Incontinentia pigmenti | Genetic based physical disorder

Incontinentia pigmenti is an abnormal genetic condition that affects the skin, hair, nails, eye, teeth, and central nervous system. The skin abrasion of incontinentia pigmenti are present at developing in the first weeks of life or at birth in almost 89% of patients.it occurs mainly in females and rarely in males.

This is an X-linked inheritance, the gene acts dominantly. It means both males and females show disorder. The other name of this disease is “Bloch-Sulzberger Syndrome”

Description of Incontinentia pigmenti

IP is a situation that disturbed different body systems as skin. This condition mostly found in females than males. The symptoms of IP show from childhood and also in mature.

Most infected infants are blistering rash at birth and beginning of the development of fetus who heals and given by the development of swelling like skin growth.

The skin appears greyish or brownish spots that are found irregular. This Hyperpigmentation change with time and become light-colored skin which is called Hypopigmentation.

Incotinentia pigmenti or blochsulzberg syndrome is a very rare disease it is lethal in males even.

however systemic disease is an eye in Incontinentias pigmentis ip Syndromes are note be the so much commons, they are oftens high very week .just like skin related symptom, that are effective overs the decade, systematics involvements remain throughout the patient’ life, directly affecting their lives.

Eyes involvements occur at a rate of 35 up to 76.9% of the observed population systems. In most case, the conditions are another structures, when bilaterally, most one eye is frequent affect one as compare to other visuals abnormalities usually connected within neurosurgical systems involvements.

The present off effectively on one person or efficiently two-person is called bilaterally blindness had been reportedly between 8%to 22%.in mostly common and mostly seriously surprising injuries are the retinal one in eyes, affecting the vascularizations (abnormal or excessive formations of blood) develop in the 1st  month of lives in the retina pigments epitheliums (RPEs).

Change that are present within retinal of eyes is commonly secondary to retina ischemia(tissue whose blood supply has been reduced or cut off.), and its sequence events: rapid increase in the number of newest blood vessel (within body bleedings blood), pores pre-retina reactive change of glial cells and retinal absence.

The process can also be self-controlled and can be stopping at any phase, and leaving the retinal consequence of a previous disease or injury, for example – avascular a  twisting or distortion (tortuosity) of arteries throughout the body, a mass of cells and fluid that has seeped out of blood vessels or an organ, the extravasation, or leakage, of blood into the areas in and around the vitreous humor of the eye cellophane maculopathy, changes in RPE coloration, and retinal detachment occur.

It is the most common disease in a female that can even cause the death of the female.

Incotinentia pigmenti stages

  • Vesicle stages
  • Virus stage
  • Different coloration stage
  • Same coloration stage

Virus stage:

It starts from birth up to 2 weeks with linear vesicles. These vesicles can be changed in size from 0.1 cm to 1 cm or more and small pimple on the skin.

This stage is very complicated with a virus that can cause diseases. Damaged parts observed on the upper portion, can be produced or seen on the trunk part, head-parts region and neck back.

The virus stage can occur in 89-94.9% of the affected. Mostly effect persons (> 89.9%)  are present can be observed at a baby stage or occur within 2 or three weeks of life and then cease to be visible and can be seen by 3.9 months of age.

In rare cases, rarely  they can be appeared and can be observed clearly after the first 12 months of life or still during within the uterus periods.

Self-limited days and symptoms of current vesicles damaged tissue are observed even in old age children, in cooperation with sudden fever disease.

Verrucous stage

It appears between the age of 2 to 8 weeks with warty and keratotic linear papules. In general, the damaged tissue mostly development on the extreme as well as dead body, as well as observed on the head region and neck part.

Its locus can correspond to the last distribute swelling within phase no 1. in presence of warts damaged tissue is reported in mostly 70% patients. the most cases, the are develop in between 2 to 6 weeks as well as are usually disappeared by 6 months of age.

Occasionally, or frequently warty damaged tissues remain into adults or observed sometime laters within the diseases inthe patient process, in the structure of chronic disease in prediction to palm.

Hyperpigmented stage

It appears between the ages of 3-6 months with macular hyperpigmentation in a swirled pattern with the lines of blaschko.these changes often occur in the nipple’s axilla and groin. This stage mostly appears in 90-97% of cases with IP.

The most common appearance of these lesion in body

Hypopigmented stage

It starts from infancy and lasts through adulthood with hypopigmented streaks and patches.  These types of damages usually developed with adults, remain in adults and can be permanent. It can be observed on 29% up to 74% of disease. but, during chronic damage, they can appear that is this stage can have been unreported in history but they can appear in most patients with IP disease.

Causes of Incontinentia pigmenti

Incotinentia pigmenti is less common disease. About nine hundred (900) to one thousand two hundred (1200) infected peoples or patients are reported.

Maximum females are affected by this disease but a few dozen males are reported by incontinentia pigmenti. This disease is produced by an abnormality in a sex chromosome (X) and two same XX chromosomes are found in females therefore this disease mostly transfers from parents to female offspring.

Cause’s findings are the change according to the stage in which the damages are. In the first stage,  intercellular edema with readily stained by eosin and rarely basophilic bacterial swelling without filtration can be observed.

Large groups of cells below the stratum granulosum are usually observed. The Vulgaris stage commonly presents the thickening of the skin abnormal thicke of the out phase of the skin and a benign tumor of the skin or mucous.

Stage 3 usually shows a phenomenon observed in some inflammatory skin. This is characterized or observed by the absence of the natural coloring matter of animal or plant tissue in the epidermis.

In rare cases, rarely they can be appeared and can be observed clearly after the first 12 months of life or still during within the uterus periods.

Self-limited days and symptoms of current vesicles damaged tissue are observed even in old age children, in cooperation with sudden fever disease.

Effects areas of the scalp

In the lack of family history, the presence of at least one major principle or standard by which something may be judged or decided is required while the presence of minor principle supports the diagnosis of IP disease. On the presence of their high rate, the complete absence of minor principles leads to the state of being uncertain in diagnosis (chart one).

Effects on eye

however the systemic disease is an eye in Incontinentias pigments IP Syndromes are note be the so much commons, they are often high very week .just like skin relateds  symptom, thats are effectives overs the decade, systematics involvements remain throughout the patient’ life, directly affecting their lives.

Eyes involvements occur at a rate of 35 up to 76.9% of the observed population systems. In most cases, the conditions are another’s structures when bilaterally, most one eyes are frequent effect as compare to other visuals abnormalities usually connected within neurosurgical systems involvements.

The present off affectingly on one person or efficiently two-person is called bilaterally blindness had been reported between 8%to 22%.in mostly common and mostly seriously surprising injuries are the retinal one in eyes, affecting the vascularizations (abnormal or excessive formations of blood) develop in the 1st  month of lives in the retina pigments epitheliums (RPEs).

Change that is present within retinal of eyes is commonly secondary to retina ischemia(tissue whose blood supply has been reduced or cut off.), and its sequence events: rapid increase in the number of the newest blood vessel (within body bleedings blood), pores pre-retina reactive change of glial cells and retinal absence.

The process can also be self-controlled and can be stopping at any phase, and leaving the retinal consequence of a previous disease or injury, for example – avascular a,  twisting or distortion (tortuosity) of arteries throughout the body, a mass of cells and fluid that has seeped out of blood vessels or an organ, the extravasation, or leakage, of blood into the areas in and around the vitreous humor of the eye cellophane maculopathy, changes in RPE coloration, and retinal detachment occur.

causes findings are the change according to the stage in which the damages are. In the first stage,  intercellular edema with readily stained by eosin and rarely basophilic bacterial swelling without filtration can be observed. Large groups of cells below the stratum granulosum are usually observed. The Vulgaris stage commonly presents the thickening of the skin abnormal of the out phase of the skin and a benign tumor of the skin or mucous.

Stage 3 usually shows a phenomenon observed in some inflammatory skin. The   is characterized or observed by the absence of the natural coloring matter of animal or plant tissue in the epidermis.

The most typical and common eye abnormalities in IPs alterations are the presence of retrolental masses within retina detachments of retinal.

It changes were most founds in 12% of patients, can be called by different types of name, as an inflammatory condition of the eye or abnormal proliferation of fibers tissues immediately behinds the lenses of the eyes.

A variety of funduscopic processes of alteration including rare entity consisting of decreased visual acuity, abnormal vessels, a congenital malformation with In eyes causes defect within lenses, irises, or retinal and optics nerve waste away can occur in this phase.

In rare cases, rarely  they can be appeared and can be observed clearly after the first 12 months of life or still during within the uterus periods.

Self-limited days and symptoms of current vesicles damaged tissue are observed even in old age children, in cooperation with sudden fever disease.

Neurologic effects

 are observed too in some cases. commonly the commonness of CNS symptoms is approximately 29%. It is the tentative explanation that there are relations and bonding between the seriousness of eye-related causes and the genetic make-up of an individual.

 injury or dysfunction associated with IP are different in every organ, starting from only a single season of a sudden attack of illness to slowing-down of thought and a reduction of physical movements in an individual, difficulties with learning and understanding new things paralysis of one side of the body, loss of consciousness, or convulsions, associated with abnormal electrical activity in the brain., inflammation of the brain and newborn children and blood flow to an area of the brain is blocked or interrupted.

Carrying out the functions of daily life in a disease that appears only occasionally in random cases, and is therefore not an epidemic. (15.9%)as compared with familiar cases (3%). Hadi- about neurons related to disease, and two patients died due to The sudden death of some brain cells due to lack of oxygen.

Delayed slowing-down of thought and a reduction of physical movements in an individual was found in seven of 14 patients, three had difficulty carrying out the functions of daily life, and the remaining three presented muscles on one side of the body being in a constant state of contraction.

The initial neurologic deficit is observed and shrewd nervous system prolonged state of deep unconsciousness and temporary cessation of breathing, to do or make something that looks real but is not real. Brain necrosis was reported and observed.

IP is a situation that disturbed different body systems as skin. This condition mostly found in females than males. The symptoms of IP show from childhood and also in mature.

Most infected infants are blistering rash at birth and beginning of the development of a fetus who heals and given by the development of swelling like skin growth.

The skin appears greyish or brownish spots that are found irregularly. This Hyperpigmentation changes with time and becomes light-colored skin which is called Hypopigmentation.

Incotinentia pigmenti or blochsulzberg syndrome is a very rare disease it is lethal in males even.

Dental detection

Tooth involvements occur at a rate of 35 up to 76.9% of the observed population systems. In most cases, the conditions are other structures, when bilaterally, most one eye is frequent affect one as compare to other visuals abnormalities usually connected within neurosurgical systems involvements.

The present off affectingly on one person or efficiently two-person is called bilaterally blindness had been reported between 8%to 22%.in mostly common and mostly seriously surprising injuries are the retinal one in eyes, affecting the vascularizations (abnormal or excessive formations of blood) developed in the 1st  month of lives in the retina pigments epitheliums (RPEs).

causes findings that can be made is the change according to the stage in which there is the damages are seen. In the first stage,  intercellular edema with readily stained by eosin and rarely basophilic bacterial swelling without filtration can be observed.

Large groups of cells below the stratum granulosum are usually observed in different stages. The Vulgaris stage commonly presents the thickening of the skin abnormal thick of the out phase of the skin and a benign tumor of the skin or mucous.

Stage 3 usually shows a phenomenon observed in some inflammatory skin.The   is characterized or observed by absence of the natural coloring matter of animal or plant tissue in the epidermis.

Inheritance Pattern

A female gives only X chromosome during gamete formation and fertilization therefore mostly females infected due to this disease but males have two options which are X or Y one of two sex chromosomes. Imbalance production of IKBKG protein causes or creates this abnormality.

A few cells production of IKBKGi protein and some cells will produce abnormal or nothing due to the deletion of a part of the IKBKG gene due to this unbalancing production of protein becomes a cause of incontinentia pigment.

IP is a situation that disturbed different body systems as skin. This condition mostly found in females than males. The symptoms of IP show from childhood and also in mature.

Most infected infants are blistering rash at birth and beginning of the development of a fetus who heals and given by the development of swelling like skin growth.

The skin appears greyish or brownish spots that are found irregularly. This Hyperpigmentation change with time and become light-colored skin which is called Hypopigmentation.

Incotinentia pigmenti or blochsulzberg syndrome is a very rare disease it is lethal in males even

Symptoms

1-Discoloration of skin in which spots

become appear on the skin and these spots

disappear with the passage of time.

 2-Redness of skin which also called hyperpigmentation in which more pigments accumulate in the skin and with the time it becomes hypopigmentation as fewer pigments.

3-Few females with IP have thin hair and some may also

have bald patches. In mature age, only some patients

show minor abnormality of loss of hairs and mostly

become normal.

The 4-Nails discoloration is found about more than 40%

Of IP patients. Sometimes pitted or ridged and sometimes ss

totally interrupted.

5-Reduction of pigments

6-Dental abnormalities also found in about 60% of IP patients and the loss of teeth (Hypodontia) also found in about 43% of patients.

7-Abnormality in the eye which loss vision is found about in few patients as 10%.

 injury or dysfunction associated with IP are different in every organ, starting from only a single season of a sudden attack of illness to slowing-down of thought and a reduction of physical movements in an individual, difficulties with learning and understanding new things paralysis of one side of the body, loss of consciousness, or convulsions, associated with abnormal electrical activity in the brain., inflammation of the brain and newborn children and blood flow to an area of the brain is blocked or interrupted.

Frequency

Incotinentia pigmenti is a less common disease. About nine hundred (900) to one thousand two hundred (1200) infected peoples or patients are reported.

Maximum females are affected by this disease but a few dozen males are reported by incontinentia pigmenti. This disease is produced by an abnormality in a sex chromosome (X) and two same XX chromosomes are found in females therefore this disease mostly transfers from parents to female offspring.

 

 

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