What Is Sclerodactyly?
Scleroderma is a rare genetic disorder characterized by a thickening of connective tissue, which causes the skin to become hard and leathery. Skin becomes dry and scaly, hair loss occurs, joints are painful, and vision problems may develop. There is no cure for scleroderma but there are treatments available such as wearing special shoes or socks made from materials that prevent the growth of bacteria.
The condition affects approximately 1 in every 100,000 people worldwide. It is caused by mutations in the SCN1A gene. People with scleroderma have two copies of the mutated gene: one from each parent. If either copy does not produce a functional protein, then the person will develop scleroderma.
Approximately 40% of cases are autosomal recessive (one affected parent must carry the mutation). Another 20% are X-linked (both parents must carry the mutation) and 10% are monosomal dominant (only one parent needs to carry the mutation).
In addition to having hard, leathery skin, people with scleroderma also experience other symptoms such as joint pain, poor circulation to the hands and feet, vision problems due to decreased blood flow in these areas, hair loss on their head and body. They also tend to sweat less than others.
Scleroderma can also be classified into three categories. These are localized scleroderma, diffuse scleroderma, and systemic sclerosis.
Localized scleroderma typically affects the hands and feet and is also known as morphea. This form of the condition may disappear on its own or persist throughout life.
Diffuse scleroderma occurs when the skin on various parts of the body become hardened, including the face. The prognosis for this form of the condition is poor and it can lead to respiratory problems, kidney disease, digestive issues, and heart disease.
Systemic sclerosis involves the hardening of various internal organs. This form of scleroderma affects the skin on less than 10% of people with the disorder.
Treatment for scleroderma typically involves taking prescription medications to help with the symptoms of the disease such as pain relievers for joint pain.
In some cases, doctors may recommend surgery to remove hardened skin. In many cases, the skin eventually grows back in a thicker form. Additionally, people with scleroderma are encouraged to keep their skin moisturized and protected from the sun to prevent peeling and cracking.
While there is no known cure for scleroderma, current studies are ongoing to better understand the condition and to find new treatments.
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Sclerodactyly is a rare inherited condition that affects the development of the hands and feet. It is caused by a defective gene and passed on from parents to their offspring. And it causes the skin on parts of the hands and feet to harden and thicken. The exact effects that sclerodactyly has on each person can vary between individuals.
This condition is most common on the hands. But it can also affect other parts of the body such as the feet and toes.
Sclerodactyly begins to develop during the early stages of pregnancy. The skin tissue doesn’t develop at a normal rate causing it to become excessively thick. The skin may start off as soft and velvety. But over time it becomes hard and scaly, similar to the shell of a reptile.
The affected skin on the hands can make it difficult for people to perform certain tasks such as writing. This is due to the thickened skin on the finger tips. It can also cause problems for the person if they need to run, jump or walk any distance. The hard skin on the sole of the feet can make it painful and difficult to walk.
People with sclerodactyly also have mildly curved fingers and shortened digits.
Currently there is no known cure for sclerodactyly. Most people with this condition are able to lead a normal life. But it can be a source of anxiety for some, especially when it affects their hands. The thick skin on the hands and feet can also become susceptible to skin infections.
Sclerodactyly is an inherited condition that is caused by a defective gene. It is passed on from parents to their offspring much like any other genetic disorder. Sclerodactyly is a recessive trait, which means that an individual needs to have defective copies of the gene from each parent to develop sclerodactyly. If an individual inherits just one copy of the defective gene they are known as a carrier.
It is extremely rare for two unaffected parents to have a child with sclerodactyly. It is estimated that less than 1% of the world population is a carrier of the defective gene. Most people with sclerodactyly are from isolated communities with common ancestors.
There are various degrees of scleroderma. About 1 in 5 people with scleroderma develop it during infancy. These cases are known as diffuse cutaneous scleroderma and can lead to serious disfigurement and loss of function if not treated. This form of scleroderma is most common on the hands and feet.
It primarily affects the fingers and toes leading to a tightening of the skin, which causes it to bend and curl into itself. The sides of the fingers and toes can also invert, causing the skin to turn inwards.
The skin on the fingers and toes will harden and thicken causing it to feel lumpy or bumpy. The nails can become discolored and thickened. If left untreated skin can begin to die and eventually slough off.
Scleroderma is a progressive condition, which means that it tends to get worse as time goes on. The affected skin can also be prone to infection due to its hardened nature.
Treatments for scleroderma are available and can be used to slow down the condition. The most common treatment is a drug called Methotrexate. This drug works by slowing down the activity of the immune system. Other drugs such as ciclosporin and acitretin have been known to be effective.
There is no guarantee that any of these treatments will work or that they will stop the condition from getting worse. The skin can remain hardened even if the person with scleroderma stops taking their medication.
Other treatments for scleroderma are available but not routinely offered due to the severe nature of the side effects. These include chemotherapy, radiation therapy and surgery.
The outlook for people with sclerodactyly depends on what form they have and how severely it affects them. In general people with scleroderma can lead long and relatively normal lives. Most are able to walk, work and even raise a family. The psychological effects of the condition are more detrimental than the physical effects.
Many people with scleroderma suffer from depression due to the disfigurement it can cause.
Most people with scleroderma are able to lead relatively normal lives, many of them without any form of treatment. Those who do need treatment can take a drug called Methotrexate, which can help reduce inflammation and swelling in the skin.
As with all medical conditions, there is no guarantee that any treatment will work for you or that it will stop the condition from getting worse. Your best bet is to speak to your doctor as soon as possible about the condition and seek professional medical advice.
Learn more about Scleroderma and find support at the Scleroderma Foundation website.
What is Dupuytren’s Contracture?
Dupuytren’s disease is a condition which causes the fingers and hands to contract into a stiff, bent position. It most commonly affects men in their 60s or 70s and begins as a small lump under the skin on the palm side of the finger. As the contracture worsens, the lump spreads thinner and wider across the palm of the hand. It can also affect the toes as well.
The cause of this condition is unknown but there are associations with Dupuytren’s and a family history of the disease. People who have diabetes, smoke, or drink excessively are also more prone to developing it. People who work with their hands are more likely to develop it as well.
Dupuytren’s is not painful but the stiff fingers can make simple tasks such as picking things up, tying shoe laces, and brushing hair difficult. It can also cause difficulty in working and doing the simplest of tasks.
Dupuytren’s can be diagnosed by a physical examination and medical history. There is no cure for it but medications and surgery are available to help treat it.
The outlook for people with this condition is very good. Most people see improvement within a few months of beginning treatment and it will continue to improve for years after.
Dupuytren’s is a progressive condition, meaning that it will continue to worsen over time if left untreated. Most cases of the disease are mild or moderate and can be treated with medication.
Severe cases may require surgery. This surgery involves cutting the tissue that is pulling the fingers into a bent position and removing the diseased tissue. During this surgery, the doctor can also remove some of the tissue from your palms to prevent the contracture from returning.
Even after surgery, you may have a permanent bend or claw hand. There is a high chance that you will develop the condition in other fingers within five years of the original surgery.
If you have this condition, it’s important to begin treatment as soon as possible.
What is Neurofibromatosis?
Neurofibromatosis (NF) is a disease that affects the peripheral nervous system and causes tumors to grow on nerve tissue. There are several types of NF, each with their own set of symptoms.
All types cause excessive growths of nerve tissue that look like stretch marks on the skin. These marks can be any color and are often itchy or painful. They can also break open and ooze.
Some types of NF also cause problems with other parts of the body such as excessive growth on bones, skin discoloration, blindness, baldness, and hearing loss.
The most common type of NF is called Neurofibromatosis Type 1 (NF1). This type affects about one in 3,000 people and is inherited from your parents. If one of your parents has it, you have a 50% chance of getting it too. NF1 causes the growths to develop all over the body and can cause other problems such as learning disabilities, bone deformities, and weakness in muscles.
The second most common type is called Neurofibromatosis Type 2 (NF2). This type affects about one in 25,000 people and causes tumors to grow on the nerve connecting the inner ear and the brain. NF2 can cause deafness, ringing in the ears, dizziness, and balance problems.
There are two other types of NF: Schwannomatosis and Congenital Neurofibromatosis. Schwannomatosis is a rare type that only affects children and causes benign tumors to grow on nerves throughout the body. Congenital Neurofibromatosis is also rare and causes tumors to grow around the time of birth.
The symptoms of all types of NF can be treated or controlled but cannot be cured.
What are the symptoms of Neurofibromatosis?
Not everyone with Neurofibromatosis will have all of the symptoms and some people may only have a few. The age that the symptoms begin and how fast they progress vary from person to person.
The most common symptom of all types of NF is the growths called neurofibromas. These may look like small bumps, warts, or even ropey threads under your skin. They usually start around your age of puberty and can grow very quickly in just a few weeks. They can also shrink or disappear completely for short periods of time.
Other symptoms to look for are bumps under the skin anywhere on your body, unusually long or thick hairs, reddish or brown patchy spots on the skin, and little lumps under the skin called lipomas.
Most types of NF also cause problems with certain parts of the body. For example, people with NF1 are often very short. They may also have curvature of the spine (scoliosis), abnormal bone growths, weaker eyes, and hearing loss. People with NF2 often have vision problems and hearing loss.
People with Schwannomatosis or Congenital Neurofibromatosis can have any of the previous symptoms along with dysfunction of the nerves, enlarged organs, and bone deformities.
How is Neurofibromatosis diagnosed?
Your doctor will ask you questions about your medical history and do a physical exam. You may also have blood tests to rule out other conditions.
If you have NF, your doctor may refer you to a neurologist or a geneticist who are experts in the brain and spinal cord. They may also refer you to an ophthalmologist or an otolaryngologist who are eye and ear doctors, respectively. These specialists can help determine if the condition is causing other health problems.
If you have any of the following, you will likely have imaging tests to get pictures of your body. This can show health professionals if you have any lumps, bumps, or other signs of NF:
A lump or bump that doesn’t go away
Changes in your skin color
Hair where there wasn’t any before
A sore that doesn’t heal
A dent or unnatural lump under your skin
Reluctance to do physical activity
Unusual tiredness after activity
Treatment for Neurofibromatosis
The health problems caused by the cell tumors caused by NF can be treated. For example, hearing loss can be treated with hearing aids and surgery can be done to remove large tumors in the chest. Treatment for other symptoms will depend on what those symptoms are. If necessary, a team of healthcare providers will coordinate the treatment and make sure that you receive the best care possible.
Most people with NF will have to have a multidisciplinary approach to treatment. This means that you may need to see different medical professionals like physical therapists, dermatologists, ophthalmologists, neurologists, oncologists, and surgeons.
Continued monitoring by your health care team is important. Tumors can grow and become cancerous so regular checkups are necessary.
Living with Neurofibromatosis
NF can affect all aspects of life, but many people live long, healthy lives. It’s most important to pay attention to your body and contact a doctor if you notice anything out of the ordinary. It is also very important for family members to be aware of the symptoms and risks and see a doctor as soon as possible if they notice any symptoms in their children.
Sources & references used in this article:
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