Tay Syndrome: Causes, Symptoms, Treatment
What is Tay Syndrome?
Tay Syndrome which is also known by the name of Trichothiodystrophy is an inherited pathological condition in which the affected individual has extremely brittle hairs along with short stature, intellectual disability, and fertility issues.
Affected individuals with Tay Syndrome also have abnormalities in the teeth and are often prone to recurrent infections meaning that the immune system is also compromised in individuals with Tay Syndrome.
The brittle hairs which are seen in individuals with Tay Syndrome when examined under a microscope have a unique light and dark banding which is the main diagnostic feature for Tay Syndrome.
What are the Causes of Tay Syndrome?
Tay Syndrome is an inherited condition and follows an autosomal recessive pattern of inheritance meaning that two copies of the faulty gene, one from each parent is required for a child to develop Tay Syndrome. If the child gets a normal gene from one parent and a faulty gene from the other parent then that child will be a carrier for this condition.
The chances of a couple who are both carriers of the defective gene passing the condition to the child are about 50%. In cases of Tay Syndrome, the genes which are responsible for repair of damage of DNA are defective resulting in the characteristic features of Tay Syndrome.
What are the Symptoms of Tay Syndrome?
As stated, the main presenting feature for Tay Syndrome is the brittle hairs which will be observed at the time of birth of the child. Additionally, there will also be scaling of the skin at various areas of the body. As the child grows and the condition progresses the child will be observed to have intellectual impairments and will tend to have a short stature when compared to children of the same age.
Children with Tay Syndrome also have extreme sensitivity to light and even a little exposure to sunlight may cause difficulty in children with Tay Syndrome. The nails of the children with Tay Syndrome will be abnormally short and ridged and tend to break easily.
The ears of children with this condition may have protruded appearance and there may also be a beaked nose in children with Tay Syndrome. Tay Syndrome also tends to affect the nervous system of the body and the child with this condition will often have bouts of seizures, tremors, inadequate muscle contractions.
Children with Tay Syndrome will also have extreme sensitivity to string lights and even a little bit of exposure to sunlight may damage the skin of the child with this condition.
The child will also have undescended testes in males and the external genitalia in females may also be underdeveloped in children with Tay Syndrome. Bone and teeth abnormalities are also quite common in individuals with Tay Syndrome.
How is Tay Syndrome Treated?
Individuals with Tay Syndrome who are extremely photosensitive are recommended to avoid sun exposure as much as possible. Special education may be required to address the issues of developmental delays and intellectual impairments.
Skin softening agents are recommended to treat the scaling of the skin and other skin related abnormalities associated with Tay Syndrome. The most recommended skin products for treatment of skin conditions caused by Tay Syndrome are those products which contain alpha-hydroxy acids. These products need to be used immediately after bathing when the skin is still moist for best effectiveness.
Nervous system abnormalities with seizures can be controlled with anticonvulsants and antibiotics can be used to treat the frequent bouts of infections that are commonly associated with Tay Syndrome.