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Neurofibromatosis in Children

Fri 24 Feb 2017 19:18:12 +0200

“Neurofibromatosis” is actually a term, which encompasses at least two distinct disorders. Neurofibromatosis type 1 (NF1) is the more common, affecting about 1/4000 people throughout the world. Neurofibromatosis type 2 (NF2) affects about 1/40,000 people.

NF1 manifests itself at birth or during early childhood. It is a genetic condition that can cause a variety of symptoms, including:

multiple flat, light-brown patches of skin pigment, called café-au-lait macules or spots
skinfold freckling
visible neurofibromas that appear as bumps on or under the skin
small nodules on the iris (colored part of the eye) called Lisch nodules, which do not cause problems. They’re invisible to the naked eye, but can be detected by an ophthalmologist.

Enlargement and deformity of bones and curvature of the spine (scoliosis) may also be present. On occasion, people with NF1 may develop tumors in the brain, on the cranial nerves or involving the spinal cord. Since neurofibromas are wrapped around nerve fibers, they can sometimes be painful if pressure is applied to them. Neurofibromas can be removed, but the surgery may leave a scar, and the neurofibroma may grow back.

Some children with NF1 may also have plexiform neurofibromas. These are a different kind of neurofibroma. They may be large, and they can encircle and interweave with normal tissue, making them extremely hard to remove. Doctors monitor these tumors for change in size, consistency or appearance of new symptoms such as pain.

The Spots of Neurofibromatosis

Tue 21 Feb 2017 17:21:13 +0200

Café au lait spots, or café au lait (CAL) macules (CALMs), are hyperpigmented lesions that may vary in color from light brown to dark brown; this is reflected by the name of the condition, which means "coffee with milk." The borders may be smooth or irregular.

The size and number of café au lait skin lesions widely vary and are usually the earliest manifestations of neurofibromatosis. The macules may be observed in infancy, although they are typically very light in infants and can be difficult to appreciate. The skin lesions develop in early infancy, and they may enlarge in size and become obvious after age 2 years.

Café au lait macules are observed in 95% of patients with neurofibromatosis type 1 (NF1), which is the most frequently occurring neurocutaneous syndrome. These spots may also be observed in patients without NF1. Other conditions in which they may be observed include McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia.

Whereas small café au lait spots are associated with various syndromes, large, solitary, light-brown patches often represent segmental lentigines that are not associated with any neurocutaneous syndromes or developmental anomalies. Mosaic presentations of neurofibromatosis can also manifest localized café au lait macules or patches.

Neurofibromatosis Baby

Sun 19 Feb 2017 07:41:45 +0200

Neurofibromatosis baby is an unpredictable disorder. Its severity varies widely, even between two people in the same family. Some people with NF1 may be completely unaware they're affected, going through life with only a few café-au-lait spots and bumps on the skin. Others may develop at any time specific medical and cosmetic complications related to the disorder.

Most newborns with the NF1 gene mutation show few or no signs of the disorder. Café-au-lait spots often initially appear in the first few weeks of life, but their absence in a newborn at risk of inheriting NF1 is not a good indicator of whether or not the child has the disorder. The spots may show up later.

Neurofibromas are uncommon in infancy. One exception is the plexiform neurofibroma, a neurofibroma that most often affects multiple branches of large nerves. Plexiform neurofibromas often first appear in infancy as a soft swelling under the skin. However, their absence in a newborn is not a good indicator of whether or not one will appear later in life. Plexiform neurofibromas located deep under the skin may not emerge until they have grown.

Characteristics of NF1 in the early childhood period include the following:

Embryonal tumors
Compression injuries: Plexiform neurofibromas in the mediastinal cavity may cause compression. Back pain in a patient with café au lait lesions should always be taken seriously because this symptom may be a sign of a radiculopathy.
Optic pathway gliomas: These occur by the time the patient is aged 3 years.

Neurofibromatosis

Thu 16 Feb 2017 02:47:10 +0200

Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue. These tumors can develop anywhere in your nervous system, including your brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood.

In most cases of neurofibromatosis the skin is affected, causing symptoms such as:

pale, coffee-coloured patches
soft, non-cancerous bumps on or under the skin (neurofibromas)

Skin neurofibromas are usually soft and painless. Those that are under the skin are usually firmer to touch but are usually also painless. Other neurofibromas may be deep in the body and cannot be felt from the outside. They do not cause health problems generally although some may press on a nerve and symptoms may develop such as pain or numbness. In this case, you need to see your doctor. Typically, adults will acquire more neurofibromas as they age because they do not go away.

Some neurofibromas can grow in a wide, spreading fashion around large nerves and may feel like a bunch of knots or cords beneath the skin. These types of growths are called plexiforms. Sometimes they will be obvious in early life as an area of swelling but other times they can lie deeper in the body and are harder to detect. They can grow anywhere on the body and, more rarely, occasionally on the face.
When they are present near the surface they sometimes grow to a large size. If this is going to happen it usually does so within the first few years of life. These tumours can be painful if knocked and can be disfiguring depending on their size and shape.

Adults with Neurofibromatosis

Tue 14 Feb 2017 09:28:32 +0200

Neurofibromatosis is a rare genetic disorder that causes typically benign tumors of the nerves and growths in other parts of the body. Some people with this disorder have barely noticeable neurological problems, while others are affected profoundly.

Coffee-coloured patches

The most common symptom of NF1 is the appearance of painless coffee-coloured patches on the skin, known as café au lait spots. They affect 95% of people with NF1. The spots can be present at birth or develop by the time a child is three years old.

During childhood, most children with NF1 will have at least six café au lait spots around 5mm across. These grow to about 15mm during adulthood.

The number of café au lait spots someone has isn't related to the severity of the condition. For example, a person with 10 spots has the same chance of developing further problems as someone with 100 spots.

Having a couple of café au lait spots doesn't necessarily mean you have NF1. About one in 10 people without the condition have one or two of these spots.

Freckles

Another common symptom of NF1 is clusters of freckles in unusual places, such as the armpits, groin and under the breast.

Bumps on or under the skin

As a child gets older, usually during teenage years or early adulthood, they develop bumps on or under their skin (neurofibromas). These are caused by non-cancerous tumours that develop on the coverings of nerves. They may vary in size, from pea-sized to slightly bigger tumours. Some neurofibromas have a purple colour.

The number of neurofibromas a person has can vary. Some people only have a small number while others have them on large sections of their body.

Most neurofibromas aren't particularly painful, but may look unattractive, catch on clothes and occasionally cause irritation and stinging.

However, if neurofibromas develop where multiple branches of nerves come together (plexiform neurofibromas), they can cause large swellings. Plexiform neurofibromas sometimes occur on the skin, but may also develop on larger nerves deeper in the body. They may sometimes cause symptoms including pain, weakness, numbness, bleeding, or bladder or bowel changes.

Neurofibromatosis Early Stages

Thu 09 Feb 2017 21:50:59 +0200

Neurofibromatosis usually appears in childhood. Signs are often evident at birth or shortly afterward, and almost always by age 10. Signs and symptoms are often mild to moderate, but can vary in severity.

Signs and symptoms include:

Flat, light brown spots on the skin (cafe au lait spots). These harmless spots are common in many people. Having more than six cafe au lait spots is a strong indication of NF1. They are usually present at birth or appear during the first years of life and then stabilize.
Freckling in the armpits or groin area. Freckling usually appears by ages 3 to 5. Freckles are smaller than cafe au lait spots and tend to occur in clusters in skin folds.
Tiny bumps on the iris of your eye (Lisch nodules). These harmless nodules can't easily be seen and don't affect your vision.
Soft bumps on or under the skin (neurofibromas). These benign tumors usually develop in or under the skin, but can also grow inside of the body. Sometimes, a growth will involve multiple nerves (plexiform neurofibroma).
Bone deformities. Abnormal bone growth and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or bowed lower leg.
Tumor on the optic nerve (optic glioma). These tumors usually appear by age 3, rarely in late childhood and adolescence, and almost never in adults.
Learning disabilities. Impaired thinking skills are common in children with NF1, but are usually mild. Often there is a specific learning disability, such as problem with reading or mathematics. Attention-deficit/hyperactivity disorder (ADHD) is also common.
Larger than average head size. Children with NF1 tend to have a larger than average head size due to increased brain volume.
Short stature. Children with NF1 often are below average in height.

Von Recklinghausen’s Disease

Mon 06 Feb 2017 12:46:40 +0200

Von Recklinghausen’s disease (VRD) is a genetic disorder characterized by the growth of tumors on the nerves. The disease can also affect the skin and cause bone deformities.
The most common form of VRD is NF1. This disease causes tumors called neurofibromas in the tissues and organs of the body. According to the Dental Research Journal, VRD is one of the most common genetic disorders and affects about 1 in 3,000 people.

Symptoms of VRD affecting the skin include the following:

Café au lait macules are tan spots in different sizes and shapes. They can be found in multiple places on the skin.
Freckles can occur under the arms or in the groin area.
Neurofibromas are tumors around or on peripheral nerves.
Plexiform neurofibromas are tumors affecting the nerve bundles.

Other signs and symptoms of VRD include the following

Lisch nodules are growths affecting the iris of the eyes.
Pheochromocytoma is a tumor of the adrenal gland. Ten percent of these tumors are cancerous.
Liver enlargement can occur.
Glioma is a tumor of the optic nerve.

Bone involvement from VRD includes short stature, deformities of bones, and scoliosis, or abnormal curvature, of the spine.

All patients should have yearly neurological exams and yearly eye exams.

Melasma (Chloasma)

Mon 30 Jan 2017 17:59:25 +0200

Melasma (Chloasma) is a condition in which areas of the skin become darker than the surrounding skin. Doctors call this hyperpigmentation. It typically occurs on the face, particularly the forehead, cheeks and above the upper lip. The dark patches often appear on both sides of the face in a nearly identical pattern. The darker-colored patches of skin can be any shade, from tan to deep brown. Rarely, these dark patches may appear on other sun-exposed areas of the body.

Melasma occurs much more often in women than in men, and usually is associated with hormonal changes. That is why the dark patches develop often during pregnancy, or if a woman is taking hormone replacement therapy (HRT) or oral contraceptives. Melasma during pregnancy is relatively common. Sometimes it is called the "mask of pregnancy" or "chloasma." The dark patches typically last until the pregnancy ends.

The most important factor in the development of melasma is exposure to sunlight. Using medications that make you sensitive to the sun (photosensitizing) can increase your risk of developing melasma. These can include some cosmetics and medicines used to treat ovarian or thyroid problems. Protection from the sun is a necessary part of treatment of melasma. For example, women who are pregnant or who take a hormone medication and avoid the sun are less likely to develop melasma than are those who spend a lot of time in the sun.

Darker patches of skin appear on the forehead, temples, cheeks or above the upper lip. The symptoms are strictly cosmetic — you won't feel ill, and the darker skin won't be sore.

A doctor will diagnose melasma simply by looking at your skin. Your medical history will help to determine any factors that may have caused the disorder.

Your doctor may use a special lamp that gives off ultraviolet light. This allows the doctor to see patterns and depth of skin discoloration more clearly.

Chloasma on Face

Sun 29 Jan 2017 09:05:19 +0200

Melasma, also known as chloasma, is a the patches of brown to black pigmentation that occurs on the sun-exposed areas of the face. It is a very common condition in women and is more frequently associated with hormonal changes. However, it also occurs in men although rarely. Melasma is known by several names in different languages but is commonly referred to as hormone / pregnancy / menopause pigmentation. In the past it used to be referred to as the veil or mask of pregnancy. The term chloasma is considered to be outdated as chloas– was derived from the Greek word for green, whereas melas– refers to the color black.

Melasma occurs almost exclusively in women with only 5% to 10% of melasma cases occurring in men. It can affect any race group but is more common in darker-skinned individuals with a more light brown skin. The age groups that more likely to be affected varies but it is more commonly seen in women in their reproductive years and menopause and typically in the 30s to 40s. Women who live in areas with intense sun exposure are also more likely to be affected.

Signs and Symptoms. There is a gradual development of hyperpigmentation (darkening of the skin) that arises symmetrically meaning it occurs on both sides. The dark patches are irregular in shape and more likely to occur on the cheeks, forehead, upper lip, chin and somtimes extends to the sides of the neck and shoulders. This pigmentation may present in one of three possible patterns – centrofacial (center of the face), malar (cheekbones) or mandibular (jaw). However, this does not preclude to the development of the patches on any site on the face but it is almost always symmetical (both sides).

Melasma on Face

Sat 28 Jan 2017 19:12:45 +0200

Melasma, which means skin hyperpigmentation, is a very common skin condition. According to the American Academy of Dermatology, melasma affects an estimated six million people in the United States and is more common among women than men.

Melasma interferes with the natural color of the skin and leads to the formation of brown patches on the face.

The main cause of melasma is excess melanin production in skin cells due to excessive sun exposure. However, other factors also contribute to this problem, including hormonal changes in the body, excessive stress, toxins, thyroid problems and use of birth control pills.

Often melasma is mistaken for freckles or age spots. But brown spots on the face due to melasma typically will be larger, darker and have irregular shapes.

As brown spots on the face are a beauty concern for many, there are many medicines and treatment options available in the market. Before opting for such treatments, bear in mind they may have side effects.

Instead, you can check your kitchen cupboards, spice cabinet and refrigerator for natural ingredients that can be used at home to treat melasma. These natural remedies will help you restore your skin color without side effects.

Chloasma Body

Tue 17 Jan 2017 02:34:18 +0200

Melasma is a very common patchy brown, tan, or blue-gray facial skin discoloration, almost entirely seen in women in the reproductive years. It typically appears on the upper cheeks, upper lip, forehead, and chin of women 20-50 years of age. Although possible, it is uncommon in males. It is thought to be primarily related to external sun exposure, external hormones like birth control pills, and internal hormonal changes as seen in pregnancy. Most people with melasma have a history of daily or intermittent sun exposure. Melasma is most common among pregnant women, especially those of Latin and Asian descents. People with olive or darker skin, like Hispanic, Asian, and Middle Eastern individuals, have higher incidences of melasma.

An estimated 6 million women are living in the U.S. with melasma and 45-50 million women worldwide live with melasma; over 90% of all cases are women. Prevention is primarily aimed at facial sun protection and sun avoidance. Treatment requires regular sunscreen application and fading creams.

Clinical features:
Melasma is characterized by discoloration or hyperpigmentation primarily on the face.
Three types of common facial patterns have been identified in melasma, including

centrofacial (center of the face),
malar (cheekbones),
and mandibular (jawbone).

The centrofacial pattern is the most prevalent form of melasma and includes the forehead, cheeks, upper lip, nose, and chin. The malar pattern includes the upper cheeks. The mandibular pattern is specific to the jaw.
The upper sides of the neck may less commonly be involved in melasma. Rarely, melasma may occur on other body parts like the forearms. One study confirmed the occurrence of melasma on the forearms of people being given progesterone. This was a unique pattern seen in a Native American study.

Dermal Melasma

Mon 16 Jan 2017 22:15:00 +0200

Dermal melasma is a chronic skin disorder that results in symmetrical, blotchy, brownish facial pigmentation. It can lead to considerable embarrassment and distress.

This form of facial pigmentation is sometimes called chloasma, but as this means green skin, the term melasma (brown skin) is preferred.

Melasma is more common in women than in men; only 1-in-4 to 1-in-20 affected individuals are male, depending on the population studied. It generally starts between the age of 20 and 40 years, but it can begin in childhood or not until middle age.

Melasma commonly arises in healthy, non-pregnant adults. Lifelong sun exposure causes deposition of pigment within the dermis and this often persists longterm. Exposure to ultraviolet radiation (UVR) deepens the pigmentation because it activates the melanocytes to produce more melanin.

Melasma is more common in people that tan well or have naturally brown skin (Fitzpatrick skin types 3 and 4) compared with those who have fair skin (skin types 1 and 2) or black skin (skin types 5 or 6).