What is the cause Trichothiodystrophy?
What causes trichothiodystrophy? Trichothiodystrophy is caused by defective DNA repair and transcription and is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene that causes trichothiodystrophy for a child to inherit the condition.
What causes TTD?
TTD is a genetically heterogenous condition. This means that mutations in several different genes may be responsible for the syndrome. Many patients with TTD have abnormalities in genes involved in the nucleotide excision repair pathway which is responsible for repairing DNA damage caused by ultraviolet radiation.
What is Sjogren Larsson Syndrome?
Sjögren-Larsson syndrome (SLS) is an inherited disorder characterized by scaling skin (ichthyosis), intellectual disability, speech abnormalities, and spasticity. Affected infants develop various degrees of reddened skin with fine scales soon after birth.
Can’t go out in the sun disease?
People who have an extreme sensitivity to sunlight are born with a rare disease known as xeroderma pigmentosum (XP). They must take extreme measures to protect their skin from ultraviolet (UV) light. Anything that emits UV light, including the sun and some lightbulbs, can damage their skin.
What are the symptoms of ataxia telangiectasia?
Symptoms include slurred speech, poor balance, lack of muscle control, and tiny red spider veins in the corners of the eyes or on the ears and cheeks. There is no cure. It is managed by treating the symptoms. Treatment may include physical therapy, occupational therapy, and genetic counseling.
What body systems are affected by ataxia telangiectasia?
Ataxia-telangiectasia (AT) is a rare inherited condition that affects the nervous system, the immune system and other body systems. It is characterized by the presence of: Progressive ataxia (lack of coordination) due to a defect in the cerebellum (the part of the brain involved in coordinating the movement of muscles)
Is there a cure for Bloom syndrome?
There is no cure for Bloom syndrome. Children with Bloom syndrome need nutritional monitoring to ensure maximum growth. People with the disease are advised to stay out of the sun and wear sunscreen to prevent skin lesions, particularly during childhood. They should also make an effort to avoid infection of all kinds.
What triggers a Sjogren’s flare?
Autoimmune diseases such as Sjogren’s syndrome are highly likely to be triggered by environmental factors such as pollution, infections, certain medications, diet, and allergy-causing agents. Make a note of potential environmental triggers, and try to steer clear of them as much as possible.
What is trichothiodystrophy?
Trichothiodystrophy is a rare, multisystem, autosomal -recessive disorder characterised by sulphur-deficient, short, brittle hair. Other clinical features may include photosensitivity, ichthyosis, intellectual impairment, haematological abnormalities, decreased fertility, and short stature [1].
Is trichothiodystrophy autosomal recessive or dominant?
This condition is inherited in an autosomal recessive manner. Trichothiodystrophy ( TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into tricho – “hair”, thio – “sulphur”, and dystrophy – “wasting away” or literally “bad nourishment”.
What is the prognosis of trichothiodystrophy?
Trichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening.
Why do people with trichothiodystrophy get sunburn?
About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun.