Sunday, February 26, 2017

The Hand in Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia (MED) is an uncommon anomaly of the bone and cartilage at the ends of the bones (epiphyses) in the growing child.  There are 6 primary types of Multiple Epiphyseal Dysplasia. All are transmitted in an autosomal dominant fashion except type 4.

EDM1 is caused by a heterozygous mutation in the gene encoding cartilage oligomeric matrix protein              (COMP).  Most common.
EDM2 -a mutation in the COL9A2 gene
EDM 3 -a mutation in the COL9A3 gene
EDM 4 -a mutation in the DTDST gene.  This type is autosomal recessive whereas the others are                      autosomal dominant. 
EDM5 -a mutation in the MATN3 gene
EDM6 -a mutation in the COL9A1 gene

Historically, the more severe type of Multiple Epiphyseal Dysplasia was known as the Fairbank type (dominant) while the more mild form was known as the Ribbing type.  The Ribbing type was thought to have normal or more normal wrist and hands.   These terms are no longer utilized.

The abnormal epiphysis at the bone ends leads to progressively worsening ossification and this causes joint abnormalities often leads to stiff joints and arthritis.  Onset varies by the particular type- more severe types present earlier with childhood pain, often in the hip or knees but also potentially involving the hands and wrists. The fingers may be short and stiff.

The diagnosis is based on a clinical suspicion but it can be a challenging diagnosis which is based on the patient’s history and examination.  An experienced orthopedic surgeon or radiologist may detect x- ray changes- this experience is the key to making the diagnosis.  The diagnosis may be confirmed by genetic testing as noted above.

There is no current treatment to prevent worsening or change the course of Multiple Epiphyseal Dysplasia.  Ultimately, there is a future potential for genetic intervention.  Currently, hand or physical therapy may be helpful to maintain motion and surgery can be helpful to contour the bone and joints and improve motion and decrease pain. 

This is the case of an 8 year old child with Multiple Epiphyseal Dysplasia.  I met the patient to assess the hands and wrists which had been stiff since a young age.  There was discomfort with daily activities but the biggest issue was related to function given the finger stiffness (present for many years).  The clinical pictures demonstrate the finger posture (most notably PIP joint stiffness)  and the x- rays confirm loss of joint spaces.

Multiple Epiphyseal Dysplasia hand clinical photograph with stiffness of multiple joints

Multiple Epiphyseal Dysplasia hand side- view clinical photograph with stiffness of multiple joints

Multiple Epiphyseal Dysplasia hand x- ray

Charles A. Goldfarb, MD
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Sunday, February 19, 2017

The Crooked Thumb

The process of limb development is truly amazing and unbelievably complex.  Developmental biologists and scientists help to explain these processes and our knowledge grows day by day.   As I explain to parents, what is truly remarkable is not that there is a child born with a limb difference but rather that it happen so uncommonly.  One such uncommon finding is a crooked finger, or for the purposes of this post, a crooked thumb.

In my experience, the most common cause of a crooked thumb is an extra bone which creates a triphalangeal thumb.  I have previously written about the type of thumb HERE.  Typically, there are two bones in the thumb but, like fingers, there can occasionally be three bones- the TRIphalangeal thumb.  This can occur in association with an extra thumb (see HERE) or in isolation.  Not every triphalangeal thumb is crooked- the alignment depends on the shape of the extra bone.

When the extra bone is triangular in shape, the thumb is crooked and can affect function.  Typically, surgery to remove that bone (or straighten it) is performed.  In doing so, the thumb is shortened as well.  When the extra bone is more normally shaped- rectangular- then the thumb is not crooked and a decision for surgery is more complex.  For some kids, the long thumb may not be a problem but for others, the length of the thumb + the extra joint can cause functional issues.

This 18- month old came to the office because of a crooked thumb.  Mom had noticed some difficulty with pinching and decreased use of the thumb.  Here are pictures and x-rays which demonstrate the deformity.

Crooked thumb related to an extra bone- a triphalangeal thumb.

Crooked thumb related to an extra bone- a triphalangeal thumb.  It is more difficult to see in this side- view picture.

The extra bone can be seen in the x- ray causing the thumb to be crooked.
The extra bone in this thumb is more difficult to see in this x- ray.

Surgery to address the crooked thumb addresses the extra bone.  A recent investigation carefully evaluated the best way to surgically treat this condition.  The authors evaluated excision of the extra bone compared to angular correction and fusion of one of the joints- the results were similar.  New Article.

The are other causes of a crooked thumb in a child.  These include the small thumb, or hypoplastic thumb- I have posted numerous times on this TOPIC.  Another cause is less likely in the newborn but common in childhood- a thumb fracture which can classically lead to deviation.

The bottom line is that the crooked thumb can be both a functional and an appearance issue.  Surgery can effectively correct this issue.

Charles A. Goldfarb, MD
My Publication List

Thursday, January 19, 2017

The Arthrogryposis Thumb

I have previously written many times about arthrogryposis and several years ago focused on the thumb- see Link.  As with every part of arthrogryposis, each child is affected differently.  But the thumb is affected, the position of the thumb can really make a big difference.  Consider these points:

1) The thumb normally provides about 40% of hand function.  So, in a child with arthrogryposis and a thumb which is not functioning well- overall hand function will be affected.  The thumb web space is key for holding big objects such as a soda can and, if the thumb is tight, that action may not be possible or may require using both hands together.
2) Not only will a poor thumb limit hand function, it can be doubly bad by also interfering with function by getting in the way.  Kids with more notable arthrogryposis often use both hands together (bimanual activities).  If the thumb is in the palm and can't be moved, using the two hands together may be challenging.

As I have previously written: Link to arthrogryposis posts, there are several surgeries which we in St. Louis like to use to help function including, elbow release, humerus rotational osteotomy, wrist closing wedge osteotomy, and thumb first web space release.

The tight thumb in arthrogryposis is likely due to several factors including limited muscle development and tight skin.  The thumb rests across the palm and straightening it can be tough.  To treat kids so affected, we can rotate skin from the index finger across the thumb web space while releasing tight muscle in the palm.  Sometimes we add a tendon transfer for thumb positioning.  We often hold the thumb in a better position with a metal pin for a few weeks while the soft tissues heal.   Here are a few pictures showing a range of presentations for kids with arthrogryposis and a tight thumb.

Somewhat less severe but still notable tight thumb in arthrogryposis.  Passive motion, demonstrated, was much better than active motion or the patient's ability to pull the thumb out of the hand.

Severe hand involvement in arthrogrypsosis

Severe hand involvement in arthrogrypsosis

If therapy fails to improve thumb position and thumb mobility, surgery can be considered.  Surgery improves thumb passive motion and hopefully also allows the child the ability to actively move the thumb to a better position for function.  Consider these pictures after surgery:

The thumb in arthrogryposis several weeks after surgery with healing of the flap and a markedly improved thumb position.

The thumb in arthrogryposis several weeks after surgery with healing of the flap and a markedly improved thumb position.

 The bottom line is the kids with arthrogryposis can be helped with function through therapy and through surgery.  Treatment of the thumb has become more commonly performed and we (provider and family) have been happy with the results.

Charles A. Goldfarb, MD
My Publication List

Saturday, December 31, 2016

Surgery for Macrodactyly

Macrodactyly is an uncommon birth condition of the upper extremity.  I have posted several previous times on macrodactyly:

Macrodactyly Post
Macrodactyly Post 2

Macrodactyly means 'large finger' and sometimes is referred to as local gigantism.  My other posts have discussed different facts about the diagnosis including why this may happen but here I would like to discuss three potential surgeries for macrodactyly.

1. Local control of size and growth.  It is not uncommon that this surgery is performed multiple times on a young child.  The idea is to debulk the finger (primarily by removing extra fat and skin) but also potentially closing growth plate early.  The appeal of this surgery is that it is straightforward and seemingly less of a major step.  But there is a real negative- the potential for the need to repeat this surgery multiple times on a growing child.  This is an important consideration which must be considered.

2.  Ray resection.  If there is one large digit in macrodactyly, excision of that digit may be the best option.  This might make sense for a few reasons including the fact that the digit likely does not function well (often stiff) and is a cosmetic concern.  It is typically the middle finger that is large although the thumb and index finger may be involved.  But, when the middle finger is the one that is primarily involved, the functional and appearance concerns can be made notably better with this surgery.  The surgeon must consider whether to:
- only excise the middle finger (often called the ray resection which means removal of the finger and the appropriate metacarpal bone of the hand)
- excise the middle finger and move the index finger into its position.  The benefit of this surgery is that it makes a more normal appearing hand and removes the gap between the index and ring fingers.

Here is a recent surgical case in an adult who had grown frustrated with his large middle finger which did not help him functionally.  
Macrodactyly primarily involving middle finger.

Macrodactyly primarily involving middle finger.
Macrodactyly after ray resection with a nice appearance outcome.
Macrodactyly after ray resection and carpal tunnel release

3. Carpal tunnel release.  Macrodactyly is often associated with an enlarged median nerve and enlarged nerves to the fingers (digital nerves).  In both kids and adults with macrodactyly, this can lead to carpal tunnel syndrome including pain, numbness, and tingling.  A relatively straightforward carpal tunnel release surgery can relieve these symptoms.

Here is another recent macrodactyly case in which the patient was not concerned about the appearance of the hand and felt that function was satisfactory.  The thumb and index finger were most affected.  We therefore only performed a carpal tunnel release for the symptoms of pain and tingling.

Macrodactyly involving the thumb and index finger primarily.

Macrodactyly involving the thumb and index finger primarily.

Charles A. Goldfarb, MD
My Bio at Washington University
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Saturday, December 3, 2016

Simple Surgery for Symbrachydactyly

I have posted on several times on symbrachydactyly, with one post HERE.  Each child with symbrachydactyly, and really any birth difference of the upper extremity, is unique. No matter their bony and soft tissue deficit, their family situation and functional needs must also be considered.  So even if two kids look similar, I believe that musculoskeletal appearance is only part of the story- many other issues are considered.

This child has symbrachydactyly with a single digit (monodactyly type).  The thumb tip is flexed and he cannot straighten it.  His other extremity is normal.  Overall, he functions well.  The question that we discussed with the family is whether anything could be done to further improve his function.  Note the small palm which is typical in symbrachydactyly.

Symbrachydactyly with a single digit.

Symbrachydactyly with a single digit- side view.

Symbrachydactyly with a single digit- palm view.

Our team had discussions with the family and observed his function with activities.  Given that the thumb would not extend, together we all decided to position the thumb in extension with a stiffening of the joint (like a fusion but given the bony immaturity, technically not a fusion).  This more extended position should help with activities and will allow the patient to better use the hand for function.

Symbrachydactyly post surgery top view.

Symbrachydactyly post surgery- side view.

The pins will be in place for about one month and then he will use a splint temporary.  We look forward to this straightforward surgery improving function.

Charles A. Goldfarb, MD
My Bio at Washington University
My Publication List

Sunday, November 20, 2016

Clasped Thumb Follow Up

I have posted several times on clasped thumb, a rare condition in which the muscles that straighten the thumb are slow to develop and the thumb rests across the thumb.  It must be differentiated from several other diagnoses included trigger thumb and spastic thumb (in which the tight muscles pull the thumb down).  Here are links to the other two posts: Post 1 and Post 2.

In, this post, I wanted to briefly share the early results after surgical treatment for clasped thumb.  Surgery is usually not required.  In most cases, support in the form of a soft splint or hard splint allow the thumb muscles time to develop.  However, for the rare child, those muscles don't develop and we perform a tendon transfer- where we move a muscle/ tendon from one position to the thumb to improve the strength of extension.  Good results are expected and, at early follow- up, here at 3 months, good results have been obtained.  Remember, it is not easy to capture pictures of a very active 2 year old but I believe we can see the results!

Patient doing well after clasped thumb surgery

Excellent thumb straightening 3 months after clasped thumb surgery.

Charles A. Goldfarb, MD
My Bio at Washington University

Saturday, November 19, 2016

Patient Pollicization Testimonial

Gracie is an 11- year old who had a pollicization 3 months ago for her hypoplastic (small) thumb. Compared to the typical patient treated with a pollicization, Gracie is unusual because she was much older at the time of her surgery.  Gracie's age at the time of surgery does bring a few challenges mainly because she has been using her four finger hand with her 'small' thumb for her entire 11 years. However, she came to realize the challenges of life without a highly functional thumb- her thumb did not function .  The thumb is key for large object grasp such as grasping a soda can which is impossible with the fingers for most of us.  Additionally, the thumb allows fine pinch- also very difficult with the fingers.  Gracie and her family elected to proceed with the surgery.  Below find pictures before and immediately after surgery.

Hypoplastic thumb before surgery
Hypoplastic thumb before surgery

New thumb immediately after surgery
New thumb immediately after surgery

New thumb immediately after surgery

I recently saw Gracie in the office 3- months after her surgery.  She is an impressive and dynamic 11 year old and agreed to share her thoughts on video.  She is very excited about the results of the surgery.  Her thumb is working great and will continue to get better.  I wanted to capture Gracie on video as her words may help parents considering this surgery for their child.

I hope these pictures and, more importantly, this video are both helpful for families considering the pollicization procedure!

Charles A. Goldfarb, MD
My Bio at Washington University