Friday, October 23, 2015

Radial Deficiency, Doing Fine

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

Sunday, October 11, 2015

Rare Bone Tumor- Fibrous Dysplasia

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

Young Adult with Multiple Hereditary Exostoses

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

Thursday, October 1, 2015

Finger Bump

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