Abstract. The brittle hair syndrome (BHS) is characterized by short stature, intellectual impairment, brittle hair, and decreased fertility in 20 members from a large Amish consanguineous kindred previously reported affected with this syndrome.
Trichothiodystrophy, commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is hair that is sparse and easily broken. In people with trichothiodystrophy, tests show that the hair is lacking sulfur-containing proteins that normally gives hair its strength.
What is the outcome for trichothiodystrophy? The prognosis is typically poor for children with severe disease and the median age of death is reported as 3 years.
Features of TTD can include photosensitivity, ichthyosis, brittle hair and nails, intellectual impairment, decreased fertility and short stature. A more subtle feature associated with this syndrome is a "tiger tail" banding pattern in hair shafts, seen in microscopy under polarized light.
TTD is typically diagnosed by polarized light microscopy of hair shafts, revealing a tiger-tail pattern, and at times by measurement of reduced sulfur content in patient's hair. The classical tiger-tail pattern alone usually is enough to diagnose TTD.
Trichothiodystrophy (TTD), variously known as Tay syndrome, Pollit syndrome, Amish hair-brain syndrome and Sabinas syndrome, is a rare autosomal recessive disorder that was first described as a distinct clinical entity in 1980 to characterize the condition of patients with sulfur-deficient brittle hair and other ...
Cockayne syndrome is not associated with skin cancer, despite the photosensitivity and DNA repair defect, unlike xeroderma pigmentosa. Trichothiodystrophy patients have sulfur-deficient brittle hair with a normal skin cancer risk.
Harlequin ichthyosis is a severe genetic disorder that affects the skin. Infants with this condition are born prematurely with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures).
Cockayne syndrome, first described in 1936 by Dr. Cockayne, is a rare genetic disorder, mainly characterized by growth disorders, intellectual deficit, neuromotor difficulties, and impaired vision and hearing. The children look cachectic with a prematurely aged face. There are different types of the syndrome.
A rare, inherited disorder marked by shorter than average height, a narrow face, a red skin rash that occurs on sun-exposed areas of the body, and an increased risk of cancer. The rash usually occurs on the face, arms, and back of the hands.
Uncombable hair syndrome is a rare genetic condition that causes your child's hair to grow in multiple directions. This makes your hair rough, frizzy and dry and makes combing or brushing your hair difficult to impossible. There's no treatment available for this condition and it goes away on its own during adolescence.
Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace. The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix).
The prognosis, or outlook, for women with Turner syndrome (TS) is usually good. Life expectancy for Turner syndrome might be slightly shorter, but by testing for and treating the conditions that come with TS, women with TS can expect to live essentially normal lives.
Because hair is not a living tissue with regenerative ability, it cannot heal and repair. You can use oils, conditioners, hydrolyzed proteins or other ingredients to disguise the issues temporarily but it's akin to using makeup on the face.
RPI Deficiency
This is considered to be the rarest disease in the world. Ribose-5-Phosphate Isomerase (RPI), is a crucial enzyme in a metabolic process in the human body. This condition can cause muscle stiffness, seizures, and reduction of white matter in the brain.
MEGDEL syndrome is caused by mutations in the SERAC1 gene. The function of the protein produced from this gene is not completely understood, although research suggests that it is involved in altering (remodeling) certain fats called phospholipids, particularly a phospholipid known as phosphatidylglycerol.
Any racial or ethnic group can experience Rett syndrome. Rett syndrome most commonly affects girls, although boys are also (rarely) affected. Boys are usually more severely affected than girls.
Ichthyosis is a group of rare skin conditions that cause dry, scaly skin. It's usually something you're born with, but it can happen later in life. It cannot usually be cured, but there are treatments to help the symptoms.
The main feature of ichthyosis vulgaris is dry, thick and scaly skin. The condition can begin in childhood, often in the first year of life. Adults can also develop the disease. Ichthyosis vulgaris is fairly common, affecting one of every 250-300 people (male and female, and of all races).
Overview of Ichthyosis
Ichthyosis is a group of skin disorders that lead to dry, itchy skin that appears scaly, rough, and red. The symptoms can range from mild to severe. Ichthyosis can affect only the skin, but some forms of the disease can affect internal organs as well.
Weaver syndrome is a rare genetic condition that causes bone overgrowth. People with Weaver syndrome are usually very tall and may have distinct facial features, such as wide set eyes. They may also have intellectual or physical disabilities. Although there is no cure, people with this condition can live healthy lives.
The three types of Griscelli syndrome are caused by mutations in different genes: Type 1 results from mutations in the MYO5A gene, type 2 is caused by mutations in the RAB27A gene, and type 3 results from mutations in the MLPH gene.
Cockayne syndrome is a rare disease which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, very small head (microcephaly), and impaired nervous system development.