Pott disease

Tuberculosis of the spine in an Egyptian mummy

Pott disease is a presentation of extrapulmonary tuberculosis that affects the spine, a kind of
tuberculous arthritis of the intervertebral joints. It is named after Percivall Pott (1714-1788), a
London surgeon. Scientifically, it is called tuberculous spondylitis and it is most commonly
localized in the thoracic portion of the spine.

Signs and symptoms

 back pain
 fever
 night sweating
 anorexia
 weight loss
 Spinal mass, sometimes associated with numbness, tingling, or muscle weakness of the
legs

Diagnosis
  blood tests - elevated erythrocyte sedimentation rate
 tuberculin skin test
 radiographs of the spine
 bone scan
 CT of the spine
 bone biopsy
 MRI

Late complications
 Vertebral collapse resulting in kyphosis
 Spinal cord compression
 sinus formation
 paraplegia (so called Pott's paraplegia)

Prevention
Controlling the spread of tuberculosis infection can prevent tuberculous spondylitis and arthritis.
Patients who have a positive PPD test (but not active tuberculosis) may decrease their risk by
properly taking medicines to prevent tuberculosis. To effectively treat tuberculosis, it is crucial
that patients take their medications exactly as prescribed.

Therapy
 non-operative - antituberculous drugs
 analgesics
 immobilization of the spine region by rod (Hull)
 Surgery may be necessary, especially to drain spinal abscesses or to stabilize the spine
 Richards intramedullary hip screw - facilitating for bone healing
 Kuntcher Nail - intramedullary rod
 Austin Moore - intrameduallary rod (for Hemiarthroplasty)

Cultural references
The fictional Hunchback of Notre Dame had a gibbous deformity (humpback) that is thought to
have been caused by tuberculosis. In Henrik Ibsen's play "A Doll's House," Dr. Rank suffers
from "consumption of the spine." Furthermore, Jocelin, the Dean who wanted a spire on his
cathedral in William Golding's "The Spire" probably suffered and died as a result of this disease.
The 18th-century English poet Alexander Pope suffered from Pott's disease. Chick Webb, swing
era drummer and band leader, was afflicted with tuberculosis of the spine as a child, which left
him hunchbacked. Morton, the railroad magnate in Once Upon a Time in the West, suffers from
the disease and needs crutches to walk.
Paget's disease
  

Paget’s disease of the bone is the most common form of bone inflammation, or osteitis. The
bones become weakened, soft and abnormally enlarged. Any part of the skeleton can be affected,
but the most common sites include the skull, spine, pelvis, thigh bone, shin and the bone of the
upper arm.

Paget’s disease tends to affect people over the age of 40 years, with around three per cent of this
age group affected. The rate increases to about 10 per cent in people over 80 years of age. Men
are more commonly affected than women.

The cause of Paget’s disease is not yet fully understood. Some theories suggest people with a
genetic predisposition to the disorder may become infected with an unidentified virus, which
then triggers the bone abnormalities.

Paget’s disease of the bone is often confused with an unrelated skin disease that also bears
Paget’s name and is usually associated with an underlying cancer.

Bone growth mysteriously accelerates

Healthy bone tissue is maintained by cells called osteoblasts and osteoclasts. The osteoblasts
build new bone, while the osteoclasts help to dispose of old bone.

In a person with Paget’s disease, the balance between these two groups of cells is disturbed. The
osteoblasts become overactive and too much bone tissue is produced, leading to enlargement.
The abnormal growth means that the new bone tissue is weak and unstable.

The reason for this accelerated bone growth is unknown. Genetic and environmental factors are
suspected. It appears that an unidentified virus may trigger the disease in those people with a
family history.

Risk factors
The cause of Paget’s disease is unknown, but the risk factors seem to include:

 Race - people of Anglo-Celtic background are more likely to develop the disorder, particularly
those living in Britain, Australia and Germany.
 Age - the disorder becomes more common with increasing age.
 Genetics - there is a family history in up to 30 per cent of cases.

There may be no symptoms

In 95 per cent of cases, a person with Paget’s disease presents no symptoms. In other cases, the
symptoms may develop gradually over a long period of time or may quickly become severe and
debilitating. Pain is often caused by the enlarged bone putting pressure on surrounding nerves.
Symptoms may include:

 Stiffness in the joints

 Constant fatigue
 Painful aching in the bones
 Aches and pains becoming more acute during the night
 The bone appears bent or thickened
 The affected site is significantly warmer than the rest of the body
 Bowing of the leg bones (if the legs are affected)
 Headache and increased head size if the skull is involved
 Bone fractures.

Possible complications
Paget’s disease can lead to further complications, including:

 Osteoarthritis - a form of arthritis that can occur in joints nearby to bones affected by Paget’s
disease.
 Broken bones – bones that tend to break of their own accord.
 Deafness - caused by pressure on the auditory nerves.
 Disorders of the inner ear - such as tinnitus (ringing in the ears) or vertigo.
 Numbness or paralysis - caused by deteriorating vertebrae pinching the nerves in the spinal
cord.
 Increased workload on the heart - due to an increased number of blood vessels in the affected
bones, leading to increased blood flow through the bones. This usually does not result in heart
failure except in some people who already have heart disease.
 Cancer of the affected bone tissue - occurs in about one per cent of cases.

Diagnosis is often accidental

Paget’s disease is often discovered by accident during x-rays taken for some other reason. The diagnosis
can be confirmed by further x-rays, bone scans or by a particular blood test that checks for an enzyme
crucial to bone growth, called alkaline phosphatase.

Treatment
There is no cure for Paget’s disease. There are treatments available to ease some of the symptoms.
Treatment options include:

 Drugs acting on the bones - such as bisphosphonates and calcitonin (used rarely), to slow the
progression of the disorder.
 Aspirin and non-steroidal anti-inflammatory drugs (NSAIDs) - to alleviate pain.
 Calcium and vitamin D – a diet rich in calcium, safe levels of sun exposure to ensure adequate
vitamin D levels or supplements of both may be prescribed for overall bone health. It is best to
discuss your calcium and vitamin D requirements with your doctor; high amounts of calcium in
the blood are common in Paget’s disease and need to be carefully monitored to avoid causing
other medical problems.
  Surgery - to relieve pinched nerves or bone fractures, or to replace a joint severely affected by
arthritis.
 Exercise - to maintain skeletal health and maintain mobility in the joints and strength in the
surrounding muscles. However, as bones are weaker and more likely to fracture, certain forms
of exercise will be inappropriate for those with Paget’s disease. It is best to consult a
physiotherapist for an individually prescribed exercise program.

Paget’s can also be a skin disease

Paget’s name is also given to a skin disease. Paget’s disease of nipple, breast, armpit or anal or genital
areas is a skin disease. It is usually associated with an underlying cancer.

The symptoms include redness and crusting of the skin, and may be similar to dermatitis or eczema.
Diagnosis of Paget’s disease of the skin may require a biopsy. Treatment may include surgery, radiation
therapy or chemotherapy.

Where to get help

 Your doctor
 Endocrinologist – specialist in hormonal and metabolism disorders
 Rheumatologist – specialist in joint and muscle disorders

Things to remember

 Paget’s disease of the bone causes the abnormal enlargement and weakening of bone.
 Commonly affected sites include the skull, pelvis, spine and the long bones of the arm and thigh.
 The cause is not fully understood.
 Paget’s disease of the bone should not be confused with an unrelated skin disease that also
bears Paget’s name
Fibrous dysplasia
Fibrous dysplasia is a condition that causes abnormal growth or swelling of bone. The affected
bone becomes enlarged, brittle and warped. Fibrous dysplasia can occur in any part of the
skeleton but the bones of the skull and face, thigh, shin, ribs, upper arm and pelvis are most
commonly affected.

This rare disorder is usually diagnosed in childhood or early adulthood and can affect one or
several bones. Males and females of any race are equally affected.

Fibrous dysplasia is not a form of cancer and does not increase a person’s susceptibility to
cancer. In some cases, hormone problems and changes in skin colour also occur. Fibrous
dysplasia is incurable but can be managed with medical treatment.

Symptoms
In some cases, fibrous dysplasia has no symptoms and is only diagnosed by accident during
investigations for an unrelated medical problem. When symptoms occur, they can include:

 Unusual gait – for example, ‘waddling’ or rocking from side to side when walking
 Pain – caused by the expansion of bone or the pressure of the expanding bone against a
nerve
 Irregular bone growth
 Bone deformity
 Increased susceptibility to bone fractures.

Possible complications
Fibrous dysplasia can cause a range of complications:

 Rickets may develop in some cases.

 Affected pelvis and leg bones increase the risk of arthritis developing in the hip and knee
joints.
 Eyesight problems or other sensory problems may develop if the bones of the skull are
affected.

Different types of fibrous dysplasia

The main types of fibrous dysplasia include:

 Monostotic fibrous dysplasia – only one bone is affected. This accounts for about seven
cases out of every 10. The most commonly affected site in monostotic fibrous dysplasia
is the skull.
 Polyostotic fibrous dysplasia – two or more bones are affected.
  McCune-Albright syndrome – fibrous dysplasia can be associated with hormone
disturbances and skin pigment changes. About one case of fibrous dysplasia in every 10
is diagnosed as McCune-Albright syndrome.

McCune-Albright syndrome
Some people with fibrous dysplasia have hormone problems and changes in skin colour. This is
known as McCune-Albright syndrome. Generally, people who have fibrous dysplasia in more
than one bone are at increased risk of developing McCune-Albright syndrome. Symptoms may
include:

 Onset of puberty before 10 years of age

 Overactive pituitary gland, which could lead to abnormal height
 Overactive thyroid gland (hyperthyroidism)
 Overactive parathyroid gland, which leads to excessive levels of blood calcium and can
cause persistent nausea and vomiting
 Darkened spots on the skin (café-au-lait spots).

The cause of fibrous dysplasia is unknown

The cause seems to be a genetic mutation that alters the normal growth of the bone’s connective
tissue. It is not clear whether the gene responsible for the condition is inherited. Some
researchers believe that the gene mutates after conception while the baby is developing in the
womb. The possible causes of the mutation are not known.

Diagnosis methods
Sometimes, the symptoms of fibrous dysplasia mimic the symptoms of other conditions. For
example, fibrous dysplasia of the vertebrae (backbones) may be misdiagnosed as idiopathic
scoliosis. Fibrous dysplasia is diagnosed using a number of tests, including:

 Medical history
 Physical examination
 Blood tests
 X-ray examinations
 CT scan
 Bone biopsy (a small sample of bone is collected for examination in a laboratory).

Treatment team
Treatment depends on the patient’s age, general health and severity of the condition. Specialist
doctors may include:

 Orthopaedic surgeon – to treat bone problems.

 Plastic surgeon – to treat facial deformities.
 Neurosurgeon – to treat complications of the central nervous system (brain and spinal
cord).
 Endocrinologist – to treat hormone imbalances in the case of McCune-Albright
syndrome.
Treatment options
Treatment may include:

 Treatment to reduce the risk of complications such as rickets or fractures

 Medication to strengthen bones (such as drugs commonly used in the treatment of
osteoporosis)
 Medication to treat pain, hormone imbalances and other problems
 Pain management therapy
 Physiotherapy to improve joint mobility
 Surgery to correct bone deformities.

Surgery options
Surgery is recommended in the case of painful or fractured bones or when joints can no longer
move freely. Fibrous dysplasia that causes complications such as pressure against the brain,
spinal cord or nerves is also treated with surgery.

Usually, the section of diseased bone is removed. The remaining bone is strengthened with grafts
of healthy bone tissue taken from other unaffected areas of the skeleton. In some cases, pins,
rods and other permanent devices may be inserted to further bolster the bone.

Surgery may successfully treat the condition if only one bone is affected. If several bones are
affected, it may not be possible to remove every section of diseased tissue.

Exercise is important
Regular weight bearing exercise helps to strengthen bone, increase joint mobility and maintain a
healthy weight. It is important that the exercise program is performed under the supervision of a
doctor because a person with fibrous dysplasia is at increased risk of bone fractures.