6th skin disease, C E Porphyria, a skin diseases by inheritance, needs bone marrow transplantation.
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6th skin disease, C E Porphyria, a skin diseases by inheritance, needs bone marrow transplantation.

Congenital Erythropoietic Porphyria, a  skin diseases by inheritance that needs bone marrow transplantation, see its severity

Meaning of porphyria

Porphyrias are basically a group of disease. The problem occurs when there is abnormality in the body in producing porphyrins, a type of chemical. Porphyrins are the crucial chemical to form hemoglobin. Hemoglobin carries oxygen in the red blood cells throughout our body. Hemoglobin is produced by a chain of reactions. The reactions involve conversion of porphyrins to another and in this process a genetic disease occur in the name of “porphyrias”. In the event of a blockage in the chain of reactions, there is a built up of “porphyrin” in the body of the patient, depending on the severity of the blockage. High concentration of porphyrins damages the tissues. Different porphyrias’ accumulations make the severity of porphyrins.

The meaning of congenital erythropoietic porphyria

CEP (congenital erythropoietic porphyria) is also known as Günther’s disease, because Dr.

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Günther described the disease for the first time. The disease is rarest in its type among the porphyrias. Out of every 2 to 3 million of people 1 get this disease. The CEPdisease affect both male and female in an equal manner. All ethnic groups can be the victims.

Congenital erythropoietic porphyria and its causes

High levels of porphyrin are found in this condition, known as porphyrinogen, which affect urine bone marrow and blood and become the signs and symptoms.

Does the problem erythropoietic porphyria run through families?

Yes, the carriers of the condition are parent(s). Each of the parents might not have any signs or symptoms of the problem but has the mutation in the genes of either of them. The risk factor is such that 1 out of 4 will carry the 2 abnormal genes from the each parent and develop the health problem. This hereditary condition is termed as ‘autosomal recessive’.

Congenital erythropoietic porphyria & its symptoms

Since the severity of the condition varies, affected people may not have all the conditions together. In many cases, the condition may affect either in early childhood or in the teen agesThe job of platelets is to help blood clots in preventing bleeding and the job of the white cells is to fight all types of infections in the blood. In this condition more risks are caused for infections and bleeding.

• Oosteoporosis that is thinning of bones can also be the symptoms of CEP. The condition is responsible for bone fractures even for minor injuries.

How does congenital erythropoietic porphyria appear to be?

If the blisters are repeatedly occurring, the patient will have bald patches on their scalps and extensive scaring when their skin is exposed to sun.  A few patients may have darkening of skin due to the exposure to sun. Some patients may develop excess hair on the back of the hand and on the face.

Diagnosis of CEP

If children (or rare cases of adults) have this problem, the diagnosis is confirmed by measuring the levels of porphyrin in the faeces, urine and blood.   All these samples are needed to be kept away from sunlight till they are tested. Changes in the genes are also to be looked for through blood tests.

Pregnant women are not commonly tested for CEP, but exception will be there if there is already a child in the family with the CEP case. In this case cells are taken (for the tests) from the fluids surrounding the baby in the womb (within 3 to 4 months of conception) or from the placenta after the delivery. The test confirms or rejects the cause of CEP due to gene mutation.

Is CEP curable?

Only the bone marrow transplantation is the cure for CEP, as on date. A healthy bone marrow is transplanted from the donor to the person with CEP.  If the BMT transplantation is successful, problems like anaemia and photosensitivity will improve, but the previous damages done by the scarring will permanently remain in the skin.

A good match of bone marrow has to be there for the success of the BMT. The procedure of BMT is full of risks. So only those severely affected are considered for this BMT. The donor and the recipient are tested very intensely before the operation, for the best result to come.

The possibility of curing the CEP disease through gene therapy is being extensively researched. The researchers are trying to see the possibilities of correcting the affected person’s abnormal gene. All are keeping their fingers crossed to see the success in the near future. Since mostly the patients are children, the medical problems get attached with the psychological and emotional aspects of the family members,  leading  to many other unwanted desperations of all the family members of the affected patient(s).

 
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Comments

# Aayush 2018-02-02
Hii, I am from Solapur, I want to know can cigerrete sharing can lead to syphilis ?
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# Dr. Naresh 2018-02-03
yes,sharing cigerette,drinking cups,common spoons etc can also lead to syphilis, Generally whenever the fluid of a person who has syphilis is shared,the infection can occur, you should also consult with good Gynecologist in Solapur
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# Nishith Older than three months
Hii, plz tell me,Which tests can confirm syphilis in primary stage, also suggest name of good maternity hospitals in Udaipur ?
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# Dr. Naresh Older than three months
During the primary stage,DG illumination tests are very helpful, find good maternity hospitals-Dr Kothari S Eye Hospital and Kothari Maternity Home ; Shantiraj Hospital Pvt Ltd.
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# Aarush Older than three months
Can gonorrhoea be caused by the infected towels, also provide the list of good gynecologist in Mahamaya Nagar?
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# Dr. Pooja Older than three months
Gonorrhoea can be transmitted by the infected towels, handkerchiefs of the infected person, But most cases are due to sexual contacts, find here list of good Gynecologist in Mahamaya Nagar.
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# Nishith Older than three months
My friend has been diagnosed with gonorrhoea, Please tell which tests will be advisable, also suggest gynec in Raichur ?
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# Dr. Naresh Older than three months
VDRL tests should be done every month for 3 consecutive months for detecting syphilis as well as other sexually transmitted diseases,These tests should be conducted at proper times, find good Gynecologist in Raichur
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# Aarush Older than three months
Hii, I am from Saharsa, can you plz tell me What is the mode of infection in syphilis ?
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# Dr. Naresh Older than three months
90 percent cases in syphilis are transmitted through unsafe sexual contacts, Mothers can also pass infection through breast milk, you can also consult with good Gynecologist in Saharsa .
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# Nishith Older than three months
Hii can you plz tell me, Which fluids can cause or spread syphilis infection, alos give me the list of good gynec in Shivpuri?
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# Dr. Pooja Older than three months
Infection from semen, blood or lactation milk can occur and cause syphilis, Infection from blood syringes is very common, Infected mothers can transmit it through their milk also, consult with good Gynecologist in Shivpuri .
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# Nishith Older than three months
My friend has been diagnosed with gonorrhoea, Please tell which tests will be advisable, also suggest gynec in North Tripura ?
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# Dr. Naresh Older than three months
VDRL tests should be done every month for 3 consecutive months for detecting syphilis as well as other sexually transmitted diseases,These tests should be conducted at proper times, find good Gynecologist in North Tripura
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# Nishith Older than three months
Hello, plz let me know What is menarche, I want to consult with gynec in Rajsamand, plz suggest ?
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# Dr. Pooja Older than three months
the process of starting of the menstrual cycle in females is called menarche, plz find good Gynecologist in Rajsamand.
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