Research study on trichothiodystrophy

What is Trichothiodystrophy

Firstly it was discovered by the year of 1979. This disease actually in simple words is called TTD where it stands for Trichothiodystrophy.

It is an autosomal (of asexual chromosomes) disease, which means that it is not a sexual disease. In the main case, it is an inherited disease.

This is an autosomal recessive disease. In symbolization form, it is brittle hair and intellectual impairment (defect). In the main introduction, we introduce this disease in three major parts that are given below.

  • The first word is Trico which means that Hairs.
  • The second word is Thio which means that sulfur.
  • The third is the dystrophy which means that abnormal development and growth. Now we completely define it in such words that it is an autosomal inherited disease in which hairs are produced are sulfur deficient.

Clinical Manifestations of Trichothiodystrophy

 the clinical disease of skin like hairs nails and other displays of ichthyosis in this we explain that it usually increases the malformation and the superficial layer of the most important of skin.

Like as we have noted on the upper side that explains that patients are the defied as the main effect of this is that photosensitive.

In this, we also explain that this disease spectrum is large. And this spectrum is the main affected by the photosensitive. So here the photosensitive plays an important role in the different symptoms of the TTD.   

Range of Trichothiodystrophy

About to point of the estimate it is as concluded that 112 patients are present and these are which contain the age from the 12 weeks to about 47 years. So finally there are different figures according to the conditions for the patients.

A roundabout 10 years with this infection there 19 deaths occur. And the most affected state in the US. So there is a high mortality rate at the age of young. For this, we can notice that

  1. For this Intellectual impairment is (86%)
  2. In Short, stature is( 73%)
  3. Ichthyosis is (65%)
  4. In Abnormal characters at birth is (55%)
  5. In Ocular abnormalities is (51%)
  6. In Infections is (46%)
  7. Photosensitivity is (42%)
  8. In Maternal pregnancy complications is (28%)
  9. Defective DNA repair is (37%)

We can also define it in many other forms which come in its introduction such s although TTD if the effect on the hair nails in this group a patient feels not well he feels very sadness in his body.

Here is the mean of multisystem disease is that it affect many parts of the body such as the main skin and organ system. In this, some tissues are named as the neuroectodermal tissues. The patients with brittle hair are due to the reduced content of cysteine-rich matrix proteins.

Here the Ichthyosis mainly appears at the time of birth. Mean that after the few weeks of the birth. Here other factors are involved such as Oscular cataracts and the factor which is related to pregnancy is maternal complications. Atrophy of subcutaneous is also been present in this disease.  This disease is heterogeneous in severity and extent means that some patients show no neurological signs.

TTD is the most of the defined group of disease as IBIDS   and many other signs.  In this, we will also define the photosensitive effect which involves here and it is as PIBIDS.

Trichothiodystrophy Overlap Syndrome:

In this part, we are going to explain that in two patients this disease like TTD has been reported to the patients were the two girls with 1st was 3 years old.

In this girl with sun sensitivity so here have been retarded symptoms which were the physical and mental

When the person feels the effect of this disease than the skin cancer takes place in that affected person.


                         This disease has four subdivisions and these are the following.

There is another factor which is photosensitivity and it is divided into two subdivisions which are the followings.

  1. BIDS and PBIDS


It has different characters and it is also known as Amish Brittle Hair Brain Syndrome and hair brain syndrome. It is just an inherited disease by the parents if occurs in them. Also it is known as autosomal disease. It is also a nonphotosensitive disease.


It is also known as the disease named as the TAY syndrome. And the other is named of this is also known as the Tay Sachs disease. This is the form of congenital disease. The most are or this is also known as the diagnosed parentally.


PBIDS is the form of a photosensitive form of the disease.  So we can say that all photosensitive are in the form of in only the common deficiency. It is called Nucleotide excision repair. Specificity for this is that the DNA repairing system should remove many parts of the DNA parts. The other types of this effect also show the recessive type which is also known as a xeroderma pigmentation and Cockayne syndrome.

DNA Repair:

There the person is also affected by the arrangement of the DNA repair. There are only the four genes that have been identified and they will affect the arrangement of the DNA and then it will produce a different disease. And it will birth the disease which is termed as the TTD. The names for these are TTDN1, XPB, XPD, and TTDA.

The arrangement is disturbed due to the mean of the process of mutations Sometimes the TTD is also affected due to the chemical factors. But sometimes UV radiations also ply the drastic effect on the human and due to this that on the TTD products.

All Abnormalities:

There are different parts of the human body which are affected by the different abnormalities such as given below:

On Skin:

 About the 79 peoples in research are being affected due to the different abnormalities and it is out of 112 these are all skin abnormalities. So as a result in one ratio, we explain the skin abnormalities which have been recorded 65%.

This disease is, or it is a form of ichthyosis. And the second skin is abnormality is due to photosensitivity which has been recorded to 42%. There are also others which are in the ratio of 21% and it is the form of dry skin.  There are also the Eczema (8%) and Freckles (7%).

On Hair and Nails:

These hair and nail abnormalities are present on all the ratio of 112%. Also, the form of brittle hair was 96%. Tiger Tail banding is about 73%, decreased sulfur (71%), Sparse hair (48%), Alopecia (39%).

Neurologic Factor:

There the ratio of due to neurological factor is 100% .due to this 86% of people is affected due to neurological factor, and the Microcephaly (50%). Abnormal gait is   (26%), increased Tendon reflexes (13%).

Growth Abnormalities:

There a ratio of 81% of the people due to this disease which is named as the growth abnormalities. In this, the main cause is that they lose their weight .it is the main cause of the growth abnormalities. 

The other cause due to the growth abnormality is that they also lose their height. So the third cause is that they will have a short size and with the there is the retard form.

Gonadal Effec

 In this abnormality, there is a ratio of the 16 out of the 112 due to this, there is no chance for the production of fertile offspring. In this case, the mostly female are affected and they will not produce the offspring. This is the main cause of this gonadal effect.

Pregnancy and Birth:

In this case about the 34 people affected due to this effect of pregnancy. This occurs mostly at the age of 25 years. So we can say that in 2005 the ratio of infants was 8.5% affected due to this.

Ocular Abnormalities:

Here we can say that due to the ocular abnormality about 51% of people have been affected. If we see the age of these people we will conclude that they are 21 in age. Now we can about this to the men of the infection is 36%. This all is about ocular abnormality.

Skeletal and Dental Abnormalities:

There the ratio of affected people is that bout 46 due to this disease. And the main mechanism showed by the Radiography.

Cardiac and Hepatic Abnormalities: 

Here is the ratio of the affected people is about the 13 which have been affected due to the cardiac abnormality. So finally here is that 3 people are liver disease due to the cardiac abnormality.

Hematological Abnormalities:

There is a ratio of 24 people are affected due to this behavior of the hematological abnormality. There is the main disease of anemia which is 12%.

DNA Repair:  

There we see the ratio of people which are the 41.  Here is the cause of this is mainly involve in the mutation.

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