A surgeon, who can correct deformity, scars and disfigurement caused by accidents, birth defects and treat diseases like skin cancer (melanoma), is called a plastic surgeon. A plastic surgeon also performs surgeries purely based on cosmetic purposes, e.g. rhinoplasty. The first plastic surgeon of the U.S. was Dr. John Peter Mettauer who performed his first surgery of cleft palate in the year 1827. Plastic surgeons perform various levels of surgeries on human body to beautify and restructure it. The main surgeries performed by plastic surgeons:
Reconstructive surgeries: The most common surgeries in the reconstructive section are breast reconstruction, palate surgery, cleft lip, surgery for patients suffering from burns called contracture surgery. Another technique called microsurgery is performed where tissue is transferred from one place to another where tissue is damaged and needs replacement.
Cosmetic surgery: The most famous and common surgery in the area of plastic surgery is cosmetic surgery and is performed purely from beautification point of view. Cosmetic surgery also known as aesthetic surgery is done just to enhance the beauty of any part and may possibly be a reconstructive surgery. The surgery improves the beauty or looks of any part of the body and is usually referred with the name of that particular part of the body. For e.g. Abdominoplasty (tummy tuck - reconstruction of the abdomen), Blepharoplasty (eyelid surgery) - application of permanent eyeliner or reshaping the eyelids.
Cosmesis: Another common procedure called as cosmesis is a blend of reconstructive plastic surgery and cosmetic plastic surgery. In the process of reconstructive surgery, cosmetic surgery techniques are utilized thus improving cosmesis.
In addition to these branches of plastic surgery, there are also surgeries such as craniofacial surgery - mainly dealing with pediatric deformities, maxillofacial surgery - improvement of the jaw and the face.
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Anencephaly is a rare birth defect in which major parts of the brain, scalp and skull of the fetus fail to develop completely. Anencephaly is a type of neural tube defect wherein the neural tube which is flat initially and later folds and closes together to form a tube, fails to close.
Infants with Anencephaly are born without cerebrum or cerebellum responsible for thinking and coordination. However they do have brain stem that allows them to breathe and their hearts to beat. Whatever brain tissue that develops, often is not covered by bone or skin. Babies born with Anencephaly are often still born or die within few hours or days of birth.
The exact causes of Anencephaly are not known. However it is proven that the deficiency of folic acid prior to and during pregnancy may increase the chances of neural tube defects. Pregnant women taking certain prescription drugs for diabetes and anti depressants are also at higher risk of giving birth to anencephalic babies. Some of the other factors that may put the expectant mother at risk are environmental pollution, exposure to household chemicals especially those containing teratogens substances, or other toxins. Anencephaly does not run in families; it results from a combination of genes inherited from both sides coupled with environmental factors.
Newborns with Anencephaly are born without bony covering over the back of the head and also around the front and sides of the head. Their ears are normally folded and their mouth has a cleft palate. Due to the absence of cerebrum, the baby stays in a vegetative state.
Anencephaly is diagnosed as early as at 11-14th week of pregnancy, with certainty by performing ultrasound scan. The condition is also suspected when a pregnant mother's serum test reveals elevated alphafetoprotein (AFP)levels. Higher levels of AFP are only indicative of neural tube diseases, but does not in any way, confirm the condition. Hence further tests such as amniocentesis along with high definition ultrasound are ordered to confirm the condition.
If the prenatal test, for any reason, is missed and the fetus survives the term, the very appearance of the infant allows the medical team to diagnose Anencephaly. A large portion of the skull of the infant will be absent and the scalp, which extends to the margin of the bone will also be missing with no recognizable cerebral hemispheres. Often acrania is another similar condition which is confused with Anencephaly.
There is no cure or treatment available for Anencephaly. These babies do not have chances of survival beyond few hours or days. Parents may require counseling services to cope up with the loss of their child.
A rare hormonal condition characterized by delayed or absence of puberty and an impaired sense of smell is Kallmann syndrome. This belongs to a larger group of conditions known as hypogonadotrophic hypogonadism. This condition is usually characterized by a failure to start or fully complete puberty. However hypogonadotrophic hypogonadism can be treated successfully by means of specialized hormone replacement therapy.
It is estimated that this syndrome affects 1 in 10,000 to 86,000 people and occurs more often in males rather than in females. Kallmann Syndrome 1 is the most common form of this condition. It was Franz Kallmann, an American scientist who first published a paper in 1914 about this syndrome. Therefore this genetic condition is named after him.
Characteristics of Kallmann Syndrome
Males with hypogonadotrophic hypogonadism are born with unusually small penis and undescended testes. Whereas, females affected, usually do not begin menstruating at puberty and have little or no breast development at all. In some women, puberty is either incomplete or delayed. In short, at puberty those affected do not develop secondary sexual characteristics.
In Kallmann syndrome, the sense of smell is particularly diminished or completely absent. This feature indeed distinguishes this syndrome from most other forms of hypogonadotrophic hypogonadism.
The significant aspect here is that most patients are not aware of this inability to detect odors until they are diagnosed. Some points to remember:
Inability to smell strong warning smells such as smoke or gas.
Inability to smell caustic products such as bleach.
Inability to smell rotten/spoilt food.
Personal hygiene, body odor and clothes.
Since the sense of smell is also linked to the sense of taste, some foods will not taste the same as with other people.
Signs and Symptoms
Kallmann Syndrome, even within the same family may vary in its features. Some additional symptoms and signs may include failure of one kidney to develop, a cleft lip with or without an opening in the roof of the mouth or a cleft palate, abnormal eye movements, hearing loss and abnormalities in tooth development.
In some affected persons, the movements of one hand are mirrored by the other hand - Bimanual Synkinesis. This can make it difficult to undertake tasks that require the hands to move separately such as playing a musical instrument. Kallmann syndrome has types designated from 1 through 4 distinguished by their genetic cause. The four types are identified as four forms of Kallmann syndrome, each characterized by an impaired sense of smell. Additional features of cleft palate occur only in types 1 and 2.
Kallmann syndrome and other related conditions are congenital in nature and are present from birth. Their genetic basis may not be fully understood and this syndrome can be inherited through the generations although it is difficult for the doctor to predict if this will occur.
The genetic factor: Certain mutations in the KAL1, FGFR1, PROKR2, and PROK2 genes cause Kallmann syndrome. Mutations in FGFR1 gene causes syndrome type 2 and mutations in PROKR2 and PROK2 cause Kallmann syndromes types 3 and 4 respectively.
These genes seem to play a role in the development of the brain much before birth. They are involved in the formation and movement of a group of nerve cells that are specialized in olfactory or smell process. The mutations KAL1, FGFR1, PROKR2, and PROK2 genes which play a role in the migration of neurons that produce a hormone called GnRH – Gonodotropin releasing hormone that controls several other hormones that direct sexual development before birth and during puberty. These hormones are necessary for the normal functioning of the ovaries in women and testes in men. These mutations disrupt the olfactory nerve cells and GnRH producing nerve cells in the brain. However these conditions and features vary among individuals and thus additional genetic and environmental factors may be involved.
Without proper treatment, the affected female is likely to face infertility and have an increased risk of developing osteoporosis or brittle bones. However, with correct diagnosis and treatment, fertility can be achieved in many cases and risk of osteoporosis decreased.
Following clinical examination, certain biochemical parameters and various imaging tests are done to confirm the diagnosis. As this is a genetic condition, testing for various genetic forms of this disease may also assist in making the diagnosis.
Initially hormone replacement therapy - testosterone in males and estrogen and progesterone in females is used to help induce secondary sexual characteristics.
Once pubertal maturation happens, for fertility either injection of pituitary hormones – gonadotropins, LH and FSH and in some instances therapy with synthetic peptide, GnRH is given. Deficiency of these hormones causes syndromes, and these are required to induce the sex organs to make sperm in males and eggs in females.
In females, the steps taken may vary depending upon individuals and the desired outcome. In premenopausal women, a step-by-step increase in estrogen dosage is given. A bone scan is done to assess the bone age. Without the presence of estrogen, the bone age will be behind that normally seen at that chronological age. The aim is to match the estrogen dosage to the bone age such that the development of bone can be enhanced. The doctor usually monitors the stage of treatment very closely.
Specialist fertility treatments are available and these can induce a certain level of fertility. The aim is to produce hormones by the pituitary and hypothalamus glands and induce natural production of sex hormones. Results can take 6 to 18 months but it is possible to induce fertility in some cases.
There are various drugs available which are usually self-injected twice or thrice a week over a period of at least six weeks. To combat the risk of osteoporosis, it becomes necessary to take tablets that reduce the risk. These tablets help increase the calcium uptake by the bones to strengthen them. However, medication will not eliminate the risk of osteoporosis.
Early diagnosis, education, personal outlook and support from family and friends can help reduce the problems surrounding this syndrome. Kallmann syndrome is usually lifelong in nature and about 10-15% of patients may experience recovery of hormonal system.
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Diseases, Symptoms, Tests and Treatment arranged in alphabetical order:
Bibliography / Reference
Collection of Pages - Last revised Date: July 24, 2021