Categories
Ailmemts & Remedies

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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Categories
Ailmemts & Remedies

Gorlin syndrome

Alternative Names:Nevoid basal cell carcinoma syndrome (NBCCS),basal cell nevus syndrome, multiple basal cell carcinoma syndrome and Gorlin–Goltz syndrome

Definition:
Gorlin syndrome is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancers.

You may click to see more pictures of  Gorlin syndrome

People with the syndrome have a predisposition to multiple basal cell carcinomas (a form of skin cancer), jaw cysts and other generally harmless abnormalities in the bone. The severity of the disease can be wide-ranging.

About 10% of people with the condition do not develop basal cell carcinomas (BCCs). the name Gorlin syndrome refers to researcher Robert J. Gorlin (1923–2006).

First described in 1960, NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal cell carcinoma, a malignant type of skin cancer. The prevalence is reported to be 1 case per 56,000-164,000 population. Recent work in molecular genetics has shown NBCCS to be caused by mutations in the PTCH (Patched) gene found on chromosome arm 9q. If a child inherits the defective gene from either parent, he or she will have the disorder

Incidence:
About 750,000 new cases of sporadic basal cell carcinomas (BCCs) occur each year in the United States. Ultraviolet (UV) radiation from the sun is the main trigger of these cancers, and people with fair skin are especially at risk. Most sporadic BCCs arise in small numbers on sun-exposed skin of people over age 50, although younger people may also be affected. By comparison, NBCCS has an incidence of 1 in 50,000 to 150,000 with higher incidence in Australia. One aspect of NBCCS is that basal cell carcinomas will occur on areas of the body which are not generally exposed to sunlight, such as the palms and soles of the feet and lesions may develop at the base of palmer and plantar pits. One of the prime features of NBCCS is development of multiple BCCs at an early age, often in the teen years. Each person who has this syndrome is affected to a different degree, some having many more characteristics of the condition than others.

Components:-
Some or all of the following may be seen in someone with Gorlin Syndrome:

1.Multiple basal cell carcinomas of the skin
2.Odontogenic keratocyst: Seen in 75% of patients and is the most common finding. There are usually multiple lesions found in the mandible. They occur at a young age (19 yrs average).
3.Rib and vertebrae anomalies
4.Intracranial calcification
5.Skeletal abnormalities: bifid ribs, kyphoscoliosis, early calcification of falx cerebri (diagnosed with AP radiograph)
6.Distinct faces: frontal and temporopariental bossing, hypertelorism, and mandibular prognathism

What genes are related to Gorlin syndrome?
Mutations in the PTCH1 gene cause Gorlin syndrome. This gene provides instructions for making a protein called Patched-1, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. A protein called Sonic Hedgehog is the ligand for the Patched-1 receptor. Patched-1 prevents cell growth and division (proliferation) until Sonic Hedgehog is attached.

The PTCH1 gene is a tumor suppressor gene, which means it keeps cells from proliferating too rapidly or in an uncontrolled way. Mutations in this gene prevent the production of Patched-1 or lead to the production of an abnormal version of the receptor. An altered or missing Patched-1 receptor cannot effectively suppress cell growth and division. As a result, cells proliferate uncontrollably to form the tumors that are characteristic of Gorlin syndrome.

You may click to learn more about the PTCH1 gene.

How do people inherit Gorlin syndrome?
Gorlin syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the features that are present from birth, such as large head size and skeletal abnormalities. An affected person often inherits a PTCH1 mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. For tumors to develop, a mutation in the other copy of the PTCH1 gene must occur in certain cells during the person’s lifetime. Most people who are born with one PTCH1 mutation eventually acquire a second mutation in certain cells and develop basal cell carcinomas and other tumors.

Causes:-
Gorlin syndrome is an autosomal dominant condition. The abnormal gene is found on chromosome 9. New mutations (where neither parent carries the gene) are common.

Diagnosis:
Diagnosis of NBCCS is made by having 2 major criteria or 1 major and 2 minor criteria.

The major criteria consist of the following:

1.more than 2 BCCs or 1 BCC in a person younger than 20 years;
2.odontogenic keratocysts of the jaw
3.3 or more palmar or plantar pits
4.ectopic calcification or early (<20 years) calcification of the falx cerebri
5.bifid, fused, or splayed ribs
6.first-degree relative with NBCCS.

.
The minor criteria include the following:

1.macrocephaly.
2.congenital malformations, such as cleft lip or palate, frontal bossing, eye anomaly (cataract, colobma, microphtalmia, nystagmus).
3.other skeletal abnormalities, such as Sprengel deformity, pectus deformity, polydactyly, syndactyly or hypertelorism.
4.radiologic abnormalities, such as bridging of the sella turcica, vertebral anomalies, modeling defects or flame-shaped lucencies of hands and feet.
5.ovarian and cardio fibroma or medulloblastoma (the latter is generally found in children below the age of two).
People with NBCCS need education about the syndrome, and may need counseling and support, as coping with the multiple BCCs and multiple surgeries is often difficult. They should reduce UV light exposure, to minimize the risk of BCCs. They should also be advised that receiving Radiation therapy for their skin cancers may be contraindicated. They should look for symptoms referable to other potentially involved systems: the CNS, the genitourinary system, the cardiovascular system, and dentition.

Genetic counseling is advised for prospective parents, since one parent with NBCCS causes a 50% chance that their child will also be affected.

Treatment:
Although there’s no cure, the carcinomas can be treated by surgery, lasers or photodynamic therapy, which reduces scarring.

If there’s a family history of the syndrome, it’s possible for family members to be tested to see if they carry the faulty gene.

Those with Gorlin syndrome are now advised to avoid – or to take advice before undergoing – any radiation treatment, as it’s thought it may exacerbate the condition.

Treatment is usually supportive treatment, that is, treatment to reduce any symptoms rather than to cure the condition.

*Enucleation of the odontogenic cysts can help but new lesions, infections and jaw deformity are usually a result.
*The severity of the basal cell carcinoma determines the prognosis for most patients. BCCs rarely cause gross disfigurement, disability or death .

*Genetic counseling

Advice and support:-
•Gorlin Syndrome Group
•Tel: 01772 496849
•Email: info@gorlingroup.org
•Website: www.gorlingroup.org

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/gorlinsyndrome1.shtml
http://en.wikipedia.org/wiki/Nevoid_basal_cell_carcinoma_syndrome
http://ghr.nlm.nih.gov/condition/gorlin-syndrome
http://dermnetnz.org/systemic/gorlins.html

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