Bone Diseases

Paget’s disease
Infections of bone
Neoplastic disease
Skeletal dysplasia
Paget’s Disease
Also called as Osteitis Deformans
disorder of bone remodeling
Male to female ratio is 2:3
Age above 40 years
Paget's disease is the second most common type of
bone disease after osteoporosis.
It is a disorder of the bone remodeling process, in
which the body absorbs old bone and forms abnormal
new bone.
Bone is an active living tissue that is constantly being
renewed through a process known as remodelling.
Cells called osteoclasts break down old, damaged
bone to make way for new bone laid down by cells
called osteoblasts.
Over time, this bone is mineralised, forming a hard
and strong skeleton.
Under normal circumstances, the amount of bone
removed is balanced by the amount of bone laid down.
In Paget’s disease, the processes of bone resorption
and bone formation are markedly increased.
The osteoclasts are larger than normal and break
down bone faster than normal.
 The osteoblasts respond to this by depositing new
bone at an increased rate.
This dysregulation of bone turnover in Paget’s disease
results in abnormalities of the bone structure,
weakening of the bone and enlargement or deformity
of the affected bones
Causes:
 The exact cause of Paget's disease is unknown but it
may be caused by genetic factors or a viral infection
in your bone cells that may be present for many years
before any problem becomes evident.
You are more susceptible to this disease if it runs in
your family.
Older people above the age of forty and men are more
at risk of suffering from this disease.
Symptoms
Most people with this disorder rarely experience any
symptoms.
 The most common symptoms, when they do occur,
include:
Bone pain, joint pain and stiffness(Pelvis, lumber
spine, femur, thoracic spine, sacrum, skull, tibia)
Fractures
Pain, tingling and numbness in arms and legs due to
compressed nerve roots of an affected spine
Complications
Deformity: Paget’s disease can cause bone to become
enlarged. May cause the weight-bearing bones of the leg to
develop a bowing deformity.
Deafness: If the skull is involved, hearing loss can occur.
Fracture: There is an increased risk of fracture,
particularly in the long bones of the arm and leg. Fractures
may initially be incomplete, (stress fractures or fissure
fractures), which are at high risk of complete fracture.
Fissure fractures predominantly, but not exclusively, affect
weight-bearing bones, such as the thigh bone (femur).
Neurological complications: Neurological
complications can occur, often because of bony
overgrowth leading to compression. For
example, enlargement of vertebrae in the spine
can produce pressure on nerves causing pain,
leg weakness or sciatica.
Increased vascularity: Should the bone
fracture or surgery be undertaken, active Paget’s
disease has the potential to result in excessive
blood loss. This is because blood flow increases
to areas where Paget’s disease is active.
Heart disease: Paget’s disease does not directly affect
the heart but if it is in many bones, is highly active and
uncontrolled, the heart may have to work harder to
pump extra blood to the affected bones. Whilst heart
failure due to this increased blood flow has been
reported, it is extremely rare.
Osteosarcoma: An unusual and very rare
complication of Paget’s disease is a type of bone
cancer, called osteosarcoma. This occurs in less than
1:1,000 people with the disease.
Test and diagnosis
Bone X-ray scans to look for any deformities and
thickness of the bones. In case of Paget’s disease, there
may be some bowing of your long bones and they may
be too thick.
Blood test are conducted to determine the level of
alkaline phosphatase in your blood which is
elevated in case of Paget’s disease 
Treatment
Bisphosphonates, taken orally or injected in the vein
depending on the type of drug, are the first course of
action against Paget’s disease. They make the disease
inactive by decreasing the bone remodelling.
Calcitonon, taken by a nasal spray or injection, are
prescribed if you can’t tolerate bisphosphonate.
Calcitonin is a hormone involved in bone metabolism
and it has similar benefits as bisphosphonate.

Physical Therapy and exercise can assist in
maintaining muscle strength, flexibility and joint
range of motion, increased endurance, and decrease
the chances of deconditioning .Strengthening muscles
around the joints affected and its adjacent joints can
help minimize skeletal complications of Paget's
disease
Modalities can also be beneficial such as superficial
heat, transcutaneous electrical nerve stimulation (
TENS), and massage, may be helpful for muscle pain,
tenderness, and tightness.
Physcial therapist should advise precautions, if
necessary, for example, avoid activities such as jogging,
running, jumping, and aggressive forward bending
and twisting exercises, if the spine is affected by
Paget's disease.
Infections of Bone
Osteomyelitis
Osteomyelitis is an infection of the bone, a rare but
serious condition.
 Bones can become infected in a number of ways:
Infection in one part of the body may spread through
the bloodstream into the bone, or an open fracture
or surgery may expose the bone to infection.
Symptoms
Signs and symptoms of osteomyelitis include:
Fever
Swelling, warmth and redness over the area of the
infection
Pain in the area of the infection
Fatigue
Causes:
Most cases of osteomyelitis are caused by staphylococcus bacteria,
types of germs commonly found on the skin or in the nose of even
healthy individuals.
Germs can enter a bone in a variety of ways, including:
The bloodstream. Germs in other parts of your body — for
example, in the lungs from pneumonia or in the bladder from a
urinary tract infection — can travel through your bloodstream to a
weakened spot in a bone.
Injuries. Severe puncture wounds can carry germs deep inside your
body. If such an injury becomes infected, the germs can spread into a
nearby bone. Germs can also enter the body if you have broken a bone
so severely that part of it is sticking out through your skin.
Surgery. Direct contamination with germs can occur during surgeries
to replace joints or repair fractures
Diagnosis
Blood tests
X-ray
CT scan
MRI
A bone biopsy helps determine the type of organism,
typically bacteria, causing the infection so the right
medication can be prescribed.
Treatment
Antibiotics
o Penicillin
o Clindamycin
o Metronidazole

Surgery
o Drain the infected area
o Remove diseased bone and tissue
o Amputate the limb.
Neoplastic disease
A neoplasm is an abnormal growth of cells, also
known as a tumor. Neoplastic diseases are conditions
that cause tumor growth — both benign and
malignant.
Benign tumors are noncancerous growths. They
usually grow slowly and can’t spread to other tissues.
 Malignant tumors are cancerous and can grow
slowly or quickly. Malignant tumors carry the risk of
metastasis, or spreading to multiple tissues and organs
Types
Bone tumors may be classified as "primary tumors",
which originate in bone or from bone-derived cells
and tissues, and "secondary tumors" which originate
in other sites and spread to the skeleton.
Carcinomas of the prostate, breasts, lungs, thyroid,
and kidneys are the carcinomas that most commonly
metastasize to bone. Secondary malignant bone
tumors are estimated to be 50 to 100 times as common
as primary bone cancers.
Symptoms
Pain
fatigue
fever
 weight loss
 anemia
 nausea
bone fractures
The causes of bone tumors aren't known.
 A few possible causes are genetics, radiation
treatment, and injuries to the bones.
Treatment
Analgesics and anti-inflammatory drugs
Chemotherapy and radiotherapy
Surgery
Skeletal dysplasia
Skeletal dysplasias, are a heterogeneous group of
heritable disorders characterized by abnormalities of
cartilage and bone growth, resulting in abnormal
shape and size of the skeleton and disproportion
of the long bones, spine, and head. 
Children with skeletal dysplasia often have limbs that
are too short compared with the rest of the body.
Cause
The condition is caused by defective genes that either
are inherited from a parent or mutate randomly during
fetal development. The specific defective gene
responsible for a certain skeletal dysplasia is often hard
to detect.
Types
thanatophoric dysplasia, a condition that causes your child to develop
extremely short limbs, extra folds of skin on their arms and legs, and
underdeveloped lungs
hypochondroplasia, a condition that affects the conversion of cartilage
into bone in your child’s body and results in short arms and legs, as
well as hands and feet that are short and broad
campomelic dysplasia, an often fatal condition in newborns that
causes dangerous bowing of the long bones in your child’s legs and
often their arms as well
osteogenesis imperfecta, a disorder that results in fragile bones that
break easily
achondrogenesis, a disorder that causes your child to develop short
limbs and a small body
Symptoms
Short stature or slow growth
Disproportionately large head, especially the forehead
Disproportionately short upper arms and thighs
Short or too many fingers or toes
Joint stiffness, pain or arthritis
Curved bones, especially bowlegs and scoliosis (spine
curvature)
Cleft palate or crowded teeth
Developmental delays such as late walking
Mental retardation
Treatment
Growth hormone treatment for children with
dwarfism related to growth hormone deficiency
Physical therapy to improve muscle strength and
range of motion in joints
Back braces to improve spine curvature or bowing
Other Hereditary Diseases
Osteopetrosis
Hypophosphatasia
Osteopetrosis
Osteopetrosis, literally "stone bone", also known as
marble bone disease or Albers-Schönberg disease, is
an extremely rare inherited disorder whereby the
bones harden, becoming denser, in contrast to more
prevalent conditions like osteoporosis, in which the
bones become less dense and more brittle, or
osteomalacia, in which the bones soften.
Osteopetrosis can cause bones to dissolve and break.
Normally, osteoclasts break down old bone tissue as new
bone tissue grows. For people with osteopetrosis, the
osteoclasts do not break down the old bone tissue. This
bone build up causes the bones to overgrow. In the head
and spine, this overgrowth puts pressure on nerves and
causes neurological problems. In the bones where bone
marrow usually forms, the overgrowth crowds out the
bone marrow.
There are several types of osteopetrosis: autosomal
dominant osteopetrosis, autosomal recessive
osteopetrosis, and intermediate autosomal osteopetrosis.
Hypophosphatasia
Hypophosphatasia (HPP) is a rare genetic disorder
characterized by the abnormal development of bones
and teeth. These abnormalities occur due to defective
mineralization, the process by which bones and teeth
take up minerals such as calcium and phosphorus.
Affected children may have short stature with bowed
legs or knock knees, enlarged wrist and ankle joints,
and an abnormal skull shape. Adult forms of
hypophosphatasia are characterized by a softening
of the bones known as osteomalacia. In adults,
recurrent fractures in the foot and thigh bones can
lead to chronic pain