.  This prosthetic is battery powered and controlled with an accelerometer (like in the iPhone).  The thumb moves with a slightly different trigger (compared to finger motion).   Importantly, the total cost is still inexpensive, less than $150.

Motorized, 3-D printed prosthetic hand

Motorized, 3-D printed prosthetic hand, side view.

Motorized, 3-D printed prosthetic hand, fingers.

Motorized, 3-D printed prosthetic hand, one more view.
Amazing, right?  However the still pictures above simply do not do it justice.  Here are 2 videos to better show its potential.  Watch how the shoulder- motion up/ down- powers the finger motion and then shoulder motion- front/ back- powers thumb motion.  Currently, it has been set to require a good deal of motion to power the prosthetic but that can be easily changed.  When the prosthetic is fit for the particular patient, the specific controls and sensitivity of the controls will be altered for each child!