Rothmund Thomson syndrome | A genetic complication

Rothmund Thomson syndrome congenital disease that affects different body parts like the circulatory system, integumentary system, eyelashes, teeth, hair, muscles, and skeleton.


An uncommon autosomal recessive disease in which helicase is unusually formed. Poikiloderma is present in RTS which affects Children; deformities of bone, nails, and hair; premature aging; and a predisposition to cancer. RTS can prove to be carcinogenic for its patients.

It was discovered in 19th century. RTS is a hereditary disease. This disease causes hair loss, teeth abnormalities, bone deformities, skeletal disorder, skin rashes and other related diseases of RTS.

This disease was discovered by two scientists Rothmund and Thomson. The risk of cancer can be increased in a patient of  RTS. The patient can also have infertility due to this disease. The RTS patient is needed to cure, care and management.

Other names of Rothmund Thomson syndrome

Other terms that are used as a substitute of rothmund Thomson syndrome are:

  • Poikiloderma congenitable
  • RTS
  • Poikiloderma atrophicans
  • Poikiloderma congenitale of rothmund Thomson
  • Congenital poikiloderma
  • Poikiloderma

History of RTS

RTS was shown in 1868 by German Ophthalmologists  Rothmund describes poikiloderma growth deceleration and rapidly growing bilateral juvenile cataracts  in 10 children in a Bavarian village. He is a  eye specialist.

After, British origin Thomson observed like three cases in 1936. He is a skin specialist.

Then another scientist Taylor named this Rothmund Thomson syndrome in 1957.

Rothmund Thomson syndrome and age correlation

Rothmund Thomson syndrome mostly appears in the age of 3 to 6 months. In some cases, symptoms may be present at the time of birth or they may appear later till the age of two years.

Almost three hundred cases have been come across so far in the history of scientific research of Rothmund Thomson syndrome.


RTS is caused due to change in the nucleotide sequence of genome (mutation) of an autosome and its inheritance pattern is recessive. The individuals having RTS have mutation in a gene nucleotides 7 or 8 named as RECQL4. But some other genes that are not discovered yet can also be responsible for causing RTS.

 The gene RECQL4 produces a protein which takes part in replicating correlation repair of DNA. This protein is helicase in nature and is called RecQ. It is responsible for opening the two overlapping  DNA strands.

If RECQL4 is in low amount or is not playing its role properly, then this protein will not be produced in sufficient amount which consequently leads to improper replication of DNA or its repair. But still the role of this gene is not completely understood.

Another cause of RTS can be change in genetic sequence on chromosome 7 and 8. But it is thought that this cannot be the direct cause of RTS, people can have this abnormal genetic sequence because of overall problem in their genetic information.


 There are following signs of this disease that mostly appear during early age. 

  • Scanty hair
  • Eyebrows and eyelashes removed
  • Rate of growth is slower
  • Small height
  • Deformity of the teeth and nails
  • Gastrointestinal problems in childhood like persistent diarrhea and vomiting
  • Some children produce cataracts which effects vision
  • Several people with this disease have skeletal deformity including absent or deformed bones, late bone development and low bone thickness. Some of these deformities effect the formation of bones in the forearms and thumbs is called radial ray malformations.
  • The risk of cancer is increased in Rothmund Thomson syndrome patients, like bone cancer known as Osteosarcoma. This bone cancer is produced during childhood (adolescence).
  • Many types of skin cancer are produced in whose people those are effected by RTS.

The changed signs and symptoms of RTS related to other disease features like Baler Gerlod syndrome and RAPADILINO syndrome. These syndrome are also related to radial ray malformations, skeletal deformities and slow development. Mutations in one gene causes these disease. Researchers trying to study the RTS, Baller Gerlod syndrome and RAPADILINO syndrome that these are separate disease or a part of same syndrome with same signs and symptoms.

Exanthema or redness on the skin

The cutaneous rash produced during the age of three and six months as red rash on the hand and arm, formation of vesicles in or beneath the skin on the face. Which spreads to the apex and to the backside. The trunk and abdomen are not effected.

Children can develop patches of red color on their face, especially on the central part in the early  stages. This redness then spreads down towards the body parts like forearms and shoulder sides. This redness then lasts forever in life. The tissue of the entire integumentary system may become dead or deformed.

The epidermis variations turn into long standing disease with connected rash on skin that are glowing more than normal skin color and skin or nail darkness, the raising veins near the surface of skin and organ size eliminate that remain for all life.

Hyperkeratotic trauma present in around about 1/3 of persons. Unfamiliar but described results are present:

  • The accumulated Ca++ are made in the epidermis.
  • Spherical rashes on skin, a symptom of keratinization disorder. It is showed in only one individual which was effected by Rothmund Thomson Syndrome. It is rare disease

Skin cancer

Skin cancers are common in child’s and adults which are effected by Rothmund  Thomson Syndrome. These are present on the face, neck and limbs. It is described that skin cancer occurs due to deficiency in DNA repair after subjection to ultraviolet radiation.

Scanty hair:

The hair of the patient which is affected by RTS can be dryness tegument hair or until totally hair removed. The eyebrows and eyelashes of patients which are effected by Rothmund Thomson Syndrome are removed. The hair of other parts of body can also be removed.

Growth and development:

Many persons which are effected by Rothmund Thomson Syndrome have less extension earliar and later  producing  which causes short height. This short height  is balance  for stature and mass and suffering person have corresponding   enlargement of the top and bottom parts of the soma.


The person’s effected by Rothmund Thomson Syndrome weak nails are become which are ordinary. Nails are weakens. The nails of fingers, thumbs of foot and hand become thick and weak.

Deformed skeleton

The patients suffering from this disease can have undeveloped bones and osteocytes may be poorly grown in them. Bones may not be properly developed or can be completely absent from their skeletal system.

These patients can not survive or small height due to improper development and growth of bones. They have low bone thickness and not strong. The bones of other body parts can also be missed or deformed bone or not functional.

Subcapsular, cortical or sclerotic eye clouding

The patients of RTS may suffer from cataracts. This causes poor vision in them. Bilateral cataracts are more in 2 to 3 months childhood and produce during the initial years of life. Some patients effected from this disease or RTS may become completely blind later in life.

A person’s natural height may be short

The regular development process in the persons which are effected by  RTS is disrupted. They can have small height and less weight. They look younger than their age and are poorly developed physically.

Abnormalities in the digestive system

Several baby and childhood which are effected by Rothmund Thomson Syndrome  may have stomach problems including unfamiliar emitting and watery faeces  which are assigned to unbearable. Few persons which are effected from this disease need food track to hold food engulfs. Whatever , in all conditions , these problems are sort out by after children.


The patients which are effected from Rothmund Thomson syndrome have  changement in their skeleton. The bones of these patients are not formed or not normal or absolutely missed which are seen by only X ray. The bones in these patients are weak and not strong.


The Rothmund Thomson syndrome also effects on patient’s teeth. The teeth formed in patients are weak or missed or malformed. It is common in children of three to six years old.


Some persons whose are effected from Rothmund Thomson syndrome disorder of infertility. The missing of testes in male and ovaries are missed in female. They cannot produce their offspring’s.   The females with this disorder have disturbed menstrual cycle. Both in males and females, the sperm and egg reproduction start late. Whatever  some effected persons can produce their offspring’s . Some RTS diseased persons eliminate productivity.


Cancer may be due to Rothmund Thomson Syndrome. It is more familiar in the epidermis and osteocytes.

The chance of abnormal cells formation (tumors) increased in the presons whose have disease  of Rothmund Thomson syndrome. It is malignant bone cancer which spreads from bone to bone.

It mostly occur in femur. This kind of osteocytes tumors are more present in the persons which are effected by Rothmund Thomson syndrome.

  • Off and on, the chemicals which are released from male and female for the fertilization are not formed. Due to this the new children are not produced. It is more common in RTS diseased persons.
  • Leukemia caused tumor in blood cells. Blood has many kinds like erythrocytes, leukocytes and thrombocytes. This  effect on leukocytes. Leukocytes perform main function in our body like it protects our body from other harmful substance and form red blood cells in our body. These cells are present in bone. They are also made in other cells

Some persons which are effected from Rothmund Thomson syndrome  have cancer which spreads from cell to cell or effects only one cell. The tumors which are malignant are chronic or dangerous. The patients with RTS may or may not be die. The patients whose are effected by RTS have normal brain function.

Problem of  respiration

Due to the disease of Rothmund Thomson syndrome, the air tract can also be affected which creates problems in entrance of air. It can be fatal to person. It is rare.

Diseases related with RTS

There are few disease  that are related with Rothmund Thomson Syndrome. Scientists are trying to know that these related diseases are the types of RTS or not the types of RTS or separate. These related disease of RTS have same symptoms and signs like RTS. Which are following:

  • Rapadilino

It is also an autosomal disorder. In this disease, skin redness can be caused. Also the individual with this disease may have a short height. Their bones can be malformed and they may have abnormalities related to digestive system. The affected person has mental problems. This is a rare disorder. It also effect the hormones of male and female’s which produces gametes.

  • Baller-Gerold syndrome

The patients with this disease may have less weight, short height, bone defects and craniosynostosis. In this disease the bones of head and face fused before the maturation. Then the structure becomes malformed. It is a rare disease. This is related to Rapadilino syndrome and Rothmund Thomson syndrome. In this risk of cancer increased significantly.

  • Bloom syndrome

The individuals having this disease may have low tolerance to light. They may have little arteries, capillaries, and veins visible on their face. Their immune system may not be that strong and consequently they have a high risk of having cancer. The face look like butterfly. It is a rare disease.

  • Werner syndrome

The people having this disorder can be at high risk of having cancer. From age 13 to 16, growth is quite slow in this disorder. And in the age from 45 to 48, heart attack or cancer can prove to be fatal for these patients. Due to this disease, the immune system becomes week. It does not fight against any lethal substances.

The thickness of bones decrease. It causes other diseases  like diabetes, skin rashes, hair falls, small height and cataracts. Their symptoms are shown in child’s or ten to thirteen years old. This is rare disease. It is related to RTS.

Identification of a disease

There are following methods to identify the presence of RTS in the individual:

  • The start, looks and increase in the size of red spots on the skin can be the best indicator of RTS.
  • RECQL4 gene can be tested by molecular method. If the test is +ve, it indicates RTS.
  • RTS can be identified by RNA analysis.
  • Little height.
  • Malformed bones like bone development start late, missing of bones in thumbs.
  • Teeth deformity (the teeth numbers decreased).

Management and care of the patient suffering from RTS

Individuals having RTS should consult the following specialists:

  • Skin specialist
  • Bone or orthopediatic specialist
  • Cancer specialist
  • An eye specialist

How to treat RTS

  • Patients should be treated with light of high penetration power or laser ray to destruct or combine little tissue areas.
  • Cataracts can be removed with the help of a surgery
  • In case of dental problems, dental surgeries should be offered.
  • Genetic counseling of the patients and their families is necessary.
  • Cancerous cells can be cured by radiotherapy or by other modern techniques.
  • Genetic guidance is necessary for the affected person and family members.


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