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Chondrosarcoma
Online Course: Introduction to Paediatric Physiotherapy

Introduction

Chondrosarcoma - proximal femur

Chondrosarcomas are malignant cartilaginous tumours, accounting for ~25%

of all primary malignant bone tumours. They are most commonly found
in older patients , most commonly effecting the pelvis, sternum, scapula,
or cartilage of long bones in the extremities.
Typically, chondrosarcoma forms within bone or cartilage cells around the
articular surfaces and can be either slow-growing and form spontaneously, or
due to malignant changes in a preexisting (secondary) bone tumour. [1][2]

Epidemiology

The typical presentation is in the 4th and 5th decades and there is a slight
male predominance of 1.5-2:1. It is possible to develop chondrosarcoma at
younger age groups, which usually leads to higher malignancy and metastases
rates. The sites most often affected are the proximal femur, followed by the
proximal humerus.[1][3][2]

Clinical Presentation

Patients usually present with pain, pathological fracture, a palpable lump or

local mass effect. Hyperglycaemia can occur as a paraneoplastic syndrome .[2]

Diagnosis

Chondrosarcoma histopathic

Imaging tests include:

 Bone scans: Show damage and where the cancer has spread. Hot spots,
look dark gray or black on the image.
 CT: Help detect the cancer and see if it moved into other areas.
 MRIs: Show the outline of a tumor.
  PET scans use radioactive tracers to look inside patient and help
discover if a tumor is cancer or not. They can also see if it has spread
and find its exact location.
 X-rays: Show tumor's location, shape, and size.
 Biopsy: Takes a sample of the tumor to test for cancer. Done with a
needle or surgery. [4]

Medical Management

Following a biopsy to confirm the diagnosis, surgery is the most common

procedure to remove the tumor. Even for higher grade tumors, limb-sparing
curettage (via cryotherapy) is more common, with amputation occurring in
rare instances.

Unlike most cancers, typical chondrosarcoma does not respond to

chemotherapy and is resistant to radiation therapy. Different forms of
chondrosarcoma including dedifferentiated and mesenchymal may be trial
chemotherapy before or after surgery and follow a similar protocol to
osteosarcoma and Ewing's sarcoma respectively. Depending on the grading of
the sarcoma, proton-beam radiation has had some success, but does require
very high doses and is considered less frequently than surgical approaches. [5][6]

Physical Therapy Management

Physical therapy management will most often occur following surgery to

excise the tumor. Depending on the site of the lesion, the surgeon may have
different protocols, but physical therapy can focus on treatments that will
decrease pain, decrease edema, and improve patients' quality of life .

Following surgery, an acute care physical therapist will teach the patient skills
like bed mobility, weight bearing precautions, ambulation, and stair
negotitation. In outpatient physical therapy, the patient will undergo manual
therapy and soft tissue mobilization to improve tissue extensibility, reduce
edema, and improve range of motion. The patient will also perform
therapuetic exercises to increase range of motion and muscle strength to
address deficits normally seen following surgery. Gait training will continue to
be incorportated and adapted to the changing weight bearing precautions set
forth by the surgeon. As the patient progresses, the treatments will progress
to become more functional and incorporate activities that are important to the
patient.[7]

Alternative/Holistic Management

Currently, there are no evidence based, documented reports of

alternative/holistic management for chondrosarcoma.

Differential Diagnosis

Chondrosarcoma presents similarly to other musculoskeletal

injuries/illnesses of the affected joint. For example, a patient with
chondrosarcoma of the hip will complain of intermittenet anterior thigh/hip
pain. The pain can present as either hip joint in origin or nonarticular hip
origin. Other diagnoses with pain of hip joint origin include osseus necrosis,
stress fracture, hip dysplasia, or intra-articular pathology (labral tear,
ligamentum teres tear, or loose body in the joint). Diagnoses of nonarticular
hip origin of pain include bursitis, tendonopathy, muscle strain, urogenital
conditions, metabolic disease, vascular conditions, or infection. [3]

Case Reports

Ferrer-Santacreu E, Ortiz-Cruz E, Díaz-Almirón M, Pozo Kreilinger J.

Enchondroma versus Chondrosarcoma in Long Bones of Appendicular
Skeleton: Clinical and Radiological Criteria—A Follow-Up. Journal Of
Oncology [serial on the Internet]. (2016, Feb 23), [cited April 10, 2016]; 1-10.
Available from: Academic Search Complete.
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Related articles
Osteosarcoma - Physiopedia Definition/Description Osteosarcoma is also known as
osteogenic sarcoma. Osteosarcoma is a malignant primary cancer of long bones.
Evidence of malignant osteoid bone and/or cartilage formation with destructive lesions
and sclerosis is characteristic of the disease[1]. Differentiating osteosarcoma from other
tumors is defined by the production of an extensive and incompletely mineralized
matrix that is seen with histological staining[2]. Prevalence[edit | edit source]
Osteosarcoma accounts for 15% to 20% of all primary bone tumors and is the second
most malignant condition of bone. It occurs most frequently in male adolescents and
young adults under the age of 30, peaking in frequency during the adolescent growth
spurt with another smaller peak in adults over the age of 50.[1] Review of data from the
Surveillance, Epidemiology and End Results program of the NCI resulted in an estimate
of 4.4 per million new cases of osteosarcoma each year in people aged newborn to 24
years[3]. “The U.S. Census Bureau estimates that there will be 110 million people in this
age range in 2010, resulting in an incidence of roughly 450 cases per year in children
and young adults less than 25 years old. Osteosarcoma accounts for approximately 5%
of childhood tumors. In children and adolescents, more than 50% of these tumors arise
from the bones around the knee[3].”[3] Characteristics/Clinical Presentation[edit | edit
source] The patient most often presents with pain prior to soft tissue swelling and an
enlarging bone mass. This is due to the stretching of the periosteum which usually
causes pain before the tumor is detected. Pain could also result from the weakening of
the bone and the development of minute stress fractures. The pain may be present for
several weeks to several months[1]. The majority of patients with osteosarcoma present
with localized pain at the primary tumor site.[3] Range of motion may also be limited as
the tumor encroaches upon the joint space.[1] The most commonly affected bones are
the metaphyseal region of long bones such as the: distal femur proximal tibia proximal
humerus Although, these areas are most common, osteosarcoma can arise in any bone
in the body[4]. Systemic symptoms such as weight loss, pallor and fever are uncommon.
The patient may be a tall adolescent, with males presenting more often than females.
Distal locations of the tumor have a more favorable prognosis than proximal sites.
“Axial skeleton primary tumors are associated with the greatest risk of progression and
death, primarily related to the inability to achieve a complete surgical resection. Pelvic
osteosarcomas make up 7%-9% of all osteosarcomas; survival rates for patients with
pelvic primary tumors are 20% to 47%.”[3] Associated Co-morbidities[edit | edit
source] Patients with Rothmund-Thomson Syndrome (RTS) have an increased risk of
developing osteosarcoma when compared with the general population. They also
develop osteosarcoma at an earlier age. RTS is also called poikiloderma congenital,
which is a rare autosomal recessive condition[3]. This condition is characterized with
skin issues such as atrophy, telangiectasias, pigmentation change, thinning or sparse
hair, cataracts, small stature and skeletal anomalies[1]. Other familial osteosarcoma
syndromes which predispose an individual to osteosarcoma include[5]: •
Retinoblastoma • Li-Fraumeni syndrome • Werner syndrome • Blooms syndrome •
Paget’s disease • Fibrodysplasia • Enchondromatosis (Ollier disease) • Hereditary
multiple exostoses. “Another condition which may predispose the patient to the
development of osteosarcoma is radiotherapy. For a sarcoma to be considered a post
radiation tumor, the following conditions must be met: (1) A history of previous
radiation (2) Development of the sarcoma in a bone that was in the field of radiation (3)
A latent period between radiation and the development of osteosarcoma….most
osteosarcomas arise between 5 and 10 years after radiation (4) Histologic difference
from the previous tumor, which may have been irradiated. Most sarcomas arising in the
field of radiation are high-grad osteosarcomas.”[6] Among 220 children who were given
Ra IV as therapy for tuberculosis, many developed osteosarcoma[7]. Medications[edit |
edit source] • Chemotherapy – Combination therapy with gemcitabine and docetaxel in
refractory bone sarcomas -Methotrexate (given in high doses along with leucovorin
to help prevent side effects) -Doxorubicin (Adriamycin) -Cisplatin or carboplatin
-Etoposide -Ifosfamide -Cyclophosphamide -Epirubicin -
GemcitabineTopotecan Usually, several drugs are given together. Some common
combinations of drugs include: -High-dose methotrexate, doxorubicin, and cisplatin
(sometimes with ifosfamide) -Doxorubicin and cisplatin -Ifosfamide and
etoposide -Ifosfamide, cisplatin, and epirubicin15 • Radiation Therapy •
Immunotherapy - Interferon-alpha • "Emerging therapies: • Immunostimulant:
muramyl-tripeptide phosphatidyl-ethanolamine (MTP-PE) – macrophage inhibitor.
Recent addition of liposomal MTP-PE in combination with adjuvant chemotherapy
resulted in a statistically significant increase in overall survival versus standard
combination chemotherapy. • T-cell responses by vaccination with the anti-idiotypic
antibody mimicking CD55, a complement regulatory protein expressed by many solid
tumors including osteosarcoma. The use of dendritic cell vaccines to enhance cytotoxic
T-cell activation is being evaluated in xenograft models. • Small molecule therapy with
inhibition of the Src kinase pathway involved in osteoclast activity. The orally available
Src tyrosine kinase inhibitor AZD0530 is currently being investigated in a phase II
clinical trial in osteosarcoma with pulmonary recurrence post-metastasectomy."[4]
[edit | edit source] Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
Radiographs - Standard radiographs may present with any of the following
characteristics of osteosarcoma: - medullary and cortical bone destruction - wide
zone of transition, permeated or moth-eaten appearance - aggressive periosteal
reaction + Sunburst type + Codman’s Triangle – A triangular area of new
subperiosteal bone that is created when a lesion raises the periosteum away from
the bone. + Lamellated (onionskin) reaction - less frequently seen - soft-tissue mass
- tumor matrix ossification / calcification - variable: may present with a
combination of bone tumor production, calcified matrix, and osteoid MRI - Uses radio
waves and strong magnets to create an image. No radiation is involved in this
technique. MRI’s are often performed in order to better define a lesion that was
previously identified via radiograph. MRI’s can typically determine whether a mass is a
tumor, an infection, or bone damage from a different source. Bone Biopsy (GOLD
STANDARD) – This technique is an invasive procedure that involves surgically
removing a piece of a suspected tumor. The removed piece of tumor is then examined,
via lab testing, in order to ascertain its exact composition. Chest CT – Scan used to
detect pulmonary metastasis. CT scans are sometimes used to determine whether the
tumor has metastasized into tissues adjacent to the lesion. Nuclear Imaging - Used to
aid in the initial staging/metastatic evaluation and response to therapy. Positron
Emission Tomography (PET) Scan – Utilizes a radioactive substance injected into the
blood stream. The scan is used to obtain a general image of the entire body. The
imaging results can help detect the spread of osteosarcoma cells to other parts/systems
of the body. Blood Tests – Blood tests are not conclusive, but they may be helpful once a
diagnosis is made to help determine the stage of cancer. High levels of alkaline
phosphatase and lactate dehydrogenase (LDH) may suggest that the osteosarcoma is
more advanced. Etiology/Causes [8][edit | edit source] • The pathogenesis and etiology
of osteosarcoma remains obscure • Chemical agents such as beryllium • Viruses such as
FBJ (which contain the src-oncogene) • Radiation • Paget’s disease • Electrical burn and
trauma • Genetic predisposition: hereditary retinoblastoma Systemic Involvement[edit |
edit source] The lungs are most often the first site of metastasis and are also the most
common. The articular cartilage is thought to form a natural barrier to direct tumor
extension.[9] Medical Management (current best evidence)[edit | edit source] •
Chemotherapy - Chemotherapy usually begins before any surgery - Use of adjuvant
chemotherapy increases survival from < 20% to > 65% at 5 years[10] •Radiation •
Surgery - Hemipelvectomy is often required for pelvic tumors[11]. - Approximately
70%-80% of all lesions in this location can be safely treated by a limb-sparing
resection[10] - Amputation is reserved for those patients whose primary tumor is
believed to be unresectable - In limb-sparing surgery the tumor is resected en
bloc[10] - 80% of patients can be treated with limb-sparing surgery without
decreasing long-term survival rate • Desired response is for >95% tumor necrosis • If
there is nearly complete tumor necrosis (about 99%) from preoperative chemotherapy,
5-yr survival rate is > 90%[10] • Treatment is a combination of chemotherapy and
surgery • Continuation of chemotherapy after surgery is usually necessary Mason
Swimmer 5 years post reconstruction Mason Swimmer 5 years post reconstruction
Mason Swimmer 5 years post reconstruction Physical Therapy Management (current
best evidence)[edit | edit source] Osteosarcoma should be treated at large medical
centers where a multi-disciplinary team including physical therapists, occupational
therapists, pediatricians, surgeons, psychologists and nursing staff will help manage the
patient care. In an oncology setting, physical therapists manage the patient’s
musculoskeletal, neuromuscular, integumentary and cardiopulmonary rehabilitation
needs. Physical therapy interventions will consist of early postsurgical mobility
training, strength and endurance restoration, pain control, and education and training
of family members in helping patients with limited mobility. Physical therapists will
help to correct balance and coordination impairments, make recommendations for
home modifications that will enhance the patient’s independence, and educate and train
the family members to assist and enable the patient to function independently. In
addition, physical therapists will train the patient in stump management and training
with the prostheses for those patients who undergo amputation[3]. Rehabilitation
following limb-sparing procedures, rotation plasty, or amputations focuses on
retraining muscles, increasing strength and endurance, balance and range of motion as
well as helping the patient return to school or work activities. Research suggests that
knowledge on the changes occurring in muscle architecture and its impact on long-term
impairments in bone sarcoma survivors after limb salvage surgeries can impact
treatment outcomes[12]. It is of vital importance for the physical therapist to educate
the patient and the adolescent's family inappropriate strength training protocols and
precautions of overuse post-discharge with a limb-sparing procedure. The patient will
most likely have the long bones replaced with titanium rods and skin grafting
procedures. It is also not uncommon to have a total knee replacement if the tumor is
located near the distal femur and proximal tibia. These patients are frequently young
adolescent males eager to return to full activities and may place their salvaged limbs at
risk if they proceed too aggressively at discharge. The Functional Mobility Assessment
(FMA) is a new tool for patients with lower extremity sarcoma. FMA requires the
patient to perform functional mobility tasks.[4] Outcome measures such as the L Test of
Functional Mobility is the modified version of the Timed Up and Go test designed for
people with lower-limb amputations.[5] The Amputee Mobility Predictor is an
instrument to assess the ambulatory potential of lower-limb amputees with and without
the use of a prosthesis[6] Alternative/Holistic Management (current best evidence)[edit
| edit source] Currently, there is no evidence or high-quality clinical study to support
alternative management of osteosarcoma. Differential Diagnosis[edit | edit source]
Ewing’s Sarcoma Rhabdomyosarcoma Chondrosarcoma Chondroma Giant Cell Tumor
Paget’s Disease Osgood-Schlatter’s Disease Case Reports/ Case Studies[edit | edit
source] Ayerza MA, Farfalli GL, Aponte-Tinao L, Muscolo DL. Does increased rate of
limb-spraing surgery affect survival rate in osteosarcoma? Clinical Orthopaedics and
Related Research. 2010; 468:11, 2854-9. Campanacci L, Manfrini M, Colangeli M, Ali N,
Mercuri M. Long-term results in children with massive bone osteoarticular allografts of
the knee for high-grade osteosarcoma. Journal of Pediatric Orthopedics. 2010;
30:8;919-27. Nagarajan R, Kamruzzaman A, Ness KK, Marchese VG, Sklar C, et al.
Twenty years of follow-up of surviors of childhood osteosarcoma; A report from the
childhood cancer survivor study. Cancer. 2011; 117:3, 625-34. Webber NP, Seidel M.
The cutting edge. Combining advanced technologies: the Compress-Repiphysis
prosthesis for pediatric limb salvage. Orthopedics. 2010;33(11)823-7. Wu P, Chen W,
Lee O, Chen C, Huang C, Chen T. The prognosis for patients with osteosarcoma who
have received prior manipulative therapy. J Bone Joint Surgery. 2010. 92:11, 1580-5.
Paluska S. Persistent knee pain in a recreational runner. Department of Family
Medicine. University of Washington, Seattle. 2002. Sahin H, ,Ceylan N, Bayraktarogulu
S, Savas R. Cardiac metastasis of osteosarcoma: A case report.Central European Journal
of Medicine. 2010; 5:551-555. Koob M, Durckel J, Dosh J, Entz-Werle N, Dietemann JL.
Intercostal myositis misdiagnosed as osteosarcoma in a 10 year-old child.Pediatric
Radiology. Springer-Verlag. 2010; 40:1, S34-S37. Intracortical osteosarcoma of the tibia
in a 14-year-old girl. http://www.ncbi.nlm.nih.gov/pubmed/21304410 Karacalioglu O,
Ilgan S, Kuzhan O, Emer O, Ozguven M. Disseminated metastatic disease of
osteosarcoma of the femur in the abdomen: unusual metastatic patter on Tc-99N MDP
bone scan. Annals of Nuclear Medicine. 2006; 20:6, 437-440.
http://www.jsnm.org/files/paper/anm/ams206/ANM20-6-09.pdf. Resources[edit |
edit source] • Merck Manual: http://www.merckmanuals.com • National Cancer
Institute: http:// www.cancer.gov • National Institute for Health: http://www.nih.gov •
Texas Childrens Hospital: http://texaschildrenshosital.org Wilms Tumor -
PhysiopediaIntroduction Wilms tumour is a malignant paediatric renal tumour. Also
known as nephroblastoma.[1] Epidemiology[edit | edit source] Wilms tumours are the
most common paediatric renal cancer (reportedly 85% of cases) and 7% of all childhood
cancers are Wilms tumours. They are most common in children ages 3 to 4 and becomes
much less common after the age of 5.[2] Wilms’ tumor affects boys and girls equally,
and can also be found in adults, though it is very rare.[3] Etiology[edit | edit source]
The cause of Wilms tumor is not precisely known, but genetic alterations that deal with
the normal embryological development of the genitourinary tract are thought to be
causative. Wilms patients with a relative with the disease (typically not a parent)
number less thyan 1%.[4] Watch this 1 minute video on Wilms
tumour. [5] Characteristics/Clinical Presentation[edit | edit source]
Wilms’ tumor is often hard to find early because the tumor can grow large without any
signs or symptoms. These children may look and act normally.[6] The most common
first clinical sign is swelling or a hard mass in the abdomen. It is often firm and large
enough to be palpated on both sides of the abdomen, and is usually not painful.[6]
Haematuria occurs in ~20% of cases. Hypertension, due to excessive renin production,
is found in up to 1/4 of patients. Acquired von Willebrand disease occurs in 8% of cases.
[1] Diagnosis[edit | edit source] Kidney cancer stage Diagnosis includes: A physical
exam looking for possible signs of Wilms' tumor. Blood and urine tests to see how the
kidneys are working. Imaging tests may include an ultrasound, computerized
tomography (CT) or magnetic resonance imaging (MRI).[2][6]
Management[edit | edit source] Management of Wilms’ tumor involves surgery,
chemotherapy, and radiation therapy. Most children will receive more than one type of
treatment. Treatment is based on both the stage and histology of the Wilms’ tumor.[7]
Unilateral Wilms tumours are, usually, treated by a combination of nephrectomy and
chemotherapy. Radiotherapy has a small role, but may be used if peritoneal spread or
incomplete resection occurs. Cure today is possible ~90% of the time. Recurrence can
occurs within the tumour area, or distally within the lungs or liver.[1] Physical Therapy
Management[edit | edit source] There are several long-term side effects of
chemotherapy. Childhood cancers tend to respond better to chemotherapy than adult
cancers. [6]Children’s bodies also tend to tolerate it better than adults do. Side effects
of chemotherapy can include fatigue or extreme tiredness from having too few red blood
cells. Musculoskeletal complications that can occur due to radiation therapy include
growth abnormalities and hypoplasia. [6]Mild scoliosis and mild asymmetry of all
musculoskeletal structures can occur due to reduced growth of bone and paravertebral
muscles. These effects are more pronounced the younger the patient is at the time of
radiation therapy. [6] Physical therapy interventions may include strengthening
postural muscles and also increasing endurance to promote a higher quality of life.
Patients should avoid heavy lifting due to the decreased bone density and risk of
osteoporosis.[6] Alternative/Holistic Management[edit | edit source] Complementary
medicine is treatment used in combination with regular medical care. Alternative
treatments are used instead of the traditional medical treatment.[6] Although there are
not any alternative medicines to surgery, radiation or chemotherapy, there are
complementary treatments including art therapy or play therapy to reduce stress,
peppermint tea to relieve nausea, and acupuncture to help relieve pain. [6] Differential
Diagnosis[edit | edit source] - Clear cell sarcoma - Malignant rhaboid tumor -
Autosomal recessive polycystic kidney disease (ARPKD) - Autosomal dominant
polycystic kidney disease (ADPKD) - Hydronephrosis - Renal carbuncles - Hemorrhage
- Neuroblastoma, an embryonal malignancy of the adrenal gland, usually affect the
same age group and commonly arise in the same general region of the abdomen [8] [6]
Case Reports/ Case Studies[edit | edit source] WT1 mutation as a cause of 46 XY DSD
and Wilm's tumour a case report and literature review Wilms' Tumor Metastatic to
Bilateral Testes at Presentation Case and Review of the LiteratureExtrarenal Wilms'
Tumor of the Ovary- A Case Report and Short Review of the Literature Pancoast
Tumor - Physiopedia Introduction Pancoast Tumour A pancoast tumour is a relatively
uncommon primary lung cancer forming in the lung apex and invading the surrounding
soft tissues. This is a tumour type is hard to difficult to treat because of its closeness,
and frequent metastasis, to adjacent structures such as the subclavian vessels,
lymphatic system, brachial plexus, spine, second and third ribs, stellate ganglion, and
the sympathetic nervous system.[1] Pancoast tumors are often mis-diagnosed and/or
diagnosed too late.[2] Etiology[edit | edit source] Common risk factors include (similar
to lung cancer): Smoking Secondhand smoke Asbestos exposure Exposure to industrial
elements like gold or nickel Diesel exhaust[3] Epidemiology[edit | edit source] Pancoast
tumours account for 3-5% of all bronchogenic carcinomas and having demographics
similar to other lung cancers (see link). Characteristics/Clinical Presentation[edit | edit
source] Pancoast MRI Symptom commonly include: chest shoulder and/or arm pain;
weight loss (frequently present). Pancoast syndrome occurs in 25% cases and includes:
severe pain in the shoulder region radiating toward the axilla and scapula along the
ulnar aspect of the muscles of the hand; atrophy of hand and arm muscles; Horner
syndrome (ptosis, miosis, hemianhidrosis, enophthalmos); and compression of the
blood vessels with edema."[4][5] Diagnosis[edit | edit source] Diagnosis is often
difficult and delayed due to the typical absence of lung cancer symptoms and includes a
combination of CT scans and MRI followed by a biopsy confirmation [1]. Systemic
Involvement[edit | edit source] Pancoast tumor spreading Pancoast tumors are often
mis-diagnosed or diagnosed too late to prevent metastasis to adjoining structures. This
form of lung cancer is very dangerous because of its close proximity to other structures
that include[2]: Brachial plexus- this is commonly invaded at the ulnar distribution
(C8-T1), thus atrohpy/parasthesia of the ulnar distribution is reported. This is often the
patient's primary complaint/presentation to therapy with shoulder pain that radiates
down to the 4th and 5th digit.[1] Subclavian vessels- metastasis to the subclavian artery
or adjoining structure may lead to deterioration or compression of blood vessels
causing edema.[6] Stellate ganglion- This is a large ganglion located at the bottom of
the cervical spine in connection with the thoracic spine and is related to the
sympathetic nervous system. Invasion of this may result in Horner's Syndrome.[3]
Adjacent vertebral bodies- If the tumor is able to metastasize the vertebral bodies, this
may lead to permanent paralysis of the affected area.[3] Medical Management[edit |
edit source] For many years, Pancoast tumors were considered untreatable. In recent
decades, the outlook for people with Pancoast tumors has greatly improved.Treatment
for Pancoast tumors involves a combination of chemotherapy, radiation, and surgery.
Treatment depends on the extent of involvement especially through the apex (these
tumours usually involve the brachial plexus and subclavian vessels). In this case,
radiotherapy is typically administered in an attempt to reduce the tumour sufficiently to
allow for attempted resection. If the tumor has metastasized to areas beyond the chest
surgery may not be appropriate.[7] Complete resection is the major factor in
determining survival complete resection achieved - 45% 5-year survival incomplete
resection only - 0% 5-year survival[5] Physical Therapy Management[edit | edit source]
A mutimodal management of the patient is needed. When it comes to pancoast tumors,
the primary role of the Physical Therapist is post operative treatment to prevent
respiratory complications including atelectasis and pneumonia, and control the
patient’s pain levels. The patient is immobilized the first post op day with attention to
chest Physiotherapy and bronchoscopic suctioning may be necessary to clear secretions
in patients with ineffective cough [4]. Intensive respiratory care should be implemented
and chest expansion measurements should be taken to ensure: [8] Adequate ventilation
using mechanical support (if necessary) Satisfactory chest tube function Clearance of
secretions by mobilizing, coughing, chest physiotherapy, nasotracheal or orotracheal or
bronchoscopic suctioning, or a temporary tracheostomy Adequate analgesia Increased
transpulmonary pressure with incentive spirometry or continuous positive airway
pressure mask. Avoid fluid overload and use diuretics judiciously to avoid acute
respiratory distress. Chest tubes remain in place until all air leaks have stopped, there is
complete lung expansion and almost no fluid drainage present [8]. The role of the
Physical Therapist it also depends on the type of surgery approach used. Its focus could
be the articular mobilisation of the shoulder complex, the neck and the thoracic spine
according to the surgeon. Soft tissue mobilisation around the scar (it can block the
normal clavicular or scapular range of motion) can be performed 2-3 weeks after
operation. Early mobilisation of the gleno-humeral can prevent secondary shoulder
limitation in the ADL as subluxation and adhesive capsulitis [9]. Specific scapular
mobilisation could be address to the limited range of motion and to the local pain after
surgery. To obtain better outomes the passive and active self mobilisation of the
thoracic spine and of the cervical spine could be useful in the early stages of
rehabilitation. The muscular strengthening of the arm and of the shoulder girdle can be
performed in the early stages of rehabilitation. At the beginning isometric contraction
could be useful to avoid excessive pain caused by repetitive active mobilisation. The
simultaneous respiratory and surgical complication must be assessed before starting the
strenghtening program. Ulnar nerve self mobilisation Pancoast tumors with brachial
plexus involvement use to underwent to neurosurgical nerve resection of C8-T1 roots.
The tumor resection and the neurolysis could both outcome in a significant loss of hand
function in many patients. In those cases the PT could prevent the muscluar retraction
of hand and wrist with splints or orthesis. Exercises address to mobility and strenght
can improve the quality of life and the arm and shoulder function. The use of the Upper
Limb Tension Test 3 (ULTT3) as a neurodynamic slider mobilisation could be a good
exercise in the first stages of rehabilitation. The passive neurodynamic mobilisation
could be address to make feel the patient comfortable in the positione: then self ulnar
nerve mobilisation in contribution to a specific home exercise program could improve
range of motion both acting on the mechanosensitivity of the nerve and on the articular
active movements of scapula and gleno-humeral. In that cases in which the abduction of
the shoulder is limited some variation could be performed. Laser therapy in
combination with and individualized wellness program is also effective in treating this
condition and can improve the patients overall health and wellbeing. [9] Ultrasound
therapy could be locally contraindicated in those patient who risk bones or pulmunar
metastasis. Differential Diagnosis[edit | edit source] Lung Cancer; Non-Small Cell or
Oat Cell (Small Cell) [6] Thoracic Outlet syndrome Pulmonary echinococcosis [10]
Pulmonary leiomyosarcoma [11] C8-T1 radiculopathy [12] Primary Ewing's sarcoma [6]
Cushing Syndrome[9] Case Reports/ Case Studies[edit | edit source] Paravertebral
Cervical Nerve Block in a Patient Suffering from a Pancoast Tumor Pancoast Tumour: a
case report Severe Pancoast Tumour Alleviation of Pancoast tumor by Ultrasound-
guided Percutaneous Ablation of Cervical Nerve Roots Superior Pulmonary Sulcus
TumorSturge-Weber Syndrome - Physiopedia Definition/Description Sturge-Weber
Syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a sporadic
neurocutaneous disorder that affects the meninges (most often the pia mater and
acrachnoid mater) of the brain and the skin of the face. Involvement is normally
unilateral, but may be bilateral. The disease is caused by embryonic blood vessels that
fail to regress at the appropriate time of development. This leaves residual blood
vessels that result in the formation of angiomas on the face, in the meninges, and in the
ipsilateral eye. The angiomas of the face are referred to as port wine stains and are
most often present in the opthalmic and maxillary divisions of the trigeminal nerve.[1]
Those affected by the disorder may have involvement of both the CNS and the skin of
the face or they present with only one area of involvment. The Roach Scale is used to
classify the disorder into three types, based on the areas that are affected by the
residual blood vessels. Type I: Angiomas are present in both the skin of the face and
meninges, ipsilateral eye is also typically affected Type II: Angioma only present on the
face, ipsilateral eye may be affected Type III: Angioma only present in the meninges,
ipsilateral eye is usally not affected[2] Hypertrophy of the tissue directly beneath the
angioma is typically present. This may lead to assymetries in facial features in addition
to the port wine stain. Hypertrophy may also also lead to calcification within CNS
resulting in neurological symptoms that include seizures, focal deficits, headaches, and
developmental delays.[1] The neurological symptoms of SWS are progessive in nature.
[3] This is most commonly attributed to the "vascular steal phenomenon" in which the
residual blood vessels steal blood from the rest of the cortex resulting in hypoxic injury
to CNS tissue and increased calcification around the angioma. This leads to increased
risk for seizures and neurological deficits.[1] Prevalence[edit | edit source] The
incidence of SWS is estimated to be 1 per 50,000. Race has not been reported to have
an influence on the prevalence of the disorder.[4] Both sexes have been documented to
be affected equally.[1] Characteristics/Clinical Presentation[edit | edit source] As it was
stated before, SWS primarly affects three areas - the skin of the face, the meninges of
the brain, and the eye. Each of these areas can be affected in a number of different
ways. The possible manifestions of the disease are described below. Manifestions of the
Face: Port Wine Stains most often present in the distribution of the trigeminal nerve.
Typically the opthalmic and maxillary divisions are most affected, while the mandibular
portion is affected less often. Port wine stains associated with SWS are often
progressive. They begin as a light pink color at birth and then become a dark red or
purple color as the disease progresses. Port wine stains are not always isolated to the
face and may be present on other areas of the body. The presence of a port wine stain
alone does not indicate SWS. It is necessary to differeniate between SWS and other
cutaneous disorders that may present similar skin pigmentation abnormalities.[5] Port
wine stain in the trigeminal nerve distribution. [6] Manifestations of the CNS: Seziures
can be attributed to ischemia of the cortex and irritation of the brain secondary to
calfication. Most seizures begin within the first 24 months of life and indicate a higher
risk for developmental delay than those who do not have seizures. Earlier onset may be
seen in those with bilateral involvement. Seizures are normally partial and focal due to
the focal nature of the angioma associated with SWS. Seizures can often be at least
partially controlled with medication. [5] Hemiparesis may occur if CNS damage is
present in an area of the brain responsible for motor control. The specific location of
the damage will determine that areas of the body that are affected and to what extent.
Hemiparesis is often accompanied by a migraine headache indicating a vascular
problem.[7] Developmental delay may occur as result of decreased blood supply to the
cortex. The severity of developmental delay is based upon the amount of neurological
damage. Earlier onset of seizures generally indicates a greater risk for developmental
delay. Learning disorders and attention deficit hyperactivity disorder may also
accompany developmental delays.[4] Headaches tend to develop because of vascular
disease. Headaches are typically described migraine-like and can be debilitating. Onset
of headaches varies based on the progression of the disease. Onset at <10 years of age
is a common finding in children with SWS.[5] Manifestations of the Eye: Glaucoma
normally develops in the ipsilateral eye only when the eyelid is affected by the port wine
stain (opthalmic portion of the trigeminal nerve). Occasionally, bilateral glaucoma my
occur in cases of bilateral vascular abnormalities. Glaucoma tends to development
either in the first year of life or between the ages of 5-9.[5] Blindness may result if
glaucoma is left untreated. Elevated intra-ocular pressure levels may lead to damage to
the optic nerve. Visual deficits may present as feild cuts or total blindness.[5]
Buphthalmos or enlargement of the eye may occur secondary to the hypertrohy is often
present beneath areas of port wine stain.[5] Associated Co-morbidities[edit | edit
source] There are no significant co-morbidities associated with Sturge-Weber syndrome
outside of the primary manifestations of the disorder. Medications[edit | edit source]
Medications used to treat SWS will vary greatly depending the presentation of
symptoms in those with the disorder. Medical Intervention can include any of the
following: Anticonvulsants work to discontinue electrical siezure activity quickly and
reduce the likelihood of siezure reoccurance. Examples of these medications include
Carbamazepine (Tegretol), Phenytoin (Dilantin), Valproic acid (Depakote, Depakene,
Depacon), Gabapentin (Neurontin), Lamotrigine (Lamictal), as well as many others.[8]
Beta Blockers are used to help decrease intraoccular pressure by reducing the amount of
aqueous humor produced in the eye. Aqueous humor is a plasma-like substance
largely composed of protiens which help support and nourish occular tissue. Aqueous
humor also assists in maintaining appropriate intraoccular pressure but in those with
SWS this substance is overproduced. Levobunolol 0.25% or 0.5% (Betagan) is a beta
blocker commonly used in SWS. [8] Carbonic Anhydrase Inhibitors lower intraoccular
pressure in much the same way that beta blockers do, by reducing production of
aqueous humor. These drugs include Dorzolamide 2% (Trusopt) and Brinzolamide 1%
(Azopt).[8] Prostaglandin Analogues also work to lower intraoccular pressure, though
instead of decreasing aqueous production directly they, instead, increase the outflow of
the fluid away from the eye through the proper pathway. This pathway is known as the
uveoscleral pathway and is located inferior to the eye. Latanoprost 0.005% (Xalatan) is
a prostaglandin analogue used for this purpose.[8] Topical Corticosteroids are used to
treat occular symptoms. Prednisolone acetate 1% inhibits the edema, fibrin
deposition,capillary dilation and phagocytic migration during the acute inflammatory
response. Dexamethasone ophthalmic (Maxidex, Ozurdex) and Triamcinolone
(Triesence) work by suppressing the migration of polymorphonuclear leukocytes and
reversing capillary permeability. [8] Antineoplastic Agents work by inhibiting
DNA synthesis in order to decrease or stop cell growth and proliferation. Two examples
of antineoplastic agents are Fluorouracil (Efudex) and Mitomycin. [8] Diagnostic
Tests/Lab Tests/Lab Values/Imaging[edit | edit source] The diagnosis of Sturge-Weber
Syndrome is most commonly made by the observation of a facial port wine stain in
combination with abnormal blood vessels on the suface of the brain and/or glaucoma.
Diagnosis is typically made at birth. The following lab tests and imaging techniques can
be used to diagnose SWS. Lab Tests: Cerebrospinal Fluid Analysis may show elevated
protein levels. It is thought that protein may be elevated because of microhemorrhage
that may occur within the brain.[9] Imaging: Radiographs of the skull may show "tram-
track" calcification. These calcifications are located between the arachnoid and the pia
mater. The follow the pattern of the gyri in a curvilinear and parallel pattern. The
calcifications are predominately seen in the parietal and occipital lobes. In more severe
cases, the frontal lobe may also be involved and the calcifications may be seen
bilaterally.[10] Califications are not present initially and will not be seen on early
radiographs. For this reason, plain radiographs are no longer used to diagnose the
disease but rather to determine the severity and progression of the disease.[9]
Angiography will illustrate the abnormal vasculature associated with SWS. Most
abnormalities are seen within the venous system.[9] CT Scan will show early
calcification in infants. Other abnormal findings on CT scans may also include brain
atrophy secondary to a lack of normal blood flow, choroid plexus enlargement due to
the inability to aquately transport CSF, and a breakdown of the blood-brain barrier
during seizures.[9] MRI will allow for early diagnosis of SWS because the images will
show the formation of the angioma and early venous abnormalities. MRI may also
show increased myelination in the area of the angioma, an enlarged choroid plexus,
atrophy of cortical tissue (predominately white matter), and abormalties in the
corticospinal tracts when hemiparesis is present.[9] Single-photon Emission Commuted
Tomography (SPECT) measures cerebral blood flow and will demonstrate a lack of
adequate blood flow in the area of the angioma. Underperfusion of the cortex is one of
the earliest signs of SWS. It is typically present before calcification develops or the
onset of seizures. SPECT will also illustrate areas of ischemia within the cortex during
seizures.[9] Positron Emission Tomography (PET) will identify metabolic abnormalities
within the affected hemisphere.[9] Other Tests: Electroencephalogram (EEG) is used to
measure electrical activity of the brain through the use of surface electrodes placed on
the scalp.[11] In the presence of SWS, EEG findings typically include less electrical
current on the affected side. The difference in electrical activity between the affected
and unaffected side can be useful in determining the severity of disease. When multiple
tests are performed over time, progression of the disease can also be evaluated.[12]
Transcranial Doppler Ultrasonagraphy is used to evaluate cortical blood flow.
Decreased blood flow velocity is often found in the middle and posterior cerebral
arteries in chilldren with SWS. This may explain the hypoperfusion associated with the
disorder.[9] Etiology/Causes[edit | edit source] Though it is not believed to be
hereditary in nature, this is a congenital disease which develops in utero and manifests
at birth. Because of the lack of knowledge surrounding its cause, prevention of this
syndrome is impossible.[13] Systemic Involvement[edit | edit source] Sturge-
Weber Syndrome does not typically present with impairments or abnormalities in
systems outside of the following five. Integumentary The signiture sign of SWS is a port
wine stain that presents unilaterally in the face of the majority of patients. This mark is
caused by swollen blood vessels that cause the skin to become pinkish-purple color.
In most patients, the mark covers the forehead and eyelid but can sometimes extend
into the rest of the face, even crossing midline to become bilateral. It is estimated that
96% of SWS patients have some kind of port wine stain.[14] This is a sign that is
immediately noticeable at birth and can darken over time. While it is uncommon, the
facial port wine stain can also fade over time to the point where it can no longer be seen.
It is important to note that while this is a common sign of SWS, the existance of a port
wine stain does not mean an individual will have this syndrome. These markings can
exist outside of a SWS diagnosis. Swelling of the lips, throat, and gums can become a
problem due to the port wine stain. This swelling can cause the patient to experience
issues with tooth decay and bleeding of the gums.[14][15] Neurological Venous
Angiomatosis is almost always present meaning these patients develop angiomas within
the venous capillaries of the meninges. The occipital and parietal lobes of the
hemisphere ipsilateral to the facial port-wine stain are most commonly involved
although it is not impossible for angiomatosis to also occur bilaterally as well as
advance to the frontal and temporal lobes as the patient ages and the disease
progresses[14][16] Damage to the cerebral cortex due to the angiomas and associated
tissue calcification of brain is believed to be linked with seizure activity which is one of
the most common neurological features of SWS patients. These seizures can be focal or
generalized affecting approximately 85% of people living with this diagnosis.
Convulsions generally present on the side of the body opposite the facial port wine
stain. It is critical that individuals be diagnosed as early as possible in order to treat
these seizures with the appropriate medical intervention; if left undiagnosed and
untreated these seizures can cause permanent damage to the soft tissues of the brain
resulting in further deficits. Mental Retardation is common in individuals with SWS.
Mental delay becomes more significant when seizure activity is noted within the first
year of life and is likely to continue to advance in severity if seizure treatment is not
sought or is resisted.[14][15] Neuromuscular Due to atrophy of the cortical areas in the
hemisphere of the brain ipsilateral to the facial port wine stain, these individuals can
experience muscle weakness and even hemiparesis contralateral to the facial mark.
Hemiparesis most commonly occurs when an individual has a series of seizures or
seizures of increased intensity. Muscular weakness can be intermittant but is often
progressive with the progression depending on the amount of cortical atrophy present
in the brain.[17] Occular Glaucoma is a problem that can effect these individuals at any
point in their lives. It can be present at birth or later in life and is likely to lead to vision
changes due to damage of the optic nerve. If severe enough blindness can occur. [15]
[14] A child with Sturge-Weber syndrome that primarily affects the distribution of
cranial nerve V2-3, with milder involvement of cranial nerve V1. Secondary glaucoma is
evident. Ocular melanocytosis involving the sclera of both eyes is an associated finding.
Image courtesy of Dr. Lamia Salah Elewa. Endocrine Involvement of brain structures
controlling hormone regulation is possible in patients with SWS, however problems
associated with these structures are much more rare than involvement of more
superficial cortical structures. If a patient does present with deficits in his or her
endocrine system, he or she can have difficulty with regulation of growth hormone,
thyroid hormone, cortisol, estrogen, testosterone, or anti-diuretic hormone. It is
possible that these regulatory and/or production impairments can be resolved or
improved through hormone-replacement therapies.[18] Medical Management (current
best evidence)[edit | edit source] Because the presentation of SWS can vary greatly
between children, medical treatment is based upon the symptoms of each child. The
medical treatments available for the various aspects of SWS are addressed below.
Treatment of Port Wine Stain Laser treatment is used to reduce port wine stains in
children with SWS. Multiple treatments given over a period of several months is
effective in decreasing the prominence of port wine stains. Most often a Flashlamp-
Pulsed Tunable Dye Laser is used to target the abnormal vascular structure beneath the
skin.[18] This type of laser has been effective reducing port wine stains in children of all
ages and over all areas of the face. Children under the age of 7 and port wine stains over
bony prominences typically require fewer treatments than those in older children or
over the fleshy part of the cheek. In most cases, affected skin is identical in color and
texture to adjacent skin after treatment. A small percentage of individuals may have
resulting hyperpigmentation or small depressed scars over the area of the port wine
stain post-treatment.[19] Treatment of Headaches Headaches are typically treated with
medication if they interfere with daily activities of the child. Headaches may also occur
in accordance with seizures. In this case, it is important to treat the seizure the relieve
the headache pain.[18] Treatment of Epilepsy In most cases, antiepileptic drugs are
effective in treating seizures. In more severe cases of SWS, children may experience
uncontrolled and life threatening seizures despite medication. These children may
require surgery to remove the areas of brain tissue responsible for the epilepsy.[18]
Surgical options include a complete hemispherectomy or a focal resection -
determination of most appropriate surgical option is based upon the amount and
location of epileptic tissue. The age of the child at time of surgery does not effect the
reduction in seizure activity, however, surgery at an early age may porduce more
developmental gains than surgery at a later age.[20] Treatment of Glaucoma
Medications and/or eye drops are prescribed to promote normal intra-ocular pressure
in the affected eye(s) to prevent optic nerve damage. There are several types of
medications that may be prescribed to either decrease the amount of aqueous fluid that
is produced or promote drainage of the fluid out of the eye. The specific drugs are
addressed in the section labeled "Medications." If use of the medications fails to result
in maintainence of normal intra-ocular pressure, surgery may be required.[18]
[21] Much like pharmacological interventions, the goal of surgery is to either decrease
the production of fluid in the eye or increase the outflow of fluid from the eye. Several
different surgical procedures may be used to correct glaucoma in children with Sturge
Weber Syndrome. These include goniotomy, trabeculotomy, trabeculectomy, tube-
shunt, and cyclodestructive procedures. Both the goniotomy and trabeculotomy are
used to correct the anatomical abnormalties that may be associated with glaucoma. In
both procedures, an opening is created in the trabecular meshwork of the eye so that
fluid may drain normally. Goniotomy is performed from the interior apect of the eye
and requires the presence of a clear cornea, while trabeculotomy is performed from the
exterior surface and may be completed even if the individual presents with an abnormal
cornea. Both procedures have demonstrated equal effectiveness in the treatment
of glaucoma associated with SWS. The goal of a trabeculectomy is to create an
alternative pathway for fluid to leave the eye. An opening is created under the
conjunctiva that allows fulid to move away from the eye. This surgery has a high failure
rate becuase the healing tendencies of children tend to result in closure of the new
opening. In the case of failure, a tube-shunt may be placed in the eye that leads to
reservoir under the conjunctiva where fluid can be dispersed. If the aforementioned
procedures are unsuccessful, surgery may be performed to decrease the production of
fluid within the eye. These are know as cyclodestructive porcedures in which the ciliary
body is either frozen or rendered ineffective with laser treatment and a decrease in the
production of aqueous fluid results.[22] Physical Therapy Management (Current
Best Evidence)[edit | edit source] The majority of physical therapy intervention for SWS
is focused on impairments associated with hemiparesis and muscle weakness. Physical
therapy consultations are most often sought during childhood before the patient has full
speech and ambulation ability.[23] Treatment of various impairments are most
commonly targeted utilizing the following techniques. Muscle Strengthening/Resistive
exercise is utilized in the treatment of SWS to reduce the weakness caused by atrophy in
the cortical areas of the brain. Orthosis education/spasticity management can
sometimes be required for those who have spasticity associated with their diagnosis.
Due to the fact that most neurological involvement associated with SWS is localized
primarily to the cortical regions of the brain, spasticity is not commonly seen is these
patients.[23] CIMT (constraint-induced movement therapy) is a treatment option which
involves restricting the motion of one extremity in order to promote the use of the
contralateral extremity. This can be a useful technique for more severe cases of SWS
that involve hemiparesis. It is rare that CIMT is used in the adult population living with
SWS; CIMT is, instead, used during childhood to promote use of the involved
extremities and prevent neglect. Parameters for the use of CIMT intervention vary with
some patients responding well to one round of treatment and others requiring multiple
rounds of CIMT treatment to produce results.[23] CIMT treatment is not used in all
SWS patients with hemiparesis, particularly if other treatment methods have proven
effective in promoting acheivement of the same goals targeted by CIMT.
Alternative/Holistic Management (current best evidence)[edit | edit source] Medicinal
Marijuana (cannabis oil) is often prescribed to patients who suffer
from neurological issues and to those who battle glaucoma on a regular basis.
Marijuana has the potential to present less adverse affects when compared to
more mainstream medications, but must be administered judiciously as they can effect
heart rate and blood pressure almost immediately upon use.[24] Marijuana has been
found to have a positive affect on reducing intraoccular pressure within the eye, which
is generally increased in patients with glaucoma. As for the treatment of seizures, it
is inconclusive if marijuana can be an effective alternative to more traditional anti-
seizure medications. Many patients have found relief through the use of marijuana but
it remains unclear if this alternative medication has widespread seizure use or can only
target specific seizure types such as partial or tonic-clonic.[24] The use of medicinal
marijuana remains a controversial issue and is often only prescribed as a last resort.
The exact scientific reason for its effects are not currently known which adds to its
controversy. Differential Diagnosis[edit | edit source] 1. Klippel-Trenaunay-Weber
syndrome consists of port wine stains in both the extremities and the face, as well as,
hypertrophy of bone and soft tissue along with the clinical manifestations of Sturge-
Weber syndrome. The formation of solid visceral tumors primarily the kidney, adrenal
gland, or liver helps to differentiate Klippel-Trenaunay-Weber syndrome from Sturge-
Weber syndrome.[25] 2. Beckwith-Wiedemann syndrome consists of facial port wine
stain and a number of other visceral symptoms which is useful in distinguishing this
disorder from Sturge-Weber syndrome.[25] 3. Dyke-Davidoff-Masson syndrome exists
when significant atrophy is occurs in one hemispere during infancy. It may be difficult
to differentiate between this disorder and Sturge-Weber syndrome in the absence of a
clearly defined port wine stain.[25] 4. Siderosis also results in atrophy of one cerebral
hemisphere that is similar to that seen in Sturge-Weber syndrome. Imaging studies
(MRI with contrast) that outline cerebral vasculature will be necessary to differentiate
between the disorders. MRI will show normal vascular structures with siderosis while
abnormal results with be seen with SWS.[25] Case Reports/ Case Studies[edit | edit
source] Sturge-Weber syndrome: a case report[26]
http://vdisk.univille.edu.br/community/depto_odontologia/get/ODONTOLOGIA/
RSBO/RSBO_v8_n4_outubro-dezembrobro2011/v8n4a16.pdf Sturge-Weber
syndrome: A case report[27] http://www.jpad.org.pk/april%20-%20june
%20%202006/12sturge-weber%20syndrome.pdf Resources [edit | edit source] The
Sturge-Weber Foundation [28] Sturge-Weber Syndrome Community [29]
Achondroplasia - Physiopedia Definition/Description Achondroplasia is a rare
congenital disease that predominantly affects the long bones of the body resulting in
rhizomelic dwarfism. Most cases are from an autosomal dominant inherited fibroblast
growth factor receptor-3 (FGFR3) gene which has been mutated.FGFR3 is expressed in
chondrocytes and mature osteoblasts, it functions to regulate bone growth[1]. "In
endochondral bone development, the mutation increases the fibroblast growth factor
receptor-3 signaling, which interferes with chondrocyte proliferation and
differentiation, adversely affecting the epiphysial (growth) plates."[2] Prevalence[edit |
edit source] Achondroplasia is the most commonly reported form of dwarfism.
According to a study performed in 2008 by Waller and colleagues, "the prevalence of
achondroplasia ranged from 0.36 to 0.60 per 10,000 live births."[3] June et al found
that "approximately 98% of patients with achondroplasia have a mutation resulting
from G-to-A substitution in the FGFR3 gene; the majority of cases result from a
sporadic, de novo mutation."[2] Almost all of the cases of achondroplasia, therefore, are
a result of a gene mutation during development in the womb. Characteristics/Clinical
Presentation[edit | edit source] The FGFR3 gene mutation leads to shortened
extremities which are often bowed in appearance especially in the lower extremities.
The individual's trunk is normal in size, however, affected persons exhibit an enlarged
skull. "Affected individuals can exhibit short stature with rhizomelic (proximal)
shortening of the arms and legs, a normal-size trunk with larger heads and frontal
bossing, limited elbow extension, bowed legs, spinal kyphosis or lordosis, and spinal
stenosis."[2] Per X-ray showing lower extremity bowing commonly seen in individuals
with achondroplasia. (nemours.org) sons with achondroplasia also exhibit decreased
growth in the vertebral bodies leading to spinal changes that can predispose the
individual to conditions affecting the spinal nerves. Other common symptoms found in
achondroplastic dwarfism include: "Abnormal" hand appearance with persistent space
between the long and ring fingers Bowed legs Decreased muscle tone The
disproportionately large head-to-body size difference Prominent forehead (frontal
bossing) Shortened arms and legs (especially the upper arm and thigh) Short stature
(significantly below the average height for a person of the same age and sex) Spinal
stenosis Spine curvatures called kyphosis and lordosis."[4] Radiographic Features[edit |
edit source] Trident hand Frontal bossing posterior vertebral scalloping Trident pelvis
Metaphyseal flaring Associated Co-morbidities[edit | edit source] Clubbed feet
Hydrocephalus[4] Otitis media may lead to conductive hearing loss Adenotonsillar
hypertrophy which when combined predisposes the individual to upper airway
obstruction[5] Medications[edit | edit source] Although there have been no studies that
support its use long term, growth hormone has been used in some individuals to
promote growth and therefore increase the person's height. The theory behind this
hormone therapy is that growth hormone "stimulates the growth of linear bone, skeletal
muscle, and organs."[6] Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
There are diagnostic tests that may be performed both before and after the birth of the
individual suspected to suffer from achondroplasia. Prenatal ultrasound of an infant
may show signs of excessive amniotic fluid in the womb in cases of achondroplasia.
After the infant is born, the front-to-back head size of the newborn is increased when
compared to non-affected newborns. The child may also show signs of hydrocephalus.
X-rays of the infant may also be used to diagnose achondroplasia as the long bones
show changes from those x-rays of non-affected infants.[7] Etiology/Causes[edit | edit
source] Achondroplasia is most commonly the result of a genetic anomaly from the
fibroblast growth factor receptor-3 (FGFR3) gene. The gene is responsible for inhibiting
osteoblasts, and in individuals with achondroplasia, this mutation affects the epiphysial
growth plates during development. "In endochondral bone development, the mutation
increases the fibroblast FGFR3 gene mutation is the most common cause of
achondroplasia. (passionfilms.com.mx) growth factor receptor-3 signaling, which
interferes with chondrocyte proliferation and differentiation, adversely affecting the
epiphysial (growth) plates." [2] Some studies have also looked at the effect of the
parents' age and the increased prevalence of achondroplasia. "In Texas, fathers that
were 25-29, 30-34, 35-39, and greater than or equal to 40 years of age had significantly
increased rates of de novo achondroplasia among their offspring compared with
younger fathers." [3] Systemic Involvement[edit | edit source] Due to the significant
involvement of the musculoskeletal system with achondroplasia, many individuals with
the condition suffer from various skeletal issues such as degenerative joint disease,
osteoarthritis, excessive wear of cartilaginous surfaces, etc. Some of the more common
complications that a person with achondroplasia may need treatment for are listed
below. These and many other complications, including cardiopulmonary issues, can
occur secondary to the dysplastic changes that occur with achondroplasia. Foramen
magnum stenosis which may lead to cervicomedullary compression and central apneas
Lumbar spinal stenosis can lead to neurologic deficits such as claudication and
incontinence Thoracic deformities may cause restrictive lung disease[8] Medical
Management[edit | edit source] There are no direct medical treatments for
achondroplasia. However, there are many medical treatments for other disorders that
may develop as a direct or indirect result of achondroplasia. Because otitis media is a
commonly associated condition, medical management will likely be taken to treat it.
Screening for hearing loss should also be routinely performed for the same reason.
Upper respiratory illnesses are also typical among individuals with achondroplasia and
thus medications and other treatments may be given for the management of these
issues. The same abnormal development of the skull that predisposes the individual to
upper respiratory issues may also lead to dental issues. Therefore, persons with
achondroplasia may require the care of an orthodontist to correct malocclusions and
crowding.[9] Individuals should be routinely screened for other commonly associated
conditions so that the appropriate treatment may be provided. Such conditions include
but are not limited to spinal stenosis, degenerative joint disease, neurological changes
at the spinal root level, and osteoarthritis. Many of these conditions may need to be
treated with surgical interventions if left untreated with conservative methods for long
periods of time or if conservative treatment does not improve the patient's symptoms.
Surgical treatment for Spinal Stenosis[edit | edit source] According to Abu Al-Rub et
al., 2021, The surgical treatment for decompression to treat symptoms of spinal stenosis
in patients with achondroplasia showed consistent relief of the symptoms. The authors
did note that any delay in the treatment of the symptoms did play an important role in
the outcome of the surgical treatment.[10] Physical Therapy Management[edit | edit
source] As with the medical management of achondroplasia, there is no physical
therapy management directly for the condition. However, due to the extensive list of
possible co-morbidities, physical therapy will most likely be indicated for an individual
with achondroplasia at some point within their lifespan. Perhaps the most likely
indication for physical therapy is for the management of symptoms developed from
spinal stenosis from either the cervical or lumbar spine. Because the incidence of this
complication is quite large within the population of people with achondroplasia,
screening of neurological signs and symptoms should be included in all examinations
for this group. The dysplastic nature of this population's skeletal system makes them
predisposed to a number of degenerative disorders for which physical therapy
management can be of use. Individuals with achondroplasia may be referred to as
physical therapy with osteoarthritis and degenerative joint disease. As a result of these
progressive conditions, individuals may have undergone a surgical procedure such as
spinal fusion or joint replacement. Physical therapy may be involved before surgery as a
conservative treatment to help reduce pain, strengthen the patient's musculature, and
maybe eliminate the need for surgery altogether. Post-operatively physical therapy can
be used to rehabilitate patients back to their pre-morbid status. Another important role
that physical therapy can play in the role of the lives of persons with achondroplasia is
in prevention. Physical therapy can help to prevent the "wear and tear" on individuals
with achondroplasia by teaching them compensatory motions, energy-saving methods,
and more efficient ways of performing their daily tasks. Physical therapy can also help
these individuals and their families to make modifications around the home to make
their daily tasks easier and perhaps decrease their risk of some of the degenerative
changes so commonly found in this population. Alternative/Holistic Management[edit |
edit source] The use of growth hormone to help promote growth in individuals with
achondroplasia is perhaps the most common alternative/holistic management
technique currently being used. Because there are various complications and co-
morbidities which can develop from achondroplasia, there too are many holistic
treatments that can be applied to someone with these conditions. nydailynews.com
There are also many support groups that can help with the various issues that a person
with achondroplasia may face. Some of these groups are online, some meet in person,
and some even hold national conferences every year. The links below are just a few
examples of some support groups for achondroplasia and other forms of dwarfism.
staff.jccc.edu/pdecell/heverman/support%20groups.htm
www.shortsupport.org/Health/Dwarfism.html
www.dailystrength.org/c/Achondroplasia-Dwarfism/support-group Differential
Diagnosis[edit | edit source] Conditions that may be confused with achondroplasia
include achondrogenesis; chondroectodermal dysplasia; asphyxiating thoracic
dystrophy; osteogenesis imperfecta; congenital hypophosphatasia; metatrophic
dysplasia; Roberts syndrome; diastrophic dysplasia; short rib-polydactyly syndrome
types I, II, and III; spondyloepiphyseal dysplasia congenita (campomelic dysplasia);
thanatophoric dysplasia; fibrochondrogenesis; chondrodysplasia punctate (rhizomelic
type); Kniest dysplasia; mesomelic and acromesomelic dysplasia; hypochondroplasia;
pseudoachondroplasia; and double heterozygosity in bone growth disorders.[7]
milesforbabies.org Some other differential diagnoses which may be considered when
working with an individual with achondroplasia: Rickets Osteomalacia Bruck syndrome
Juvenile Paget Disease[11] Case Reports/Case Studies[edit | edit source]
www.gwumc.edu/edu/obgyn/genetics/casestudies/Achondroplasia.pdf (case study)
www.roneurosurgery.eu/atdoc/9IliescuBSevereSpinal.pdf (case report on severe spinal
stenosis) Resources[edit | edit source] Support groups for achondroplasia and other
forms of dwarfism: www.lpaonline.org/mc/page.do
www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002544/
www.nemours.org/service/medical/orthopedics/dysplasia/achondroplasia/
characteristic.html www.mayoclinic.com/health/dwarfism/DS01012

References

see adding references tutorial .

1. ↑ Jump up to:1.0 1.1 Goodman C, Snyder T. Differential Diagnosis for Physical

Therapists: Screening for Referral. 5th ed. St. Louis, Mo.:
Saunders/Elsevier; 2013. Pg. 521.
2. ↑ Jump up to:2.0 2.1 2.2 Radiopedia Chondrosarcoma
Available:https://radiopaedia.org/articles/chondrosarcoma (accessed
12.9.2022)
3. ↑ Jump up to:3.0 3.1 Ferrer-Santacreu E, Ortiz-Cruz E, Díaz-Almirón M, Pozo
Kreilinger J. Enchondroma versus Chondrosarcoma in Long Bones of
Appendicular Skeleton: Clinical and Radiological Criteria—A Follow-
Up. Journal Of Oncology [serial on the Internet]. (2016, Feb 23), [cited
April 10, 2016]; 1-10. Available from: Academic Search Complete
4. ↑ WebMD What Is Chondrosarcoma?
Available:https://www.webmd.com/cancer/what-is-chondrosarcoma
(accessed 12.9.2022)
5. ↑ Treating specific bone cancers [Internet]. Cancer.org. 2016 [cited 10
April 2016]. Available
from: http://www.cancer.org/cancer/bonecancer/detailedguide/bone-
cancer-treating-treating-specific-bone-cancers
6. ↑ What is bone cancer? [Internet]. Cancer.org. 2016 [cited 10 April
2016]. Available
from: http://www.cancer.org/cancer/bonecancer/detailedguide/bone-
cancer-what-is-bone-cancer
7. ↑ Heick J, Bustillo K, Farris J. Recognition of signs and symptoms of a
Type 1 chondrosarcoma: a case report. Physiotherapy Theory & Practice
[serial on the Internet]. (2014, Jan), [cited April 10, 2016]; 30(1): 49-55.
Available from: Academic Search Complete

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