What is Trichothiodystrophy disease?
Trichothiodystrophy (TTD) is a rare inherited, genetic disease characterized a broad spectrum of abnormalities. Patients with different manifestations are linked together by the common feature of short, dry, brittle, sulfur-deficient hair which has a characteristic tiger tail pattern under polarizing microscopy.
Who discovered Trichothiodystrophy?
Trichothiodystrophy (TTD) was first described by Davies in 1968 as a rare autosomal syndrome in which patients exhibited sulfur-deficient brittle hair, scaly skin and mental, physical retardation, and in about 50% of the cases photosensitivity, without an elevation in skin cancer (Cleaver et al., 2009; Pollitt et al..
What is a syndrome kid?
KID syndrome is a genetic disorder and can be transmitted from a parent to a child in an autosomal dominant fashion. That means that each individual affected with the disease would have one abnormal and one normal copy of the disease gene.
What gene causes Trichothiodystrophy?
Most cases of the photosensitive form of trichothiodystrophy result from mutations in one of three genes: ERCC2, ERCC3, or GTF2H5. The proteins produced from these genes work together as part of a group of proteins called the general transcription factor IIH (TFIIH) complex.
What chromosome does Trichothiodystrophy affect?
Phenotype-Gene Relationships
| Location | Phenotype | Inheritance |
|---|---|---|
| 19q13.32 | Trichothiodystrophy 1, photosensitive | AR |
What is baby Kiss syndrome?
KISS stands for Kinetic Imbalances due to Suboccipital Strain, in other words, disorders in the symmetrical development of the baby that arise as a result of vertebrae disorders. The early signs of a blockage in the vertebra are highly varied. Many, though not all, babies cry a lot, sleep badly and are easily startled.
What is a glass child?
Glass children are siblings of a person with a disability. The word glass means people tend to see right through them and focus only on the person with the disability. ‘Glass’ is also used because the children appear strong, but in reality are not.
How is Trichothiodystrophy treated?
Given there is no cure for trichothiodystrophy, treatment is based around managing clinical manifestations, symptoms, and complications. Patients who are photosensitive should be provided with sun protection advice. Infections should be treated early and aggressively [1].
What are the signs and symptoms of trichothiodystrophy?
Patients with different manifestations are linked together by the common feature of short, dry, brittle, sulfur-deficient hair which has a characteristic tiger tail pattern under polarizing microscopy. The signs and symptoms vary widely between patients. Typically, patients are born pre-term and with low birth weight.
What does trichothiodystrophy do to your hair?
Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength.
What makes trichothiodystrophy a rare genetic disorder?
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).
What are the treatment options for trichothiodystrophy ( TTD )?
TTD is generally apparent at birth but can be difficult to diagnose due to the symptom variability and its similarity to other conditions. Treatment is based on managing symptoms, including moisturizers to moisten dry skin, surgery to correct cataracts, nutritional support and physical, occupational and speech therapies.