Causes:

Huntington’s disease is caused by an inherited defect in a single gene. Huntington’s disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder.

With the exception of genes on the sex chromosomes, a person inherits two copies of every gene — one copy from each parent. A parent with a defective gene could pass along the defective copy of the gene or the healthy copy. Each child in the family, therefore, has a 50 percent chance of inheriting the gene that causes the genetic disorder.

Complications:

After the start of Huntington’s disease, a person’s functional abilities gradually worsen over time. The rate of disease progression and duration varies. The time from disease emergence to death is often about 10 to 30 years. Juvenile Huntington’s disease usually results in death within 10 years after symptoms develop.

The clinical depression associated with Huntington’s disease may increase the risk of suicide. Some research suggests that the greater risk of suicide occurs before a diagnosis is made and in the middle stages of the disease when a person has begun to lose independence.

Eventually, a person with Huntington’s disease requires help with all activities of daily living and care. Late in the disease, he or she will likely be confined to a bed and unable to speak. However, he or she is generally able to understand language and has an awareness of family and friends.

Common causes of death include:

• Pneumonia or other infections
• Injuries related to falls
• Complications related to the inability to swallow

Prevention:

People with a known family history of Huntington’s disease are understandably concerned about whether they may pass the Huntington gene on to their children. These people may consider genetic testing and family planning options.

If an at-risk parent is considering genetic testing, it can be helpful to meet with a genetic counselor. A genetic counselor will discuss the potential risks of a positive test result, which would indicate the parent will develop the disease. Also, couples will need to make additional choices about whether to have children or to consider alternatives, such as prenatal testing for the gene or in vitro fertilization with donor sperm or eggs.

Another option for couples is in vitro fertilization and preimplantation genetic diagnosis. In this process, eggs are removed from the ovaries and fertilized with the father’s sperm in a laboratory. The embryos are tested for presence of the Huntington gene, and only those testing negative for the Huntington gene are implanted in the mother’s uterus.

“Huntington’s disease causes nerve cells in the brain to decay over time.  The disease affects a person’s movements, thinking ability and mental health. Huntington’s disease is rare. It’s often passed down through a changed  gene from a parent. Huntington’s disease symptoms can develop at any time, but they often begin when people are in their 30s or 40s. If the disease develops before age 20, it’s called juvenile Huntington’s disease.”

MAYO CLINIC

Huntington’s disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington’s disease has a broad impact on a person’s functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.

Most people with Huntington’s disease develop signs and symptoms in their 30s or 40s. But the disease may emerge earlier or later in life.

When the disease develops before age 20, the condition is called juvenile Huntington’s disease. An earlier emergence of the disease often results in a somewhat different set of symptoms and faster disease progression.

Medications are available to help manage the symptoms of Huntington’s disease, but treatments can’t prevent the physical, mental and behavioral decline associated with the condition.

Symptoms

Huntington’s disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Which symptoms appear first varies greatly among affected people. During the course of the disease, some disorders appear to be more dominant or have a greater effect on functional ability.

Movement disorders

The movement disorders associated with Huntington’s disease can include both involuntary movement problems and impairments in voluntary movements, such as:

• Involuntary jerking or writhing movements (chorea)
• Muscle problems, such as rigidity or muscle contracture (dystonia)
• Slow or abnormal eye movements
• Impaired gait, posture and balance
• Difficulty with the physical production of speech or swallowing

Impairments in voluntary movements — rather than the involuntary movements — may have a greater impact on a person’s ability to work, perform daily activities, communicate and remain independent.

Cognitive disorders

Cognitive impairments often associated with Huntington’s disease include:

• Difficulty organizing, prioritizing or focusing on tasks
• Lack of flexibility or the tendency to get stuck on a thought, behavior or action (perseveration)
• Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity
• Lack of awareness of one’s own behaviors and abilities
• Slowness in processing thoughts or ”finding” words
• Difficulty in learning new information

Psychiatric disorders

The most common psychiatric disorder associated with Huntington’s disease is depression. This isn’t simply a reaction to receiving a diagnosis of Huntington’s disease. Instead, depression appears to occur because of injury to the brain and subsequent changes in brain function. Signs and symptoms may include:

• Feelings of irritability, sadness or apathy
• Social withdrawal
• Insomnia
• Fatigue and loss of energy
• Frequent thoughts of death, dying or suicide

Other common psychiatric disorders include:

• Obsessive-compulsive disorder — a condition marked by recurrent, intrusive thoughts and repetitive behaviors
• Mania, which can cause elevated mood, overactivity, impulsive behavior and inflated self-esteem
• Bipolar disorder — a condition with alternating episodes of depression and mania

In addition to the above symptoms, weight loss is common in people with Huntington’s disease, especially as the disease progresses.

Symptoms of juvenile Huntington’s disease

The start and progression of Huntington’s disease in younger people may be slightly different from that in adults. Problems that often present themselves early in the course of the disease include:

Behavioral changes

• Loss of previously learned academic or physical skills
• Rapid, significant drop in overall school performance
• Behavioral problems

Physical changes

• Contracted and rigid muscles that affect gait (especially in young children)
• Changes in fine motor skills that might be noticeable in skills such as handwriting
• Tremors or slight involuntary movements
• Seizures

“Buerger disease is a rare disease of the arteries and veins in the arms and legs. In Buerger disease — also called thromboangiitis obliterans — blood vessels become blocked.

There’s no cure for Buerger disease. The only proven treatment for Buerger disease is to quit using all tobacco products. Even one cigarette a day can make the disease worse. This includes using electronic cigarettes, vaping and using marijuana.”

MAYO CLINIC (Buerger disease – Diagnosis and treatment – Mayo Clinic)

This disease was first reported by Buerger in 1908, who described a disease in which the characteristic pathologic findings — acute inflammation and thrombosis (clotting) of arteries and veins — affected the hands and feet. Another name for Buerger’s Disease is thromboangiitis obliterans.

The classic Buerger’s Disease patient is a young male (e.g., 20–40 years old) who is a heavy cigarette smoker. More recently, however, a higher percentage of women and people over the age of 50 have been recognized to have this disease. Buerger’s disease is most common in the Orient, Southeast Asia, India and the Middle East, but appears to be rare among African–Americans.

Despite the severity of ischemia (lack of blood flow) to the distal extremities that occurs in Buerger’s, the disease does not involve other organs, unlike many other forms of vasculitis. Even as ulcers and gangrene develop in the digits, organs such as the lung, kidneys, brain, and gastrointestinal (GI) tract remain unaffected. The reasons for the confinement to the extremities and sparing of other organs are not known.

Cause for Buerger’s Disease:

The association of Buerger’s Disease is with tobacco use, particularly cigarette smoking, cannot be overemphasized. Most patients with Buerger’s are heavy smokers, but some cases occur in patients who smoke “moderately”; others have been reported in users of smokeless tobacco. It has been postulated that Buerger’s Disease is an “autoimmune” reaction (one in which the body’s immune system attacks the body’s own tissues) triggered by some constituent of tobacco.

The patient’s fingertips develope gangrene. This is a very painful condition which sometimes requires amputation of the affected area.

Buerger’s disease can be mimicked by a wide variety of other diseases that cause diminished blood flow to the extremities. These other disorders must be ruled out with an aggressive evaluation, because their treatments differ substantially from that of Buerger’s Disease (for Buerger’s, there is only one treatment known to be effective: complete smoking cessation — see below).

Diseases with which Buerger’s Disease may be confused include atherosclerosis (build–up of cholesterol plaques in the arteries), endocarditis (an infection of the lining of the heart), other types of vasculitis, severe Raynaud’s phenomenon associated with connective tissue disorders (e.g., lupus or scleroderma), clotting disorders of the blood, and others.

It should be noted that other substances, such as marijuana, have also been associated with a vasculitis similar to Buerger’s or polyarteritis nodosa that should be considered in the differential diagnosis.

Angiograms of the upper and lower extremities can be done.

How is Buerger’s diagnosed?

Buerger’s disease can be mimicked by a wide variety of other diseases that cause diminished blood flow to the extremities. These other disorders must be ruled out with an aggressive evaluation, because their treatments differ substantially from that of Buerger’s Disease (for Buerger’s, there is only one treatment known to be effective: complete smoking cessation — see below).

Diseases with which Buerger’s Disease may be confused include atherosclerosis (build–up of cholesterol plaques in the arteries), endocarditis (an infection of the lining of the heart), other types of vasculitis, severe Raynaud’s phenomenon associated with connective tissue disorders (e.g., lupus or scleroderma), clotting disorders of the blood, and others.

It should be noted that other substances, such as marijuana, have also been associated with a vasculitis similar to Buerger’s or polyarteritis nodosa that should be considered in the differential diagnosis.

Angiograms of the upper and lower extremities can be helpful in making the diagnosis of Buerger’s disease. In the proper clinical setting, certain angiographic findings are diagnostic of Buerger’s. These findings include a “corkscrew” appearance of arteries that result from vascular damage, particularly the arteries in the region of the wrists and ankles. Angiograms may also show occlusions (blockages) or stenoses (narrowings) in multiple areas of both the arms and legs.

Pictured below on the left is a normal angiogram. On the right, is an abnormal angiogram of an arm demonstrating the classic “corkscrew” appearance of arteries to the hand. The changes are particularly apparent in the blood vessels in the lower right hand portion of the picture (the ulnar artery distribution).

NORMAL ANGIOGRAM    VS    ABNORMAL ANGIOGRAM

Another Abnormal Angiogram in hand for Buerger’s Disease

  View in abnormal angio’s lacking of the dark black in fingers and thumbs as opposed to the normal one above.

In order to rule out other forms of vasculitis (by excluding involvement of vascular regions atypical for Buerger’s), it is sometimes necessary to perform angiograms of other body regions (e.g., a mesenteric angiogram).

Skin biopsies of affected extremities are rarely performed because of the frequent concern that a biopsy site near an area poorly perfused with blood will not heal well.

Treatment and Course of Buerger’s

It is essential that patients with Buerger’s disease stop smoking immediately and completely. This is the only treatment known to be effective in Buerger’s disease. Patients who continue to smoke are generally the ones who require amputation of fingers and toes.

Despite the clear presence of inflammation in this disorder, anti-inflammatory agents such as steroids have not been shown to be beneficial. Similarly, strategies of anticoagulation (thinning of the blood with aspirin or other agents to prevent clots) have not proven effective. The only way to prevent the progression of the disease is to abstain from all tobacco products.

“Akinetic keratosis is a rare, noncancerous skin condition characterized by persistent, scaly patches that do not regress spontaneously. It is often associated with chronic sun damage and may resemble actinic keratosis (AK) or keratoacanthoma (KA) in appearance, but it is distinct in its lack of spontaneous regression.”

The Skin Cancer Foundation (ps://www.skincancer.org/skin-cancer-information/actinic-keratosis/actinic-keratosis-warning-signs-and-images/)

Keratoacanthoma is a fast-growing, dome-shaped skin bump that can mimic squamous cell carcinoma and is usually treated as if it were cancer.

Cleveland Clinic (Keratoacanthoma: Symptoms, Causes & Treatment)

Continuation of Types of skin cancer:

5-Akinetic Keratosis:

Actinic keratosis (AK) is a skin disorder that causes rough, scaly patches of skin. Another name for AK is solar keratosis. AK is a type of precancer, which means that if you don’t treat the condition, it could turn into cancer. Without treatment, AK can lead to a type of skin cancer called squamous cell carcinoma.

The risk factors of Keratocanthoma (KA):

“Skin cancer occurs when skin cells grow abnormally and uncontrollably, leading to the formation of tumors. It primarily affects the epidermis, the outermost layer of skin. The most common types of skin cancer are basal cell carcinoma, squamous cell carcinoma, and melanoma. While basal and squamous cell carcinomas are often treatable and less aggressive, melanoma is more serious that can spread to other parts of the body if not detected early and Merkel skin cancer rare that is caused from a low immune system and sun exposure.”

Canadian Cancer Society (What is skin cancer? | Canadian Cancer Society)

Continuation of Types of Skin Cancer:

3-Squamous cell carcinoma – SCC

Squamous cell carcinoma is the second most common form of skin cancer in the United States. It accounts for about 15 percent of all skin cancers.  It is caused due to over production of skin cells. Squamous cell carcinoma of the skin is caused by DNA damage that leads to abnormal changes (mutations) in the squamous cells in the outermost layer of skin. This cancer is common (More than 200,000 cases per year in US).  The majority of squamous cell skin cancers are easily and successfully treated with current therapies.

Knowing the causes, risk factors and warning signs can help you detect them early, when they are easiest to treat and cure.

The risk factors of SCC:

–UV exposure from the sun or indoor tanning.

-History of skin cancer, including squamous cell carcinoma (SCC) or melanoma

– Age over 50: Most BCCs appear in people over age 50.

-Fair skin: People with fair skin have an increased risk.

Warning Signs can help with early detection and treatment this can be successfully removed without complications. Look out for any new, changing or unusual skin growths, so you can spot skin cancers like BCC when they are easiest to treat and cure.

IT’S A FACT, Squamous cell carcinoma is considered more aggressive than basal cell carcinoma.  If squamous cell carcinoma does spread to internal organs it can be life threatening. The quicker the treatment when SCC is in the one layer of skin only the better the results.  The primary symptom to look out for with SCC is a growing bump or lesion on the skin which has a rough scaly surface or flat red patches.

Treatments for SCC:

If the skin cancer is small, not deep into the skin, called superficial, and has a low risk of spreading, less-invasive treatment choices include:

• Curettage and electrodessication. This treatment involves removing the top of the skin cancer with a scraping tool called a curet. Then an electric needle is used to sear the base of the cancer.
• Laser therapy. This treatment uses an intense beam of light to destroy growths. There’s usually little damage to nearby tissue. And there’s a reduced risk of bleeding, swelling and scarring.
• Freezing. This treatment, called cryosurgery, involves freezing cancer cells with liquid nitrogen. Freezing might be done after using a scraping tool, called a curet, to remove the surface of the skin cancer.
• Photodynamic therapy. During photodynamic therapy, a liquid medicine that makes the cancer cells sensitive to light is applied to the skin. Later, a light that destroys the skin cancer cells is shined on the area. This treatment might be used with surgery or other treatments.

Treatments for larger skin cancers:

More-invasive treatments might be recommended for larger squamous cell carcinomas and those that go deeper into the skin. Options might include:

• Simple excision. This involves cutting out the cancer and a margin of healthy skin around it. Sometimes more skin around the tumor is removed, called a wide excision.
• Mohs surgery. Mohs surgery involves removing the cancer layer by layer and looking at each layer under the microscope until no cancer cells are left. This allows the surgeon to remove the whole growth without taking too much of the healthy skin around it.
• Radiation therapy. Radiation therapy uses powerful energy beams to kill cancer cells. Radiation therapy is sometimes used after surgery when there is an increased risk that the cancer might return. It also might be an option for people who can’t have or don’t want surgery.

Treatments for skin cancer that spreads past the skin:

When squamous cell carcinoma spreads to other parts of the body, medicines might be recommended, including:

• Chemotherapy. Chemotherapy uses strong medicines to kill cancer cells. If squamous cell carcinoma spreads to the lymph nodes or other parts of the body, chemotherapy can be used alone or with other treatments, such as targeted therapy and radiation therapy.
• Targeted therapy. Targeted therapy uses medicines that attack specific chemicals in the cancer cells. By blocking these chemicals, targeted treatments can cause cancer cells to die. Targeted therapy is usually used with chemotherapy.
• Immunotherapy. Immunotherapy is a treatment with medicine that helps the body’s immune system kill cancer cells. The immune system fights off diseases by attacking germs and other cells that shouldn’t be in the body. Cancer cells survive by hiding from the immune system. Immunotherapy helps the immune system cells find and kill the cancer cells.For squamous cell carcinoma of the skin, immunotherapy might be considered when the cancer is advanced and other treatments aren’t an option.

4-Merkel Cell Carcinoma

This is a type of skin cancer characterized by flesh-colored nodule that occurs on the face, head or neck. It begins in the cells at the base of the uppermost layer of the skin (epidermis).  A normal Merkel cell is a cross between a nerve cell and an endocrine (or hormone-producing) cell located on or just below the skin in the underlying tissue, and functions predominantly as a touch receptor. Merkel cell carcinoma occurs when these cells begin to grow uncontrollably.

Merkel cell tumors typically arise on, but are not limited to, sun-exposed parts of the body such as the face and neck. Their shape and color are less distinctive than other skin cancers, and they can often appear as an innocent pink pearly nodule. As a result, it is usually only the speed with which they grow that attracts the attention of patients and their doctors.

With early detection and treatment, Merkel cell carcinoma can be well contained and even cured. Treatment becomes more difficult as the tumor grows and spreads, but aggressive therapy can still lead to high rates of survival.

Again, Warning Signs can help with early detection and treatment this can be successfully removed without complications. Look out for any new, changing or unusual skin growths, get yourself to the doctor immediately so you can spot skin cancers like BCC when they are easiest to treat and cure.

Risk Factors of Merkel Cell Carcinoma:

–UV exposure from the sun or indoor tanning.

-History of skin cancer, including squamous cell carcinoma (SCC) or melanoma

– Age over 50: Most BCCs appear in people over age 50.

-Fair skin: People with fair skin have an increased risk.

-Male gender: Men are more likely to develop Basal Cell Carcinoma.

-Chronic infections and skin inflammation from burns, scars and other conditions-weakens the immune system.

-Merkel Cell Virus.  Recently, researchers have linked a virus to many cases of Merkel cell carcinoma. However, it remains to be determined if the Merkel cell polyomarvirus causes the disease, and if it might help guide future treatment. If so, the virus could offer promising new targets for immunotherapy.

IT’S A FACT, Memorial Sloan Kettering Hospital in NYC states  “Merkel cell carcinoma, also called neuroendocrine cancer of the skin, is an aggressive type of skin cancer that affects only about 400 people in the United States each year. But like other skin cancers, that number is growing.”.

Treatments:

Treatment of stage I and stage II Merkel cell carcinoma:

“The skin is made up of three layers. The top layer is called the epidermis. This is where most skin cancers, including squamous cell skin cancer, arise.

The skin is made up of three layers. The top layer is called the epidermis. This is where most skin cancers, including squamous cell skin cancer, arise.

Squamous cell carcinoma is the second most common form of skin cancer in the United States. It accounts for about 15 percent of all skin cancers. The majority of squamous cell skin cancers are easily and successfully treated with current therapies.

May is chosen to prepare individuals for the higher-risk summer months when UV exposure is at its peak, making sun safety practices especially important!”

Memorial Sloan Kettering Cancer Center (Squamous Cell Carcinoma | Memorial Sloan Kettering Cancer Center)