Dercum's Disease

Dercums disease is a disease accompanied by painful fatty swellings and by carious nerve lesions. Pain in the fatty tumors usually last for at least three months.  Often obesity occurs in a short period of time but there is also a type of Dercums disease that can occur without overweight.  The pain in fat and skin can be very intensive and can be described as aching, stabbing, smarting or burning.   Swellings consisting of irregular shaped soft fatty tissue deposits may occur in many areas of the body.  These deposits may spontaneously disappear, leaving hardened lumpy or rope-like tissue or pendulous fold of the skin. It can exist in practically the entire fatty tissue layer, but most commonly affected are the knees, trunk, forearms, and thighs, sometimes sparing of the face and hands.

Some affected individuals may experience depression, lethargy and confusion, “fatty tumors” can be felt in the fat, they are intensely painful, and usually harmless, unless a tumor moves to the lung or heart which can be fatal.

Other common symptoms are:

• Various areas of the body may swell for no reason.
• The fingers become clumsy, you drop things and sometimes the fingers go numb.
• Disturbed sleep, many have difficult time going to sleep because of the pain, but other forms of sleeping disorders may occur.
• General fatigue, gets worse with even mild activity.
• Stiffness after resting, especially in morning.
• Skeletal pain in wrist, elbows, hips, tail bone, and the long bones in arms and legs.
• Headache.
• Memory lapses and concentration difficulties makes it difficult to learn new things and to accomplish demanding intellectually jobs.
• Feeling hot is often felt by the patients.
• Tenderness under the feet, it feels like walking on glass.
• Tenderness in skin, difficulties to wear tight firming clothes or take shower.

The pain seems to depend on the temperature and the weather and decrease normally at dry heat.  Warm baths have a positive but temporary impact though some patients do not tolerate heat.  Generally the pain increases with menstruation in women and sexual problems can arise because of the pain.  Dercum’s pain always exists, regardless is you sleep or are awake the pain can make it difficult to walk, drive a car, open a water tap, lift items, carry bags, open heavy doors, vacuum, clean, hang laundry, wash floors, wipe windows, ect.

Causes:

Causes are poorly researched; the symptoms and the lack of treatments can seriously affect the quality of life.  Since the disorder does not show on the outside it can be hard for others to see the level of difficulties and discomfort the patient experiences.   More than half of the patients are unable to work and the disorder can grow slowly for many years or quickly because of external stress, such as: surgery, pregnancy, or flu. Dercum’s is thought to be inherited as an autosomal dominant genetic trait that is particularly strong in the line of grandmother-mother-daughter.  This disease is an auto-immune disease such and not a metabolic disturbance.

Treatment:

The Dersum’s disease diagnosis is based on what the patient tells and what the doctor finds at his examination.  There are no test to take, but some blood samples can show signs of infection that the immune system is not acting properly.  The doctor can also take blood samples in order to exclude other disease. Treatment is inadequate.  Attempts have been made to get patients to lose weight, but it extremely difficult.  If the patient does succeed, the weight loss has little of no effect on the symptoms. Medication that decreases pain, massage, warm baths, acupuncture, avoiding physical or psychological stress or information about the disorder may all help with treatment.

Pompe Disease

Pome disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs the ability to function normally. Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear.  These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.

Classic from of infantile-onset Pompe disease begins within a few months of birth, infants with this disorder typically experience muscle weakness, poor muscle tone, enlarged liver and heart defects.  The affected infants may also fail to gain weight and grow at the expected rate and have breathing problems.  If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.

The non-classic form of infantile-onset Pompe disease usually appears by age 1.  It is characterized by delayed motor skills and progressive muscle weakness.  The heart may be abnormally large but affected individuals usually do not experience heart failure.  The mucle weakness in this disorder leads to serious breathing problems, and most children with this form live only unto early childhood.

The late onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood.  This form of disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart.  Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.

Pompe disease affects about 1 in 40,000 people in the United States.  It is inherited in at autosomal recessive pattern, which means both copies of the gene in each cell have mutations.  The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Adie Syndrome

Adie syndrome is a neurological disorder that is characterized by a tonically dilated pupil  It is sometime known as holmes-Adies syndrome or Adie’s Tonic Pupi and is named after the British neurologist William John Adie.  Adie syndrome is cause by damage to the postganglionic fibers of the eye that are usually by a bacteria or viral infection.  The infection causes inflammation, and affects the pupil of the eye and the autonomic nervous system.
Adie syndrome presents with three hallmark symptoms, namely at least one abnormally dilated pupil which does not constrict in response to light, loss of deep tendon reflexes and excessive sweating.
Causes of Adie syndrome is thought to be the result of a viral or bacterial infection that causes inflammation and damage to neurons in the ganglion which controls eye movements ad the spinal ganglion.
Treatment for Adie syndrome is to b prescribed reading glasses to correct for impairment of the eye.  Pilocarpine drops may be administered as a treatment as well as a diagnostic measure.  Adie’s is not life threatening or disabling and there is no mortality rate relating to the condition; however loss o deep tendon reflexes is permanent and may progress over time.

Behcet's Disease

            Behcet’s disease is common the Middle East, Asia, and Japan but is rare in the United Sates.  This disease affects more man than is does woman in Middle Easter and Asian countries, but in the United States, it affects more women than men.  This disease tends to develop in people in the 20’s or 30’s, but people of all ages can develop this disease.  Behcet’s disease is an autoimmune disease that results from damage to blood vessels through the body, particularly veins, the immune system attacks and harms the bodies’ own tissues. 

The exact cause of Behcet’s disease is unknown; most symptoms of the disease are caused by vasculitis, which is an inflammation of the blood vessels.  Inflammation is a characteristic reaction of the body to injury or disease and is marked by four signs: swelling, redness, heat, and pain.  This disease affects each person differently, the four most common symptoms are mouth sores, inflammation inside of the eye, genital sores, and skin problems.  Other symptoms may include arthritis, blood clots, and inflammation in the central nervous system and digestive organs.

Behcet’s disease has the ability to involve blood vessels of nearly all types and sizes, ranging from small arteries to large ones, and involving veins as well as arteries.  The disease does seem to target certain organs and tissues; described below:

Eye: Behcet’s may cause either anterior inflammation in the front of the eye or posterior and sometimes may cause both at the same time.  Anterior uveitis results in pain, blurry vision, light sensitivity, tearing, or redness of the eye.  Posterior uveitis may be more dangerous and vision is threatened because if often causes fewer symtpoms while damaging a crucial part of the eye—the retina.

Mouth: Painful sores in the mouth affect almost all patients with Behcet’s disease.  The sores are called aphthous ulcers, these individual sores or ulcers are usually identical to canker sores and are usually a minor trauma.  They are often the first symptom that a person notices and may occur long before any other symptom occurs, but the lesions are more numerous, more frequent, and often larger and more painful than any common canker sore.  The sores usually have a red border and several may appear at the same time, they make eating very difficult and do not go away for 10 to 14 days. 

Skin: Skin problems are a common symptom of Behcet’s disease; the skin sores often look red or resemble pus-filled bumps or a bruise.  The sores are red and raised, and typically appear on the legs and on the upper torso.  When doctors suspect that a person has Behcet’s disease, they perform a pathergy test, in which they prick they skin with a small needle; 1 to 2 days after the test, people with Behcet’s may develop a red bump where the doctor pricked the skin.  Skin disorders are less common in patients from the United States, but if this occurs, Behcet’s disease is likely.  Skin lesions are called erythema nodosum; it is red, tender nodules that usually occur on the legs and ankles but also appear sometimes on the face, neck, or arms.

Joints: Arthritis, which is inflammation of the joints, occurs in more than half of all patients with this disease.  Arthristis causes pain, swelling, and stiffness in the joints, especially in the knees, wrists, elbows, and ankles. The pain usually from Behcet’s lasts a few weeks and does not cause permanent damage to the joints.

Brain: Behcet’s disease affects the central nervous system in about 23 percent of all patients with disease in the United States.  The central nervous system includes the brain and spinal cored and it’s function is to process information and coordinate thinking, sensation, movement, and behavior.  Behcet’s disease can cause inflammation of the brain and the thin membrane that covers and protects the brain and spinal cord.

Epidermodysplasia Verruciformis (EV)

Epidermodysplasia Verruciformis is a rare autosomal recessive inherited skin disorder that is characterized by eruptions of wart-like lesions that may occur anywhere on the body.  A common name usually heard with this disease is tree man disorder because the symptoms on the body appear as bark-like lesions.  The lesions are caused by an infection with the human papillomavirus.  There are over 70 different types of HPV that are responsible for causing a wide range of viral warts. It has been found that patients with EV have an abnormal or impaired immune response to HPV or wart viruses. A major concern for patients with EV is that the wart-like lesions may transform into skin cancers.

EV is an autosomal recessive inherited disorder, which means that 2 abnormal EV genes (one from each parent) are needed to have this disease.  Ten percent of the EV cases comes from marriages between blood relatives (the patents share a common ancestor).  In few cases, sex-linked and autosomal dominant inheritance patterns have also been found.

The warts usually start to develop sometime during childhood.  Only 7.5% of cases appear in infancy while 22.5% appear in puberty.  The disease affects both males and females and people of all races. The lesions have been described as flat, wart -like lesions that look like plane warts.  Flat wart lesions also commonly appear on sun-exposed areas such as the hands, feet, face, and ear lobes. Plaque-like lesions usually appear on the trunk, neck, arms, and legs. The palms, soles, armpits and external fenitals may also be involved.  In most cases the warts occur in clusters and can be anything from a few warts to over a hundred.

EV is a lifelong disease, even though the lesions can be treated or removed as they appear, patients will still continue to develop the lesions throughout life. In many cases lesions may develop and remain unchanged for years.  There is no current treatment to prevent new EV lesions from occurring. The management of EV involves a combination of medical and surgical treatments alongside patient counseling and education.

Robinow Syndrome

Robinow Syndrome is another rare disorder that affects the skeletal development and many other parts of the body.  It is extremely generic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia.  There are two tpes of Robinow syndrome, which are distinguished by the severity of their symptoms and signs and by their patters of inheritance. 

The first type is Autosomal recessive Robinow syndrome which is characterized by skeletal abnormalties including the shortening of the long bones in the arms and legs, particularly in the forearms; abnormally short fingers and toes; wedge-shaped spin bones; missing ribs; short stature; and distinctive facial feature.  The second type is Autosomal dominant Robinow syndrome which has similar symptoms but tend to be milder than those of the recessive from. Abnormalities of the spine and ribs are rarely seen in the dominany form and this form is less frequent to have.

Medican conditions include frequent ear infections, hearing loss, hypotonia, developmental problems, respiratory problems, eating difficulties, light sensitivity, and esophageal reflux.  It has been that both male and female patients have had children with this rare disease.  Robinow syndrome is so rare that fewer thatn 200 are affected and reported worldwide.

Debys-Drash Syndrome

Debys-Drash syndrome (DDS) is a disorder with three main parts: Kidney disease present at birth, Wilms tumor (a kidney cancer), and a malformation of the sexual organs.  This syndrome is a genetic disorder that is caused by mutations in the Wilms tumor gene.

Kidney disease: Infants with Denys-Drash syndrome usually are diagnosed with kidney disease between 2 weeks and 18 months of age. These children develop nephrotic syndrome because the kidney tissue becomes hardened and scarred.  They may also develop high blood pressure because of this particular disease.

Wilms Tumor: This is a concerous tumor that grows on the kidneys.  Almost all of the children with Denys-Drash syndrome develop Wilms tumor on one of both of their kidneys.  Usually it is diagnosed at around 2 years of age.

Sexual organ malformation: Both the sexual organs inside the body and those on the outside can be malformed. Boys may have a very tiny penis with undescended malformed testicles, and girls may have enlarged labia and malformed ovaries.  Children with this syndrome are at high risk for developing cancer in these malformed tissues.

To be diagnosed with this particular syndrome there are usually symptoms that show:

• Swelling of the parts of the body, especially the abdomen
• Very little urination
• Protein in the urine
• High blood Pressure
• Swollen abdomen and abdominal pain
• Blood in the urine
• A lump or mass in the abdomen
• Abnormal outer genitalia can be seen at birth.

Treatment of Denys-Drash syndrome includes management of the kidney function, high blood pressure and complications from kidney disease.  Surgery is used to remove Wilms tumor and often both diseased kidneys are removed. The affected child would then need dialysis and in severe cases, kidney transplants. Abnormal sexual organs may be removed to prevent cancer growth.