Dariers Disease

Close-up of the skin of a patient with Darier's disease (keratosis follicularis). This hereditary (genetic) skin disorder is characterised by the eruption of small greasy pimples usually found on the torso and head.

Darier disease is also known as ‘keratosis follicularis. Darier’s disease affects both men & women. It is not catching or due to an allergy, it runs in certain families. Darier’s disease is hereditary and dominant. This disease may occur during or later than the teenage years. The disease affects the outermost layer of the skin, the epidermis, which thickens around the hair follicles. These lesions become darker over time and commonly fuse, forming papillomatous and warty malodorous growths. The skin cells (keratinocytes) stick together via structures called desmosomes and it seems the desmosomes do not assemble properly if there is insufficient calcium. Darier’s disease is hereditary and dominant. This disease may occur during or later than the teenage years.

Signs and symptoms of Darier’s disease vary between individuals. First signs of the condition usually appear somewhere between the ages of 6 and 20, but it may begin when people are older or rarely younger. In case of an affected individual the severity of the disease can fluctuate over time. The lesions of the skin are characterised by greasy and scaly papules which tend to occur over the seborrhoeic areas of the face, neck, back and central chest. Widespread infection of the skin the skin with the herpes simplex (coldsore) virus is a well recognised complication. This can cause a severe flare and patients can feel quite unwell. Treatment is required only if there are troublesome symptoms.

The main treatment of the dariers disease is protection from the heat or sunlight. If symptoms are particularly severe then a trial of an oral retinoid medication such as acitretin or isotretinoin may be effective. Ciclosporin has been reported to be effective in a few patients. Secondary bacterial infection should be treated with antibiotics, and herpes simplex with antiviral agents. Properly during summer it is necessary to use sunscreen, cool clothing & avoidance of hot environments which helps to protect from heat. There are some surgical methods available such as electrosurgery, mohs micrographic surgery and another is dermabrasion. There is no medical cure for dariers disease but drug like accutane may be useful.

Dariers Disease -Prevention and Treatment Tips

1. Selection of the right clothing to avoid heat and sweating are usually sufficient.

2. Properly during summer it is necessary to use sunscreen.

3. Ciclosporin is also effective treatment for dariers disease.

4. Oral retinoid medication such as acitretin or isotretinoin may be effective.

5. Topical 5-fluorouracil has been used effectively in a few patients.

6. Oral contraceptives have been reported to help with perimenstrual DD flares

7. Etretinate has been reported useful if acitretin fails.

Acid Reflux – Is GERD a Hereditary Disease?

109The question of acid reflux being a hereditary condition has not been researched very often. However, specialists have concluded that genetically speaking the chances of getting this disease by inheritance may account for 50% of the
sufferers. They have also concluded so far that the other 50% is due to diet. Of all the digestive diseases in the world, acid reflux is considered to be the
most common. It is estimated that nearly 1 in 5 people suffer from acid being regurgitated into the mouth and esophagus and/or heartburn. It is also known that a regular cycle of acid reflux occurrences gives people a higher risk of getting esophageal cancer.

In July 2003, scientists did studies with 2000 pairs of non-identical and identical twins, and found that 43% of the total who suffered frequent gastrointestinal symptoms and the chances of them developing acid reflux, were suffering or would suffer do to hereditary genetics. However, whether acid reflux is hereditary or not, there are other main causes. It is known that there are at a minimum of ten possible considerations.

Coffee, tea and other caffeinated beverages account for the first possible cause. These trigger problems by relaxing the digestive system and let the stomach’s contents to regurgitate into the esophagus.

The second possibility is chocolate which contains known amounts of theobromine. This can relax the esophageal sphincter, allowing stomach acid to spurt back into the esophagus. Fatty and fried foods are another possible culprit. Such foods stay in the stomach a lot longer and reduce the speed of digestion. This causes over-filling of the stomach and the risk of food regurgitation.

Tomatoes and foods containing tomatoes can also cause acid reflux. Again,
tomatoes and the like will relax the digestive system. Alcohol helps to increase the amount of acid in the stomach. It also relaxes the digestive system, greatly increases the risks. Another troublemaker is tobacco smoking. As cigarette chemicals enter the lungs and the blood, they also impede on the ability of the digestive system and esophagus to work properly.

Meal sizes are a critical factor. Too large a meal over fills the stomach and can prevent the esophageal sphincter (lower) from closing. Again, the chance of regurgitating food into the esophagus increases. Citric juices and fruits can relax the lower esophagael sphincter. It can also add further acid to the stomach.

Food consumption in the few hours before going to bed is a definite trigger. Once you lie down with a full stomach the pressure is increased on the lower esophageal sphincter. Finally, tight fitting clothes and belts can impede on digestion. Anything that puts pressure on the abdominal area will do the same to the stomach. This will force food out of the stomach and into the esophagus.

Classification of Hereditary and Genetic Disorders

108Genetic disorder are either hereditary disorders or a result of mutations. Some disorders may confer an advantage, at least in certain environments. There are a number of pathways to genetic defects, the simplest of which are summarized below.

There are genetic disorders caused by the abnormal chromosome number, as in Down syndrome (three instead of two “number 21” chromosomes, therefore a total of 47).
Triplet expansion repeat mutations can cause fragile X syndrome or Huntington’s disease, by modification of gene expression or gain of function, respectively.

Defective genes are often inherited from the parents. In this case, the genetic disorder is known as a hereditary disease. This can often happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant.

Currently around 4,000 genetic disorders are known, with more being discovered. Most disorders are quite rare and affect one person in every several thousands or millions. Cystic fibrosis is one of the most common genetic disorders; around 5% of the population of the United States carry at least one copy of the defective gene.

Terms you should know:

GENE: A small segment of DNA that codes for the synthesis of a specific protein. Genes are located on the chromosomes. Examples: ABO blood group gene, Rh blood group gene.

CHROMOSOMES: genes for the same traits, in the same order.

LOCUS: Position or location of a gene on a chromosome.

ALLELE: Refers to the different forms of a gene at one locus.

GENOTYPE: The specific pair of alleles present at a single locus. This are features seen genetically but may or may not have phenotypic (observable) characteristics.

PHENOTYPE: The clinical features or the observable characteristics of an individual determined by a pair of genes at a given locus (or genotype). The phenotype can vary following interaction with modifying genes or the environment.

PENETRANCE: The frequency with which individuals carrying a given gene will show the clinical manifestations associated with the gene.

DOMINANT: A gene (allele) which is expressed clinically in the heterozygous state. In a dominant disorder only one mutant allele need be present as it covers up, or masks, the normal allele.

RECESSIVE A gene (allele) which is only expressed clinically in the homozygous state i.e. it can be suppressed if present with a dominant gene and will not show it’s character in presence of a dominant gene. In a recessive disorder, both genes at a given locus must be abnormal to manifest the disorder

Types of Genetic Disorders

1 Single gene disorders including Mendelian Disorders (i.e, follow mendelian order of inheritance i.e. Autosomal and X-linked and Y-linked) and Non-Mendelian disorders (i.e, do not follow mendelian order of inheritance e.g. mitochondrial inheritance)

2 Multifactorial and polygenic disorders

3 Disorders with variable modes of transmission

4 Cytogenetic disorder: including autosomal disorders and sex chromosome disorders.

I] Single gene disorders

Where genetic disorders are the result of a single mutated gene they can be passed on to subsequent generations in the ways outlined in the table below. Genomic imprinting and uniparental disomy, however, may affect inheritance patterns. The divisions between recessive and dominant are not “hard and fast” although the divisions between autosomal and X-linked are (related to the position of the gene).

For example, achondroplasia is typically considered a dominant disorder, but young goats or children with two genes for achondroplasia have a severe skeletal disorder that achondroplasics could be viewed as carriers of. Sickle-cell anemia is also considered a recessive condition, but carriers that have it by half along with the normal gene have increased immunity to malaria in early childhood, which could be described as a related dominant condition.

Subclasses of single gene disorders are as follows:

Autosomal dominant Only one mutated copy of the gene is needed for a person to be affected by an autosomal dominant disorder. Each affected person usually has one affected parent. There is a 50% chance that a child will inherit the mutated gene. Conditions that are autosomal dominant have low penetrance, which means that, although only one mutated copy is needed, a relatively small proportion of those who inherit that mutation go on to develop the disease, often later in life.

E.g. Huntingtons disease, Neurofibromatosis 1, Marfan Syndrome.

Autosomal recessive Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Two unaffected people who each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder. E.g. Cystic fibrosis, Sickle cell anemia, Tay-Sachs disease, Spinal muscular atrophy.

X-linked dominant X-linked dominant disorders are caused by mutations in genes on the X chromosome. Only a few disorders have this inheritance pattern. Males are more frequently affected than females, and the chance of passing on an X-linked dominant disorder differs between men and women. The sons of a man with an X-linked dominant disorder will not be affected, and his daughters will all inherit the condition. A woman with an X-linked dominant disorder has a 50% chance of having an affected daughter or son with each pregnancy. Some X-linked dominant conditions, such as Aicardi Syndrome, are fatal to boys, therefore only girls have them (and boys with Klinefelter Syndrome).

E.g Hypophosphatemia, Aicardi Syndrome,

X-linked recessive X-linked recessive disorders are also caused by mutations in genes on the X chromosome. Males are more frequently affected than females, and the chance of passing on the disorder differs between men and women. The sons of a man with an X-linked recessive disorder will not be affected, and his daughters will carry one copy of the mutated gene. With each pregnancy, a woman who carries an X-linked recessive disorder has a 50% chance of having sons who are affected and a 50% chance of having daughters who carry one copy of the mutated gene.

E.g Hemophilia A, Duchenne muscular dystrophy, Color blindness, Muscular dystrophy, Androgenetic alopecia and also includes G-6-PD (Glucose-6-phosphate dehydrogenase) deficiency.

Y-linked Y-linked disorders are caused by mutations on the Y chromosome. Only males can get them, and all of the sons of an affected father are affected. Since the Y chromosome is very small, Y-linked disorders only cause infertility, and may be circumvented with the help of some fertility treatments.

E.g.Male Infertility

Mitochondrial This type of inheritance, also known as maternal inheritance, applies to genes in mitochondrial DNA. Because only egg cells contribute mitochondria to the developing embryo, only females can pass on mitochondrial conditions to their children.

E.g. Leber’s Hereditary Optic Neuropathy (LHON)

II] Multifactorial and polygenic disorders

Genetic disorders may also be complex, multifactorial or polygenic, this means that they are likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. Multifactoral disorders include heart disease and diabetes. Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance. This makes it difficult to determine a person’s risk of inheriting or passing on these disorders.

Complex disorders are also difficult to study and treat because the specific factors that cause most of these disorders have not yet been identified. On a pedigree, polygenic diseases do tend to “run in families”, but the inheritance does not fit simple patterns as with Mendelian diseases. But this does not mean that the genes cannot eventually be located and studied. There is also a strong environmental component to many of them (e.g., blood pressure).

E.g Gout: It is a genetic/acquired disorder of uric acid metabolism that leads to hyperuricemia and consequent acute and chronic arthritis. The recurrent but transient attacks of acute arthritis are triggered by the precipitation of monosodium urate crystals into joints from supersaturated body fluids which accumulate in and around the joints and other tissues causing inflammation.

Cause of gout: Unknown enyme defects or known enzyme defects leading to overproduction of uric acid like partial deficiency of hypoxanthine guanine phosphoribosyl transferase (HGPRT) enzyme (as person lacks the genes to produce this enzyme). Also high dietary intake of purines as in pulses, as purines are metabolized to uric acid. Thus it has both a genetic (due to enzyme malfunction) and environmental predisposition(such as diet) and hence multifactorial.
Other examples are

heart disease, hypertension, diabetes, obesity, cancers.

III]Disorders With Variable Modes of Transmission:

Heredity malformations are congenital malformations which may be familial and genetic or may be acquired by exposure to teratogenic agents in the uterus. Heredity malformations are associated with several modes of transmission. Some multifactorial defects are cleft lip, congenital heart defects, pyloric stenosis etc. Certain congenital malformations are either multifactorial or by a single mutant gene (thus a different class of their own).

E.g. Ehlers-Danlos Syndrome: It is characterized by defects in collagen synthesis and structure. These abnormal collagen fibres lack adequate tensile strength and hence the skin is hyperextensible and the joints are hypermobile. Causes include either of the following- deficiency of the enzyme lysyl hydroxylase, deficient synthesis of type 3 collagen due to mutations in their coding genes, and deficient conversion of procollagen type 1 to collagen due to mutation in the type 1 collagen gene.

IV]Cytogenetic Disorders:

These may be from alterations in the number or structure of the chromosomes and may affect autosomes or sex chromosomes.

E.g. Fragile X chromosome. It is characterized by mental retardation and an inducible cytogenetic abnormality in the X chromosome. It is one of the most common causes of mental retardation. The cytogenetic alteration is induced by certain culture conditions and is seen as a discontinuity of staining or constriction of in the long arm of the X-chromosome.

Other disorders include Down’s Syndrome in which the number of chromosomes is increased by a third “21st chromosome” and hence a total of 47 chromosomes occur.

Breast Cancer

116The rare breast cancer disease – Paget’s disease (Paget’s disease of the nipple or Mammary Paget’s disease) is often confused with the two common skin conditions eczema and psoriasis. All which are very similar, and which often force doctors to send their patients to specialists for correct diagnosis.

However, there are certain detectable differences between both Paget’s disease and other skin conditions that many women can look for when self-checking the breasts for cancer. Usually common skin conditions that affect the breasts are nothing to be worried about; however, with Paget’s disease, it is different.

1. Eczema – is a relatively common skin complain; although, it is considered a chronic inflammatory condition of the skin that consists of dry skin with red patches, together with an often itchy sensation that tends to provoke the condition to become worse when scratched (eczema rarely affects the nipple).

2. Psoriasis – is similar to eczema, but with patches of raised skin that are usually red in color, together with thick silvery scales (often considered a more hereditary disease [one in every two psoriasis cases is usually hereditary]) that appears on the skin (doctors are still unable to explain what causes it).

3. Paget’s disease – can affect both men and women (men in more extreme cases), and is considered a rather deadly form of cancer. Not only is the disease dangerous in itself, but 50% of women who suffer from it are also diagnosed with having one or more breast tumors (ductal carcinoma in-situ, or invasive breast cancer [stages I – III]) within the same breast where the disease is present.

Symptoms – are usually in the form of a red scaly rash that affects the nipple (an extension to the areola [the dark skin circle around the nipple] may often be present too) that may itch or burn. With Paget’s disease – malignant cells are usually present in the epidermis (the surface layer of skin) of both the areola, and the nipple (malignant cells may be found either singularly or formed in small groups).

Also an inverted nipple (pulled inwards) together with a nipple discharge are both common signs that a rash is more than just a common skin complaint. However, in comparison with the disease and more common skin complaints, it usually only affects one breast (most skin complains affect the two breasts).

The three main dangers of Paget’s disease are as follows:

1. Is because Paget’s disease is so similar to both eczema and psoriasis; it may well get mis-diagnosed.

2. It is because of the presence of malignant (cancerous) cells.

3. Around 50% of women sufferers may also be diagnosed with tumors of the breast.

Note: All three of these dangers may result in either a woman losing a breast, or becoming just another statistic of breast cancer fatality. Regular self-checks are seen prudent for early diagnosis of breast cancer. Any doubt (even minor) over anything unusual found: within, on, or around (the nipple area) the breast, being put to rest by an early consultation with either a doctor or health adviser.

Indication of Strictly Female Anatomical Diseases in Astrology

115The strictly female anatomical organs include the ovaries, uterus, cervix, fallopian tubes, vagina, vulva and the breast.

The primary function of these organs is the reproduction; disorders affecting these organs may often result in infertility and impotency.

Female anatomical disorders are very common; many women will develop the symptoms of one or more of them during their lifetime.

Causes of female disorders: Age, genetic factors, hereditary factors, sexually transmitted diseases, hormone imbalance, infections, malnutrition and obesity.

Early astrological detection is imperative in the success rate of recognizing and treating all female disorders.

Factors responsible for female disorders

· Ascendant: general vitality

· 6th house: diseases

· Venus /7th house/ sign Libra: indication of uterus and ovaries, inflammation of uterus and ovaries diseases of ovaries, venereal complaints, typhoid, diseases of generative organs, diabetes, hormonal disorder genital troubles, venereal diseases the internal parts of the generative organs, produces complaints caused by excesses sexual pleasures.

· Moon/ 4th house:Moon: Brest, womb, blood, glandular system, tumours, female reproductive organs,diabetes, anaemia, nervous, asthma, menstrual disorder, diseases of uterus, and hormonal problems due to ovary hormones.

· 8th house/ sign Scorpio: death, trouble in womb and ovaries, chronic incurable diseases.

· Jupiter: significator of tumours and a cancer, arterial system

· Saturn: obstruction, acids, chronicity, incurability, glandular diseases, depression, injuries sustain from the fall, different forms of cancers, tumours.

· Mars: bleeding, inflammation in body, haemoglobin, injuries, infection and contagious diseases, haemorrhoids, diseases of uterus, miscarriages and abortions.

· Rahu: contagious diseases, undignostic diseases, intoxication, worries, phobia, psychological disorder

· Ketu: injuries, accidents, fevers, infections, mysterious diseases, surgery.

Different astrological combinations for female disorders

Common female organ disorders:

Pelvic inflammatory disease, endometriosis PMS, menstrual disorders

· Saturn in sign Scorpio, placed in the 8th house will give diseases of reproductive organs throughout life.

· Affliction to Moon and Mars in a female astrology chart create disturbance in menstrual cycles

· Afflicted 8th house/lord and sign Scorpio indicate generative organs problems

· Mars afflicting 7th /8th house and Moon induces endometriosis

· Venus square Mars gives congestion or the surplus blood being stored in the walls of the uterus or endometriosis

· Moon and 8th house/lord afflicted by Mars indicates excess bleeding in menstrual cycle and pelvic inflammatory diseases.

· Malefic aspects on lords of 6th and 8th houses, guarantees the presence of venereal diseases or some other disorders of the genital system

· Mars and Rahu posited in 7th indicates excess bleeding

· Moon and 8th house/lord afflicted by Saturn indicate scanty flow in menstrual cycle with severe pain

· Mars in the 6th house is an indication of acute illness of the genitals (bleeding and inflammation)

· Venus posited in 6th/8th/12th house indicates common female genitals disorders

· Lord of ascendant/6th, conjunct with Mercury and Rahu is the sure indication of female disorders

· 7th house/lord afflicted by Mars stands for inflammation and endometriosis

Ovaries disorders:

Include ovarian cysts, polycystic ovary syndrome and ovarian cancer.

· Afflicted sun/moon in sign Scorpio indicates ovarian disorder

· Venus affliction or Moon Square Mars can bring ovary complaints or trouble

· 7th house/lord aspected afflicted Moon/Venus can give the polycystic ovary syndrome.

· 7th/8th house/lord and Venus afflicted by Saturn and Rahu indicates ovary cancer

Uterus disorders:

Include fibroids, uterine polyps, prolapsed uterus and uterine cancer.

· 8th lord /house is malefic in nature/ posited in inimical sign/debilited/ set/ hammed between malefic/ conjunct and aspected by malefic, indicate uterus problems

· Lords of 6th and 8th related to each other indicate uterus disorders

· 8th lord/house and Moon are afflicted by Saturn and Rahu indicate uterus cancer

· Lord of 8th placed in 6th/12 house and aspected by Saturn and Rahu indicate uterus cancer

· 6th lord is placed in 8th/12 and aspected by Saturn and Rahu indicate uterus cancer

· Moon /8th house/sign Scorpio afflicted by Ketu indicate uterus fibroids

Blocked fallopian tubes

· Venus/Moon being afflicted by Saturn/Rahu indicates blockage in fallopian tubes.

· 7th/8th house afflicted by Saturn and Rahu indicates obstruction in fallopian tubes

Breast disease:

Breast cancer/tumours/lumps

· Moon/sign Cancer being afflicted by Saturn indicate lumps in breast

· Moon/4th house/sign Cancer badly afflicted by Ketu indicate lumps in the breast

· Moon /4th house associating with weak Jupiter indicate the symptoms of non cancerous tumours on the breast.

· 4th house/lord being afflicted by Saturn and Rahu indicates cancerous tumour in the breast

· Moon/sign Cancer is afflicted by Saturn and Rahu indicated breast cancer

· 4th lord posited in 6th/8th/12th house being aspected by Saturn/Rahu indicates breast cancer

· 6th/8th/12th lord placed in 4th and aspected by Saturn and Rahu indicates breast cancer

Vaginal/ bladder / urinary tract infection

Women are more prone to these infections because the female urethra is shorter than the male’s and bacteria/virus/yeast can move up to the bladder/vagina more quickly in women.

· Lords of 4th and 7th posited in 6th/8th /12 house indicates urinary tract infection

· Lords of 4th and 7th are placed in an inimical sign and aspected by malefic indicates urinary tract infection.

· Mars in Libra/7th house may cause inflammation of urinary tract by infection.

· Lord of 6th/7th placed along with lord of 12th and aspected by Saturn indicates venereal infection

· 8th house/lord and Venus afflicted by Rahu indicates venereal infections

· Any affliction to Libra/ 7th house or lord by Saturn gives rise to diseases concerning kidney, bladder and the pelvic region

· Afflicted Venus in Libra may cause suppression of urine and uraemia.

· Moon, Venus and lord of ascendant combine with the Sun and Rahu; the native may suffer from syphilis

· Malefic aspects of Saturn, on Scorpio /8th house, are a predisposition for a bladder stone

· Sun in 6th being aspected by Saturn indicates loss of vitality due to excess sex

Osteoporosis

Although not a disease restricted to females, osteoporosis seems to prey most often women over the age of 60.Osteoporosis is caused by low amounts of phosphate and calcium in bones, causing them to be porous, brittle and more apt to break.

· Afflicted Saturn /sign Capricorn indicates osteoporosis

· Afflicted Sun/sign Leo or Jupiter / sign Sagittarius indicate low bone density

· Sun posited in 6th/8th/12th house, debilited, conjoined or aspected by malefic planets, gives bone weakness.