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Meniere’s Disease

Definition:
Ménière’s disease is a disorder of the inner ear that can affect hearing and balance to a varying degree. It is characterized by episodes of vertigo — a sensation of a spinning motion — along with fluctuating hearing loss, ringing in the ear (tinnitus), and sometimes a feeling of fullness or pressure in your ear. In most cases, Meniere’s disease affects only one ear.
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People in their 40s and 50s are more likely than people in other age groups to develop Meniere’s disease, but it can occur in anyone, even children.
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Although Meniere’s disease is considered a chronic condition, there are various treatment strategies that can help relieve symptoms and minimize the disease’s long-term impact on your life.

It is named after the French physician Prosper Ménière, who, in an article published in 1861, first reported that vertigo was caused by inner ear disorders. The condition affects people differently; it can range in intensity from being a mild annoyance to a chronic, lifelong disability

Symptoms:
The symptoms of Ménière’s are variable; not all sufferers experience the same symptoms. However, so-called “classic Ménière’s” is considered to have the following four symptoms:
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*Periodic episodes of rotary vertigo or dizziness.

*Fluctuating, progressive, unilateral (in one ear) or bilateral (in both ears) hearing loss, usually in lower frequencies.

*Unilateral or bilateral tinnitus.

*A sensation of fullness or pressure in one or both ears.

Ménière’s often begins with one symptom, and gradually progresses. However, not all symptoms must be present for a doctor to make a diagnosis of the disease.  Several symptoms at once is more conclusive than different symptoms at separate times.

Attacks of rotational vertigo can be severe, incapacitating, and unpredictable and can last anywhere from minutes to hours,  but generally no longer than 24 hours. For some sufferers however, prolonged attacks can occur, lasting from several days to several weeks, often causing the sufferer to be severely incapacitated. This combines with an increase in volume of tinnitus and temporary, albeit significant, hearing loss. Hearing may improve after an attack, but often becomes progressively worse. Nausea, vomiting, and sweating sometimes accompany vertigo, but are symptoms of vertigo, and not of Ménière’s.

Some sufferers experience what are informally known as “drop attacks”—a sudden, severe attack of dizziness or vertigo that causes the sufferer, if not seated, to fall without warning. Drop attacks are likely to occur later in the disease, but can occur at any time.[10] Patients may also experience the feeling of being pushed or pulled. Some patients may find it impossible to get up for some time, until the attack passes or medication takes effect.

In addition to hearing loss, sounds can appear tinny or distorted, and patients can experience unusual sensitivity to noises.

Some sufferers also experience nystagmus, or uncontrollable rhythmical and jerky eye movements, usually in the horizontal plane, reflecting the essential role of non-visual balance in coordinating eye movements

Migraine:
There is an increased prevalence of migraine in patients with Ménière’s disease.  As well, migraine leads to a greater susceptibility of developing Ménière’s disease. The distinction between migraine-associated vertigo and Ménière’s is that migraine-associated vertigo may last for more than 24 hours

Causes:
Ménière’s disease is idiopathic, but it is believed to be linked to endolymphatic hydrops, an excess of fluid in the inner ear.

he inner ear is a cluster of connected passages and cavities called a labyrinth. The outside of the inner ear is made of bone (bony labyrinth). Inside is a soft structure of membrane (membranous labyrinth) that’s a slightly smaller, similarly shaped version of the bony labyrinth. The membranous labyrinth contains a fluid (endolymph) and is lined with hair-like sensors that respond to movement of the fluid.
…
In order for all of the sensors in the inner ear to function properly, the fluid needs to retain a certain volume, pressure and chemical composition. Factors that alter the properties of inner ear fluid may help cause Meniere’s disease. Scientists have proposed a number of potential causes or triggers, including:

*Improper fluid drainage, perhaps because of a blockage or anatomic abnormality

*Abnormal immune response

*Allergies

*Viral infection

*Genetic predisposition

*Head trauma

Because no single cause has been identified, it’s likely that Meniere’s disease is caused by a combination of factors.

Complications:
The unpredictable episodes of vertigo are usually the most debilitating problem of Meniere’s disease. The episodes often force a person to lie down for several hours and lose time from work or leisure activities, and they can cause emotional stress.

Vertigo can also increase your risk of:

*Falls

*Accidents while driving a car or operating heavy machinery

*Depression or anxiety in dealing with the disease

*Permanent hearing loss

Diagnosis:
Doctors establish a diagnosis with complaints and medical history. However, a detailed otolaryngological examination, audiometry and head MRI scan should be performed to exclude a vestibular schwannoma or superior canal dehiscence which would cause similar symptoms. There is no definitive test for Ménière’s, it is only diagnosed when all other causes have been ruled out. If any cause had been discovered, this would eliminate Ménière’s disease, as by its very definition,  as an exclusively idiopathic disease, it has no known causes.

Treatment:
Because Ménière’s cannot be cured, treatments focus more on addressing symptoms. In extreme cases, it is necessary to destroy vestibular hair cells with the antibiotic streptomycin or to remove the affected labyrinth surgically in order to relieve severe vertigo. Patients are sometimes treated by the insertion of a shunt that diverts excess endolymph directly to the cerebrospinal fluid, a procedure that is not always effective. Typical remedies to improve symptoms may include:

*Antihistamines considered antiemetics such as meclozine and dimenhydrinate

*Antiemetic drugs such as trimethobenzamide.

*Antivertigo/antianxiety drugs such as betahistine and diazepam.

*Herbal remedies such as ginger root

Coping:
Sufferers tend to have high stress and anxiety due to the unpredictable nature of the disease. Healthy ways to combat this stress can include aromatherapy, yoga, T’ai chi., and meditation.

Surgery:
If symptoms do not improve with typical treatment, more permanent surgery is considered.  Unfortunately, because the inner ear deals with both balance and hearing, few surgeries guarantee no hearing loss.

Nondestructive:
Nondestructive surgeries include those which do not actively remove any functionality, but rather aim to improve the way the ear works.

Intratympanic steroid treatments involve injecting steroids (commonly dexamethasone) into the middle ear in order to reduce inflammation and alter inner ear circulation.

Surgery to decompress the endolymphatic sac has shown to be effective for temporary relief from symptoms. Most patients see a decrease in vertigo occurrence, while their hearing may be unaffected. This treatment, however, does not address the long-term course of vertigo in Ménière’s disease.  Danish studies even link this surgery to a very strong placebo effect, and that very little difference occurred in a 9-year followup, but could not deny the efficacy of the treatment

Destructive
Destructive surgeries are irreversible, and involve removing entire functionality of most, if not all, of the affected ear.

The inner ear itself can be surgically removed via labyrinthectomy. Hearing is always completely lost in the affected ear with this operation. Alternatively, a chemical labyrinthectomy, in which a drug (such as gentamicin) that “kills” the vestibular apparatus is injected into the middle ear can accomplish the same results while retaining hearing.

Alternatively, surgeons can cut the nerve to the balance portion of the inner ear in a vestibular neurectomy. Hearing is often mostly preserved, however the surgery involves cutting open into the lining of the brain, and a hospital stay of a few days for monitoring would be required.

Vertigo (and the associated nausea and vomiting) typically accompany the recovery from destructive surgeries as the brain learns to compensate

Physiotherapy:
Physiotherapists also have a role in the management of Meniere’s disease. In vestibular rehabilitation, physiotherapists use interventions aimed at stabilizing gaze, reducing dizziness and increasing postural balance within the context of activities of daily living. After a vestibular assessment is conducted, the physiotherapist tailors the treatment plan to the needs of that specific patient.

The central nervous system (CNS) can be re-trained because of its plasticity, or alterability, as well as its repetitious pathways. During vestibular rehabilitation, physiotherapists take advantage of this characteristic of the CNS by provoking symptoms of dizziness or unsteadiness with head movements while allowing the visual, somatosensory and vestibular systems to interpret the information. This leads to a continuous decrease in symptoms.

Although a significant amount of research has been done regarding vestibular rehabilitation in other disorders, substantially less has been done specifically on Meniere’s disease. However, vestibular physiotherapy is currently accepted as part of best practices in the management of this condition

Prognosis:
Ménière’s disease usually starts confined to one ear, but it often extends to involve both ears over time. The number of patients who end up with bilaterial Ménière’s is debated, with ranges spanning from 17% to 75%.

Some Ménière’s disease sufferers, in severe cases, may end up losing their jobs, and will be on disability until the disease burns out.  However, a majority (60-80%) of sufferers will not need permanent disability and will recover with or without medical help.

Hearing loss usually fluctuates in the beginning stages and becomes more permanent in later stages, although hearing aids and cochlear implants can help remedy damage.  Tinnitus can be unpredictable, but patients usually get used to it over time.

Ménière’s disease, being unpredictable, has a variable prognosis. Attacks could come more frequently and more severely, less frequently and less severely, and anywhere in between.  However, Ménière’s is known to “burn out” when vestibular function has been destroyed to a stage where vertigo attacks cease.

Studies done on both right and left ear sufferers show that patients with their right ear affected tend to do significantly worse in cognitive performance.   General intelligence was not hindered, and it was concluded that declining performance was related to how long the patient had been suffering from the disease

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://en.wikipedia.org/wiki/M%C3%A9ni%C3%A8re’s_disease
http://www.mayoclinic.com/health/menieres-disease/DS00535

http://www.dizziness-and-balance.com/disorders/menieres/menieres.html

http://www.360balance.com/hydrops.html

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Lhermitte’s phenomenon

Alternative Name: Barber Chair phenomenon

Definition:

Lhermitte’s phenomenon  is an electrical sensation that runs down the back and into the limbs. In many patients, it is elicited by bending the head forward. It can also be evoked when a practitioner pounds on the posterior cervical spine while the neck is flexed; caused by involvement of the posterior columns

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The Lhermitte’s sign is a symptom rather than a sign as it describes a subjective sensation rather than an objective finding. To add more confusion, it is not attributed to its discoverer. It was first described by Pierre Marie and Chatelin in 1917. Jean Lhermitte did not publish his first report until 1920. However, in 1924 he did publish the seminal article on the subject which resulted in it becoming well known

It’s usually triggered by flexing the neck – that is, bending your head down, chin towards chest. The sensation is short-lived, usually no more than a second.

How often the symptom occurs, and what other symptoms develop along with it, depends on the underlying cause, of which there are several.

Causes:
L’hermitte’s phenomenon is a sign that something may be damaging the spinal cord (especially in the part of it that’s composed of white matter, at the back of the cord). This damage is usually in the neck or region of the spine known as the cervical spine. But the symptom is very non-specific and says nothing about exactly where in the spinal cord the problem is, or what is damaging it.

The most common cause is arthritis of the small joints of the vertebra in that part of the spine, also known as cervical spondylosis. This can cause abnormal pressure on the spinal cord or the nerves coming out of it.

Other causes include:

•Multiple sclerosis
•Vitamin B12 deficiency (pernicious anaemia)
•Tumours
•Compression of the discs in the cervical spine following trauma
•Radiotherapy to the neck

But in many cases a specific cause for Lhermitte’s phenomenon can’t be found.

Treatment:
It’s important that L’hermitte’s phenomenon is investigated by a specialist to pick up and treat any identifiable cause if possible, and limit or prevent further damage. But in many cases the tests (which may include X-ray of the cervical spine, MRI scans of the brain and cervical spinal cord, lumbar puncture and nerve signal tests known as visual evoked potentials) all come back negative.

When this happens, you should keep an eye on the problem and ask your doctor to repeat the tests if necessary or if symptoms worsen.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://en.wikipedia.org/wiki/Lhermitte’s_sign
http://www.bbc.co.uk/health/physical_health/conditions/lhermittes.shtml

http://www.msrc.co.uk/index.cfm/fuseaction/show/pageid/755

http://commons.wikimedia.org/wiki/File:Illu_vertebral_column.jpg

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Joubert syndrome

Alternative Names:  Cerebellar vermis agenesis or Cerebelloparenchymal disorder IV

Definition:
Joubert syndrome is a rare inherited disorder of the brain. It is a genetic birth defect in which the area of the brain that controls balance and coordination is underdeveloped.It is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis – an area of the brain that controls balance and coordination. The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), jerky eye movements (oculomotor apraxia), mental retardation, and the inability to coordinate voluntary muscle movements (ataxia).

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An area at the back of the brain which is important for balance and co-ordination, called the cerebellum normally has two interconnected halves or hemispheres. In Joubert syndrome the connection between the two halves, known as the cerebellar vermis, fails to develop properly. As a result, one of the main features of Joubert syndrome is poorly controlled or unsteady movement, known as ataxia.

The severity of the condition varies from child to child, depending on the extent of the abnormalities of the brain. Some children are only mildly affected while others (even within the same family) have severe disabilities.

It occurs in both males and females, in about one in 100,000 births. Joubert syndrome often occurs in a child with no family history of the disorder, but in some children the syndrome appears to be inherited.

Symptoms:
The symptoms of Joubert syndrome are related to the underdevelopment of an area of the brain called the cerebellar vermis, which controls balance and muscle coordination. The symptoms, which may range from mild to severe depending on how much the brain is underdeveloped, may include:

•Periods of abnormally rapid breathing (episodic hyperpnea), which may seem like panting

•jerky eye movements (nystagmus)

•characteristic facial features such as drooping eyelids (ptosis), open mouth with protruding tongue, low-set ears

•mental retardation

•difficulty coordinating voluntary muscle movements (ataxia)
Other birth defects such as extra fingers and toes (polydactyly), heart defects, or cleft lip or palate may be present. Seizures may also occur.

Causes:
Joubert syndrome is a genetic abnormality inherited in an autosomal recessive fashion. This means that if both parents are carriers, there is a 1 in 4 chance that each child will have the disease.

Diagnosis:
The most pronounced symptom in a newborn infant with Joubert syndrome is periods of abnormally rapid breathing, which may be followed by stopping breathing (apnea) for up to one minute. Although these symptoms may occur in other disorders, there are no lung problems in Joubert syndrome, which helps identify it as the cause of the abnormal breathing.

A magnetic resonance imaging (MRI) scan can look for the brain abnormalities that are present in Joubert syndrome and confirm the diagnosis.

Treatment:
There is no cure for Joubert syndrome, so treatment focuses on the symptoms such as breathing problems and to support the child’s development.. Infants with abnormal breathing may have a breathing (apnea) monitor for use at home, especially at night. Physical, occupational, and speech therapy may be helpful for some individuals. Individuals with heart defects, cleft lip or palate, or seizures may require more medical care.

Prognosis:
The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is partially developed or entirely absent. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.

Research:
The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting.

Research has revealed that a number of genetic disorders, not previously thought to be related, may indeed be related as to their root cause. Joubert syndrome is one such disease. It is a member of an emerging class of diseases called cilopathies.

The underlying cause of the ciliopathies may be a dysfunctional molecular mechanism in the primary cilia structures of the cell, organelles which are present in many cellular types throughout the human body. The cilia defects adversely affect “numerous critical developmental signaling pathways” essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases.

Currently recognized ciliopathies include Joubert syndrome, primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/joubert1.shtml
http://www.ninds.nih.gov/disorders/joubert/joubert.htm
http://www.ninds.nih.gov/disorders/joubert/joubert.htmhttp://www.ninds.nih.gov/disorders/joubert/joubert.htm

http://www.joubertfoundation.com/

http://www.health-news-blog.com/blogs/permalinks/6-2007/the-fifth-gene-responsible-for-joubert-syndrome.html

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Haemochromatosis

Definition:
Haemochromatosis is a disease caused by excess iron in the body.

Iron is needed in the diet to maintain good health, particularly for making red blood cells that carry oxygen around the body. These red blood cells contain large amounts of iron.

Lack of iron can cause anaemia, but excessive iron is toxic. The body has few ways of disposing of unwanted iron, so it builds up in tissues causing damage and disease.

Haemochromatosis – or genetic haemochromatosis (GH) – is a disorder that causes the body to absorb an excessive amount of iron from the diet.

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We can only use a limited amount of iron and any excess is deposited around the body. This accumulates mainly in the liver, but can also affect the heart, pancreas and pituitary gland, damaging these vital body organs and resulting in a deterioration of their functional capacity.

Haemochromatosis is more common in Caucasian or white populations, with about 1 in 300 to 1 in 400 affected. About half that number are affected in black populations.

Men are more likely to have hereditary haemochromatosis and suffer from it at an earlier age, as women regularly lose iron in menstruation or use stores in pregnancy.

Symptoms:
Although haemochromatosis and the potential for the condition to cause problems is present from birth, symptoms don’t usually become apparent until middle age.

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Common symptoms that might be noticed then include:

•weakness, tiredness and lack of energy
•joint pain and stiffness – particularly in the hands and fingers
•a tanned or bronzed appearance of the skin
•impotence in men
•shrinking of testicles
•weight loss
•abdominal pain
.
Later, more serious symptoms may develop including:

•diabetes
•arthritis
•heart problems
•enlargement or damage to the liver

Clinical presentation:
Organs commonly affected by haemochromatosis are the liver, heart, and endocrine glands.

Haemochromatosis may present with the following clinical syndromes:

*Cirrhosis of the liver
*Diabetes due to pancreatic islet cell failure
*Cardiomyopathy
*Arthritis (iron deposition in joints)
*Testicular failure
*Tanning of the skin

Causes:
The causes can be distinguished between primary cases (hereditary or genetically determined) and less frequent secondary cases (acquired during life). People of Celtic (Irish, Scottish, Welsh) origin have a particularly high incidence of whom about 10% are carriers of the gene and 1% sufferers from the condition.

Primary haemochromatosis:
The fact that most cases of haemochromatosis were inherited was well known for most of the 20th century, though they were incorrectly assumed to depend on a single gene. The overwhelming majority actually depend on mutations of the HFE gene discovered in 1996, but since then others have been discovered and sometimes are grouped together as “non-classical hereditary haemochromatosis”, “non-HFE related hereditary haemochromatosis”, or “non-HFE haemochromatosis

It is thought to be mainly caused by a mutation of a gene called HFE, which probably allows excess iron to be absorbed from the diet. This mutation is known as C282Y and to develop haemochromatosis you usually need two genes (one from each parent) to be C282Y.

However, not everyone with the mutation may develop the disease, and it may occur if only one C282Y gene is present.

Confusingly, another mutation labelled H63D elsewhere on the HFE gene may occur alone or with C282Y and also influence iron levels.

Other rare mutations may give rise to haemochromatosis, especially in children.

Secondary haemochromatosis:
*Severe chronic haemolysis of any cause, including intravascular haemolysis and ineffective erythropoiesis (haemolysis within the bone marrow).
*Multiple frequent blood transfusions (either whole blood or just red blood cells), which are usually needed either by individuals with hereditary anaemias (such as beta-thalassaemia major, sickle cell anaemia, and Diamond–Blackfan anaemia) or by older patients with severe acquired anaemias such as in myelodysplastic syndromes.
*Excess parenteral iron supplements, such as can acutely happen in iron poisoning
*Excess dietary iron
*Some disorders do not normally cause haemochromatosis on their own, but may do so in the presence of other predisposing factors. These include cirrhosis (especially related to alcohol abuse), steatohepatitis of any cause, porphyria cutanea tarda, prolonged haemodialysis, post-portacaval shunting.

Risk Factors:
The onset of hereditary haemochromatosis usually occurs between the ages of 30 and 60 as the build up of iron takes years.

However, a rapid form of the disease does affect children. If left untreated excess iron builds up in the organs especially the liver, heart and pancreas. This may cause heart or liver failure, which can be fatal.

Diagnosis:
There are several methods available for diagnosing and monitoring iron loading including:

*Serum ferritin
*Liver biopsy
*HFE
*MRI

Serum ferritin is a low-cost, readily available, and minimally invasive method for assessing body iron stores. However, the major problem with using it as an indicator of iron overload is that it can be elevated in a range of other medical conditions unrelated to iron levels including infection, inflammation, fever, liver disease, renal disease, and cancer. Also, total iron binding capacity may be low, but can also be normal.

The standard of practice in diagnosis of hemochromatosis was recently reviewed by Pietrangelo. Positive HFE analysis confirms the clinical diagnosis of hemochromatosis in asymptomatic individuals with blood tests showing increased iron stores, or for predictive testing of individuals with a family history of hemochromatosis. The alleles evaluated by HFE gene analysis are evident in ~80% of patients with hemochromatosis; a negative report for HFE gene does not rule out hemochromatosis. In a patient with negative HFE gene testing, elevated iron status for no other obvious reason, and family history of liver disease, additional evaluation of liver iron concentration is indicated. In this case, diagnosis of hemochromatosis is based on biochemical analysis and histologic examination of a liver biopsy. Assessment of the hepatic iron index (HII) is considered the “gold standard” for diagnosis of hemochromatosis.

MRI is emerging as an alternative to liver biopsy for measuring liver iron loading. For measuring liver iron concentrations, R2-MRI (also known as FerriScan)  has been validated and is coming into use in medical centers. It is not recommended in practice guidelines at this time

Prognosis:
A third of those untreated develop hepatocellular carcinoma.

Treatment:
Routine treatment in an otherwise-healthy person consists of regularly scheduled phlebotomies (bloodletting). When first diagnosed, the phlebotomies may be fairly frequent, perhaps as often as once a week, until iron levels can be brought to within normal range. Once iron and other markers are within the normal range, phlebotomies may be scheduled every other month or every three months depending upon the patient’s rate of iron loading.

For those unable to tolerate routine blood draws, there is a chelating agent available for use. The drug Deferoxamine binds with iron in the bloodstream and enhances its elimination via urine and faeces. Typical treatment for chronic iron overload requires subcutaneous injection over a period of 8–12 hours daily. Two newer iron chelating drugs that are licensed for use in patients receiving regular blood transfusions to treat thalassemia (and, thus, who develop iron overload as a result) are deferasirox and deferiprone.

Haemochromatosis is treated by:

•Reducing the amount of iron absorbed by the body – patients are advised to avoid iron-rich foods and alcohol.
•Removing excess iron from the body by removing blood from the body (venesection therapy or phlebotomy). Initially this may involve removing a unit of blood a week (sometimes for many months) until iron levels in the blood are normal. Then most people can be kept stable by removing a unit of blood every 2-3 months.

If phlebotomy is started before liver damage occurs the outlook is good, and the affected person can expect to live an otherwise normal life.

Acquired haemochromatosis is normally treated by a drug that binds iron and allows it to be excreted from the body.

Associated problems such as heart failure and diabetes are treated as appropriate.

Good advice:-
*Limit the amount of iron in your diet.
*Eating red or organ meats (such as liver) is not recommended.
*Iron supplements should also be avoided, including iron combined with other multivitamins.
*Vitamin C increases iron absorption from the gut and intake should also be limited.
*Avoid excess alcohol as this may make liver disease worse

Future prospects:
Your prospects largely depend on the stage at which the disease was diagnosed. Symptoms of tiredness and general weakness often improve, but joint problems may not.

Abdominal pain and liver enlargement can also lessen or disappear, and heart function may also improve with treatment.

However, liver cirrhosis is irreversible and a liver transplant may be required.

Patients with liver disease are also usually monitored for liver cancer, which can be a long-term complication.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/haemochromatosis1.shtml
http://en.wikipedia.org/wiki/Iron_overload
http://www.netdoctor.co.uk/diseases/facts/haemochromatosis.htm

https://runkle-science.wikispaces.com/Haemochromatosis

http://www.ironxs.com.au/the-symptoms-of-haemochromatosis.html

http://www.goldbamboo.com/topic-t1404-a1-6Haemochromatosis.html

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Gorlin syndrome

Alternative Names:Nevoid basal cell carcinoma syndrome (NBCCS),basal cell nevus syndrome, multiple basal cell carcinoma syndrome and Gorlin–Goltz syndrome

Definition:–
Gorlin syndrome is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancers.

You may click to see more pictures of  Gorlin syndrome

People with the syndrome have a predisposition to multiple basal cell carcinomas (a form of skin cancer), jaw cysts and other generally harmless abnormalities in the bone. The severity of the disease can be wide-ranging.

About 10% of people with the condition do not develop basal cell carcinomas (BCCs). the name Gorlin syndrome refers to researcher Robert J. Gorlin (1923–2006).

First described in 1960, NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal cell carcinoma, a malignant type of skin cancer. The prevalence is reported to be 1 case per 56,000-164,000 population. Recent work in molecular genetics has shown NBCCS to be caused by mutations in the PTCH (Patched) gene found on chromosome arm 9q. If a child inherits the defective gene from either parent, he or she will have the disorder

Incidence:–
About 750,000 new cases of sporadic basal cell carcinomas (BCCs) occur each year in the United States. Ultraviolet (UV) radiation from the sun is the main trigger of these cancers, and people with fair skin are especially at risk. Most sporadic BCCs arise in small numbers on sun-exposed skin of people over age 50, although younger people may also be affected. By comparison, NBCCS has an incidence of 1 in 50,000 to 150,000 with higher incidence in Australia. One aspect of NBCCS is that basal cell carcinomas will occur on areas of the body which are not generally exposed to sunlight, such as the palms and soles of the feet and lesions may develop at the base of palmer and plantar pits. One of the prime features of NBCCS is development of multiple BCCs at an early age, often in the teen years. Each person who has this syndrome is affected to a different degree, some having many more characteristics of the condition than others.

Components:-
Some or all of the following may be seen in someone with Gorlin Syndrome:

1.Multiple basal cell carcinomas of the skin
2.Odontogenic keratocyst: Seen in 75% of patients and is the most common finding. There are usually multiple lesions found in the mandible. They occur at a young age (19 yrs average).
3.Rib and vertebrae anomalies
4.Intracranial calcification
5.Skeletal abnormalities: bifid ribs, kyphoscoliosis, early calcification of falx cerebri (diagnosed with AP radiograph)
6.Distinct faces: frontal and temporopariental bossing, hypertelorism, and mandibular prognathism

What genes are related to Gorlin syndrome?
Mutations in the PTCH1 gene cause Gorlin syndrome. This gene provides instructions for making a protein called Patched-1, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. A protein called Sonic Hedgehog is the ligand for the Patched-1 receptor. Patched-1 prevents cell growth and division (proliferation) until Sonic Hedgehog is attached.

The PTCH1 gene is a tumor suppressor gene, which means it keeps cells from proliferating too rapidly or in an uncontrolled way. Mutations in this gene prevent the production of Patched-1 or lead to the production of an abnormal version of the receptor. An altered or missing Patched-1 receptor cannot effectively suppress cell growth and division. As a result, cells proliferate uncontrollably to form the tumors that are characteristic of Gorlin syndrome.

You may click to learn more about the PTCH1 gene.

How do people inherit Gorlin syndrome?
Gorlin syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the features that are present from birth, such as large head size and skeletal abnormalities. An affected person often inherits a PTCH1 mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. For tumors to develop, a mutation in the other copy of the PTCH1 gene must occur in certain cells during the person’s lifetime. Most people who are born with one PTCH1 mutation eventually acquire a second mutation in certain cells and develop basal cell carcinomas and other tumors.

Causes:-
Gorlin syndrome is an autosomal dominant condition. The abnormal gene is found on chromosome 9. New mutations (where neither parent carries the gene) are common.

Diagnosis:–
Diagnosis of NBCCS is made by having 2 major criteria or 1 major and 2 minor criteria.

The major criteria consist of the following:

1.more than 2 BCCs or 1 BCC in a person younger than 20 years;
2.odontogenic keratocysts of the jaw
3.3 or more palmar or plantar pits
4.ectopic calcification or early (<20 years) calcification of the falx cerebri
5.bifid, fused, or splayed ribs
6.first-degree relative with NBCCS.

.
The minor criteria include the following:

1.macrocephaly.
2.congenital malformations, such as cleft lip or palate, frontal bossing, eye anomaly (cataract, colobma, microphtalmia, nystagmus).
3.other skeletal abnormalities, such as Sprengel deformity, pectus deformity, polydactyly, syndactyly or hypertelorism.
4.radiologic abnormalities, such as bridging of the sella turcica, vertebral anomalies, modeling defects or flame-shaped lucencies of hands and feet.
5.ovarian and cardio fibroma or medulloblastoma (the latter is generally found in children below the age of two).
People with NBCCS need education about the syndrome, and may need counseling and support, as coping with the multiple BCCs and multiple surgeries is often difficult. They should reduce UV light exposure, to minimize the risk of BCCs. They should also be advised that receiving Radiation therapy for their skin cancers may be contraindicated. They should look for symptoms referable to other potentially involved systems: the CNS, the genitourinary system, the cardiovascular system, and dentition.

Genetic counseling is advised for prospective parents, since one parent with NBCCS causes a 50% chance that their child will also be affected.

Treatment:–
Although there’s no cure, the carcinomas can be treated by surgery, lasers or photodynamic therapy, which reduces scarring.

If there’s a family history of the syndrome, it’s possible for family members to be tested to see if they carry the faulty gene.

Those with Gorlin syndrome are now advised to avoid – or to take advice before undergoing – any radiation treatment, as it’s thought it may exacerbate the condition.

Treatment is usually supportive treatment, that is, treatment to reduce any symptoms rather than to cure the condition.

*Enucleation of the odontogenic cysts can help but new lesions, infections and jaw deformity are usually a result.
*The severity of the basal cell carcinoma determines the prognosis for most patients. BCCs rarely cause gross disfigurement, disability or death .

*Genetic counseling

Advice and support:-
•Gorlin Syndrome Group
•Tel: 01772 496849
•Email: info@gorlingroup.org
•Website: www.gorlingroup.org

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/gorlinsyndrome1.shtml
http://en.wikipedia.org/wiki/Nevoid_basal_cell_carcinoma_syndrome
http://ghr.nlm.nih.gov/condition/gorlin-syndrome
http://dermnetnz.org/systemic/gorlins.html

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