Tag: Genetic disorder

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Cyst

Definition:
A cyst is a closed, saclike structure that contains fluid, gas, or semisolid material and is not a normal part of the tissue where it is located. Cysts are common and can occur anywhere in the body in people of any age. Cysts vary in size; they may be detectable only under a microscope or they can grow so large that they displace normal organs and tissues. The outer wall of a cyst is called the capsule.

Click to see the picture

Ganglion Cyst
Ganglion Cyst (Photo credit: Glenn E. Malone)

A collection of pus is called an abscess, not a cyst. Once formed, a cyst could go away on its own or may have to be removed through surgery.

Locations:
*Acne cyst – Pseudocysts associated with cystic acne. Actually an inflammatory nodule with or without an associated epidermoid inclusion cyst.
*Arachnoid cyst (between the surface of the brain and the cranial base or on the arachnoid membrane)
*Baker’s cyst or popliteal cyst (behind the knee joint)
*Bartholin’s cyst
*Breast cyst
*Buccal bifurcation cyst
*Calcifying odontogenic cyst
*Chalazion cyst (eyelid)
*Choroid plexus cyst (brain)
*Colloid cyst
*Cysticercal cyst (the larval stage of Taenia sp. (Crain’s backs))
*Dentigerous cyst (associated with the crowns of non-erupted teeth)
*Dermoid cyst (ovaries, testes, many other locations from head to tailbone)
*Epididymal cyst (found in the vessels attached to the testes)
*Ganglion cyst (hand/foot joints and tendons)
*Glandular odontogenic cyst
*Glial cyst (in the brain)
*Gartner’s duct cyst (vaginal or vulvar cyst of embryological origin)
*Hydatid cyst (larval stage of Echinococcus granulosus (tapeworm))
*Hydrocele (testicle)
*Keratocyst (in the jaws, these can appear solitary or associated with the Gorlin-Goltz or Nevoid basal cell carcinoma syndrome. *The latest World Health Organization classification considers Keratocysts as tumors rather than cysts)
*Liver cystic disease
*Meibomian cyst (eyelid)
*Mucoid cyst (ganglion cysts of the digits)
*Nabothian cyst (cervix)
*Ovarian cyst (ovaries, functional and pathological)
*Paradental cyst
*Paratubal cyst (fallopian tube)
*Periapical cyst (The periapical cyst, otherwise known as radicular cyst, is the most common odontogenic cyst.)
*Pericardial cyst
*Peritoneal cyst (lining of the abdominal cavity)
*Pilar cyst (cyst of the scalp)
*Pilonidal cyst (skin infection near tailbone)
*Renal cyst (kidneys)
*Polycystic ovary syndrome
*Pineal gland cyst
*Radicular cyst (associated with the roots of non-vital teeth, also known as Periapical cyst)
*Residual cyst
*Sebaceous cyst (sac below skin)
*Spermatocele (testicle)
*Tarlov cyst (spine)
*Trichilemmal cyst – Same as a pilar cyst. A familial cyst of the scalp.
*Vocal fold cyst

Cystic fibrosis:
Despite being described in 1938 as the microscopic appearance of cysts in the pancreas, cystic fibrosis is an example of a genetic disorder whose name is related to fibrosis of the cystic duct and does not involve actual cysts

Cystic neoplasm:
Most cysts in the body are benign (dysfunctional) tumors, the result of plugged ducts or other natural body outlets for secretions. However sometimes these masses are considered neoplasm:

*Dermoid cyst
*Keratocyst
*Calcifying odotogenic cyst

Symptoms:
Sometimes you can feel a cyst yourself when you feel an abnormal “lump.” For example, cysts of the skin or tissues beneath the skin are usually noticeable. Cysts in the mammary glands (breasts) also may be palpable (meaning that you can feel them when you examine the area with your fingers). Cysts of internal organs such as the kidneys or liver may not produce any symptoms or may not be detected by the affected individual.

Causes:
Cysts can arise through a variety of processes in the body, including

#”wear and tear” or simple obstructions to the flow of fluid,

#infections,

#tumors,

#chronic inflammatory conditions,

#genetic (inherited) conditions,

#defects in developing organs in the embryo.

Most cysts arise due to the types of conditions listed above and are only preventable to the extent that the underlying cause is preventable.

Diagnosis:
Cysts of internal organs such as the kidneys or liver may not produce any symptoms or may not be detected by the affected individual. These cysts often are first discovered by imaging studies (X-ray, ultrasound, computerized tomography or CAT scan, and magnetic resonance imaging or MRI). Cysts may or may not produce symptoms, depending upon their size and location.

Treatment:
The treatment for a cyst depends upon the cause of the cyst along with its location. Cysts that are very large and result in symptoms due to their size may be surgically removed. Sometimes the fluid contained within a cyst can be drained, or aspirated, by inserting a needle or catheter into the cyst cavity, resulting in collapse of the cyst. Radiologic imaging may be used for guidance in draining (aspirating) cyst contents if the cyst is not easily accessible. Drainage or removal of a cyst at home is not advised.

Surgical removal of a cyst is sometimes necessary. If there is any suspicion that a cyst is cancerous, the cyst is generally removed by surgery or a biopsy is taken of the cyst wall (capsule) to rule out malignancy. In certain cases, aspirated fluid from a cyst is examined under a microscope to determine if cancer cells are present in the cyst.

If a cyst arises as part of a chronic medical condition (for example, in polycystic ovary syndrome or fibrocystic breast disease), treatment is generally directed at the underlying medical condition.

Prognosis:
The majority of cysts are benign conditions and do not result in long-term or serious complications. However, cysts that are associated with malignancy or serious infections can have a poor prognosis.

Prevention:
Prevention of cyst formation is only possible to the extent to which prevention of the underlying cause of the cyst is possible. Most kinds of cysts are not preventable.

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/Cyst
http://www.medicinenet.com/cysts/article.htm

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Klinefelter’s Syndrome

Definition:
Klinefelter’s syndrome is a chromosomal abnormality that affects males who carry an extra one or more X chromosomes. Females have XX chromosomes and males have XY chromosomes. A male with Klinefelter’s would have XXY or XXXY. Because of the extra chromosome, individuals with the condition are usually referred to as “XXY Males”, or “47, XXY Males. It can lead to a variety of physical and physiological characteristics……CLICK & SEE THE PICTURES

Klinefelter syndrome is the most common sex chromosome disorder in males and the second most common condition caused by the presence of extra chromosomes. The condition exists in roughly 1 out of every 650 males.  One in every 500 males has an extra X chromosome but does not have the syndrome. Other mammals also have the XXY syndrome, including mice.

The syndrome can affect different stages of physical, language and social development .Principal effects sometimes include development of small testicles and reduced fertility. Because they often don’t make as much of the male hormone testosterone as other boys, teenagers with Klinefelter’s syndrome may have less facial and body hair and may be less muscular than other boys. They may have trouble using language to express themselves. They may be shy and have trouble fitting in.

The syndrome was named after Dr. Harry Klinefelter, who in 1942 worked with Fuller Albright at Massachusetts General Hospital in Boston, Massachusetts and first described it in the same year.

Symptoms:
XXY occurs in approximately 1 out of 1,000 live male births, but many men with it do not develop KS. When KS does develop, it usually goes undetected until puberty or sometimes much later.

Characteristics may include:

•For babies:
*Smaller birth weight and slower muscle and motor development
•For children and adults:
*Tallness with extra long arms and legs
*Abnormal body proportions (long legs, short trunk)
*Enlarged breasts (common)
*Lack of facial and body hair
*Small firm testes, small penis
*Lack of ability to produce sperm (common)
*Diminished sex drive, sexual dysfunction
*Social and learning disabilities (common)
*Personality impairment
*Attention deficit hyperactivity disorder (ADHD)
*Normal to borderline IQ
*Speech and language problems—Children with KS often learn to speak later than other children. They may have a difficult time reading and writing.

Men with KS have an increased risk of:

•Type 2 diabetes
•Breast cancer
•Lung cancer
•Cardiovascular disease
•Lung disease
•Osteoporosis
•Hypothyroidism
•Dental problems
•Leg ulcers

In contrast to these potentially increased risks, it is currently thought that rare X-linked recessive conditions occur less frequently in XXY males than in normal XY males, since these conditions are transmitted by genes on the X chromosome, and people with two X chromosomes are typically only carriers rather than affected by these X-linked recessive conditions.

There are many variances within the XXY population, just as in the most common 46,XY population. While it is possible to characterise 47,XXY males with certain body types, that in itself should not be the method of identification as to whether or not someone has 47,XXY. The only reliable method of identification is karyotype

Cause:
The extra X chromosome is retained because of a nondisjunction event during meiosis I (gametogenesis). Nondisjunction occurs with when homologous chromosomes, in the case the X and Y sex chromosomes, fail to separate, producing a sperm with an X and a Y chromosome. Fertilizing a normal (X) egg produces an XXY offspring.

The XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in about 1 in 500 live male births.

Another mechanism for retaining the extra X chromosome is through a nondisjunction event during meiosis II in the female. Nondisjunction will occur when sister chromatids on the sex chromosome, in this case an X and an X, fail to separate. An XX egg is produced which, when fertilized with a Y sperm, yields XXY offspring.

In mammals with more than one X chromosome, the genes on all but one X chromosome are not expressed; this is known as X inactivation. This happens in XXY males as well as normal XX females. However, in XXY males, a few genes located in the pseudoautosomal regions of their X chromosomes, have corresponding genes on their Y chromosome and are capable of being expressed. These triploid genes in XXY males may be responsible for symptoms associated with Klinefelter syndrome.

The first published report of a man with a 47,XXY karyotype was by Patricia A. Jacobs and Dr. J.A. Strong at Western General Hospital in Edinburgh, Scotland in 1959. This karyotype was found in a 24-year-old man who had signs of Klinefelter syndrome. Dr. Jacobs described her discovery of this first reported human or mammalian chromosome aneuploidy in her 1981 William Allan Memorial Award address

Variations:
The 48, XXYY (male) syndrome occurs in 1 in 18,000–40,000 births and has traditionally been considered to be a variation of Klinefelter syndrome. XXYY tetrasomy is no longer generally considered a variation of KS,[citation needed] although it has not yet been assigned an ICD-10 code.

Males with Klinefelter syndrome may have a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Mosaicism 47,XXY/46,XX with clinical features suggestive of Klinefelter syndrome is very rare. Thus far, only about 10 cases have been described in literature

Risk Factors:
Cases are sporadic but there’s an increased risk in the children of older mothers. Older mothers at risk may be offered pre-natal tests.

Diagnosis:
A karyotype is used to confirm the diagnosis. In this procedure, a small blood sample is drawn. White blood cells are then separated from the sample, mixed with tissue culture medium, incubated, and checked for chromosomal abnormalities, such as an extra X chromosome.

Diagnosis can also be made prenatally via chorionic villus sampling or amniocentesis, tests in which fetal tissue is extracted and the fetal DNA is examined for genetic abnormalities. A 2002 literature review of elective abortion rates found that approximately 58% of pregnancies in the United States with a diagnosis of Klinefelter syndrome were terminated

Treatment:
The genetic variation is irreversible. Testosterone treatment is an option for some individuals who desire a more masculine appearance and identity.(but testosterone replacement therapy may induce a more male appearance and reduce the risk of osteoporosis in many cases. Fertility can often be accomplished with fertility treatment.)

Often individuals that have noticeable breast tissue or hypogonadism experience depression and/or social anxiety because they are outside of social norms. This is academically referred to as psychosocial morbidity. At least one study indicates that planned and timed support should be provided for young men with Klinefelter syndrome to ameliorate current poor psychosocial outcomes.

By 2010 over 100 successful pregnancies have been reported using IVF technology with surgically removed sperm material from men with Klinefelter syndrome

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/Klinefelter’s_syndrome
http://www.bbc.co.uk/health/physical_health/conditions/klinefelter1.shtml

http://www.aurorahealthcare.org/yourhealth/healthgate/getcontent.asp?URLhealthgate=11722.html

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Kabuki Syndrome

Definition:

Kabuki syndrome is a rare disorder characterized by unusual facial features, skeletal abnormalities, and intellectual impairment. Abnormalities in different organ systems can also be present, but vary from individual to individual. There is no cure for Kabuki syndrome, and treatment centers on the specific abnormalities, as well as on strategies to improve the overall functioning and quality of life of the affected person.Kabuki syndrome appears to be found equally in males and females.

CLICK & SEE

Scientific research conducted over the past two decades suggests that Kabuki syndrome may be associated with a change in the genetic material. However, it is still not known precisely what this genetic change may be and how this change in the genetic material alters growth and development in the womb to cause Kabuki syndrome.

In Japan, it has been estimated that about one in 32,000 babies is born with Kabuki syndrome (which could mean about 50 cases a year in the UK). Although originally reported in Japan, cases have now been described around the world.

It was discovered and described in 1981 by two Japanese groups, led by the scientists Niikawa and Kuroki (hence the name). It is named Kabuki Syndrome because of the facial resemblance of affected individuals with white Kabuki makeup, a Japanese traditional theatrical form. On the Kabuki Syndrome listserv, children with this syndrome are called Kabuki Kids, or KKs.

Symptoms:
People with the syndrome have an unusual facial appearance, characterised by large eyes, long and thick eyelashes and arched eyebrows.

Infants usually have normal birth weight, but most will not grow as quickly as expected. Delay in speech and language development is very common. Many infants also have problems feeding.

Kabuki syndrome is very complex and there are many other manifestations.

Cause:
The cause is unknown – a genetic abnormality is suspected but has not yet been identified.It’s likely that if a gene is involved it’s a rare and random mutation that occurs sporadically.

Inheritance is thought to be autosomal dominant or X-linked recessive; several chromosomal abnormalities have been found, but none of them appear to be specific to Kabuki Syndrome. In August 2010, a study found that two thirds of the cases have a loss-of-function mutation in the MLL2 gene, which is coding for a histone methyltransferase; it can participate in epigenetic programming, and is thought to contribute to developmental processes.

Diagnosis
The diagnosis of Kabuki syndrome relies on physical exam by a physician familiar with the condition and by radiographic evaluation, such as the use of x rays or ultrasound to define abnormal or missing structures that are consistent with the criteria for the condition (as described above). A person can be diagnosed with Kabuki syndrome if they possess characteristics consistent with the five different groups of cardinal symptoms: typical face, skin-surface abnormalities, skeletal abnormalities, mild to moderate mental retardation, and short stature.

Although a diagnosis may be made as a newborn, most often the features do not become fully evident until early childhood. There is no laboratory blood or genetic test that can be used to identify people with Kabuki syndrome.

Treatment ;
There is no cure for Kabuki syndrome. Treatment of the syndrome is variable and centers on correcting the different manifestations of the condition and on strategies to improve the overall functioning and quality of life of the affected individual.

For children with heart defects, surgical repair is often necessary. This may take place shortly after birth if the heart abnormality is life threatening, but often physicians will prefer to attempt a repair once the child has grown older and the heart is more mature. For children who experience seizures, lifelong treatment with anti-seizure medications is often necessary.

Children with Kabuki syndrome often have difficulties feeding, either because of mouth abnormalities or because of poor digestion. In some cases, a tube that enters into the stomach is surgically placed in the abdomen, and specially designed nutritional liquids are administered through the tube directly into the stomach.

People with Kabuki syndrome are at higher risk for a variety of infections, most often involving the ears and the lungs. In cases such as these, antibiotics are given to treat the infection, and occasionally brief hospital stays are necessary. Most children recover from these infections with proper treatment.

Nearly half of people affected by Kabuki syndrome have some degree of hearing loss. In these individuals, formal hearing testing is recommended to determine if they might benefit from a hearing-aid. A hearing aid is a small mechanical device that sits behind the ear and amplifies sound into the ear of the affected individual. Occasionally, hearing loss in individuals with Kabuki syndrome is severe, approaching total hearing loss. In these cases, early and formal education using American Sign Language as well as involvement with the hearing-impaired community, schools, and enrichment programs is appropriate.

Children with Kabuki syndrome should be seen regularly by a team of health care professionals, including a primary care provider, medical geneticist familiar with the condition, gastroenterologist, and neurologist. After growth development is advanced enough (usually late adolescence or early adulthood), consultation with a reconstructive surgeon may be of use to repair physical abnormalities that are particularly debilitating.

During early development and progressing into young adulthood, children with Kabuki syndrome should be educated and trained in behavioral and mechanical methods to adapt to any disabilities. This program is usually initiated and overseen by a team of health care professionals including a pediatrician, physical therapist, and occupational therapist. A counselor specially trained to deal with issues of disabilities in children is often helpful is assessing problem areas and encouraging healthy development of self-esteem. Support groups and community organizations for people with disabilities often prove useful to the affected individuals and their families, and specially equipped enrichment programs should be sought. Further, because many children with Kabuki syndrome have poor speech development, a consultation and regular session with a speech therapist is appropriate.

Prognosis:
The abilities of children with Kabuki syndrome vary greatly. Most children with the condition have a mild to moderate intellectual impairment. Some children will be able to follow a regular education curriculum, while others will require adaptations or modifications to their schoolwork. Many older children may learn to read at a functional level.

The prognosis of children with Kabuki syndrome depends on the severity of the symptoms and the extent to which the appropriate treatments are available. Most of the medical issues regarding heart, kidney or intestinal abnormalities arise early in the child’s life and are improved with medical treatment. Since Kabuki syndrome was discovered relatively recently, very little is known regarding the average life span of individuals affected with the condition, however, present data on Kabuki syndrome does not point to a shortened life span.

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/kabuki2.shtml
http://www.healthline.com/galecontent/kabuki-syndrome-1
http://en.wikipedia.org/wiki/Kabuki_syndrome

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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).

CLICK & SEE THE PICTURES

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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Ichthyosis

Definition:

Ichthyosis (plural ichthyoses) is a heterogeneous family of at least 28, generalized, mostly genetic skin disorders. All types of ichthyosis have dry, thickened, scaly or flaky skin. In many types there is cracked skin, which is said to resemble the scales on a fish; the word ichthyosis comes from the Ancient Greek (ichthys), meaning “fish.” The severity of symptoms can vary enormously, from the mildest types such as ichthyosis vulgaris which may be mistaken for normal dry skin up to life-threatening conditions such as harlequin type ichthyosis. The most common type of ichthyosis is ichthyosis vulgaris, accounting for more than 95% of cases

CLICK & SEE THE PICTURES

Ichthyosis  is an inherited skin disorder in which dead skin cells accumulate in thick, dry scales on your skin’s surface. The scales of ichthyosis  can be present at birth, but usually first appear during early childhood. Sometimes ichthyosis  disappears entirely for most of the adult years, only to return later.

Types:
There are many types of Ichthyosis and an exact diagnosis may be difficult. Types of Ichthyosis are classified by their appearance and their genetic cause. Ichthyosis caused by the same gene can vary considerably in severity and symptoms. Some Ichthyosis don’t appear to fit exactly into any one type. Also different genes can produce Ichthyosis with similar symptoms. The most common or well-known types are as follows:

Genetic ichthyosisIchthyosis vulgaris
*X-linked ichthyosis
*Congenital ichthyosiform erythroderma (nbCIE)
*Epidermolytic hyperkeratosis (bullous ichthyosis, bCIE)
*Harlequin type ichthyosis
*Ichthyosis bullosa of Siemens
*Ichthyosis hystrix
*Ichthyosis lamellaris (lamellar ichthyosis)

Ichthyosis with additional characteristics:
*Carvajal syndrome
*CHILD Syndrome
*Conradi-Hünermann syndrome
*Darier’s disease
*Erythrokeratodermia variabilis (Erythrokeratodermia figurata variabilis, Mendes da Costa type erythrokeratodermia)
*IFAP syndrome (Ichthyosis follicularis)
*Keratitis-ichthyosis-deafness syndrome
*Netherton syndrome
*Neutral lipid storage disease (Dorfman-Chanarin syndrome)
*Refsum’s disease
*Rud syndrome
*Senter syndrome
*Sjögren-Larsson syndrome
*Tay syndrome (IBIDS syndrome, Trichothiodystrophy)

Non-genetic ichthyosisIchthyosis
*acquisita

Most cases of ichthyosis  are mild, but some are severe. Sometimes other skin diseases are associated with ichthyosis vulgaris, such as the rash-producing atopic dermatitis. No cure has been found for ichthyosis , and treatments focus on controlling the condition.

Symptoms:
In ichthyosis vulgaris, the skin cells are produced at the standard rate, but don’t separate normally as they reach the skin’s surface. This means skin cells aren’t shed as quickly as they should be, leading to a build-up of cells, which appear as scales. Just one or a few areas are usually affected, often the legs or lower body.


The face isn’t usually affected but, when it is, the scaling is usually limited to the forehead and cheeks. The scales are typically fine and white.

Most babies with ichthyosis vulgaris don’t have any sign of the condition when they’re newly born. But within the first year, skin abnormalities begin to develop.

The dry, scaly skin may then become a chronic, lifelong problem, although it can vary dramatically with age, weather and other factors. It often improves in the summer, for example, and also tends to get better with age.

Causes:
Ichthyosis vulgaris is characterized by chronic, excessive buildup of the protein in the upper layer of the skin (keratin). This buildup is a result of your skin’s natural shedding process being slowed or inhibited.


Ichthyosis vulgaris is most often caused by a genetic mutation, inherited in an autosomal dominant pattern. That means a child has to inherit only one copy of the affected gene to develop the disease. Children with the inherited form of the disorder usually have normal skin at birth, but develop scaling and roughness during the first few years of life. At times, ichthyosis vulgaris may disappear during the adult years, only to return later.

Ichthyosis not caused by genetic abnormalities, referred to as acquired ichthyosis, is rare. This type usually shows up in adulthood. It’s usually associated with other diseases, such as cancer, thyroid disease or chronic renal failure.

Complications:
Ichthyosis can affect more than the appearance of your skin; it can affect your skin’s ability to function normally. As a result, some people with ichthyosis may experience:

*Overheating. In rare cases, ichthyosis interferes with sweating. Skin thickness and scales prevent sweat from reaching the surface of your skin, which inhibits cooling.

*Secondary infection. Skin splitting and cracking may lead to infections, either on your skin or a wider infection in your body.

Diagnosis:
A physician often can diagnose ichthyosis by looking at the skin. A family history is very useful. In some cases, a skin biopsy is done to help to confirm the diagnosis. In a biopsy, a small piece of skin is removed and examined under a microscope. In some instances, genetic testing may be helpful in making a diagnosis. Diabetes has not been linked to acquired ichthyosis or ichthyosis vulgaris.

Ichthyosis is not more or less common in any ethnic group. As of now, there is no way to prevent ichthyosis since it is often of a genetic nature.

Treatments:
There are two main aims of treatment for ichthyosis:

•Keeping the skin moisturised and supple – the main aim is to prevent cracks from forming in the skin as these can allow micro-organisms to penetrate the barrier of the skin and so infection to establish. This is done using moisturising creams, and baths and lotions called emollients.

•Removing some of the layers of skin cells, either by mechanical means (rubbing gently with a pumice) or by treatments such as alpha hydroxy acids (AHAs), which help to break up the chemical ‘cement’ that glues skin cells together.
There may be other treatments aimed at the cause of ichthyosis if this can be identified – for example correcting nutritional deficiencies, stopping or changing medication or treating hormonal problems.
Life Style & Home Care:
Although self-help measures won’t cure ichthyosis, they may help improve the appearance and feel of damaged skin.  These measures can be considered to help:

*Take long soaking baths to soften the skin. Then use a rough-textured sponge, such as a loofa sponge, to remove the thickened scales.

*Choose mild soaps that have added oils and fats. Avoid deodorant and antibacterial soaps, which are especially harsh on dry skin.

*After showering or bathing, gently pat or blot your skin dry with a towel so that some moisture remains on the skin.

*Apply moisturizer or lubricating cream while your skin is still moist from bathing. Choose a moisturizer that contains urea or propylene glycol — chemicals that help keep your skin moist. Petroleum jelly is another good choice. Cover the treated areas with plastic wrap to keep the petroleum jelly from staining clothes and furniture.

*Apply an over-the-counter product that contains urea, lactic acid or a low concentration of salicylic acid twice daily. Mild acidic compounds help your skin shed its dead skin cells. Urea helps bind moisture to your skin.

*Use a portable home humidifier or one attached to your furnace to add moisture to the air inside your home.

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.mayoclinic.com/health/ichthyosis-vulgaris/DS00734
http://www.beltina.org/health-dictionary/ichthyosis-treatment-severe-diagnosis.html
http://en.wikipedia.org/wiki/Ichthyosis
http://www.bbc.co.uk/health/physical_health/conditions/ichthyosis.shtml

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