Trichothiodystrophy (TTD) is a rare genetic disorder that involves the production of abnormal brittle hair, icthyosis, and physical and developmental disorders. It can also involve ataxia, stunted growth, and skin sensitivity to light and UV rays. TTD is a seriously disabling disorder with a severe skin affliction and serious developmental defects and growth retardation. It can also cause immune deficit cells, premature aging in facial features, cataracts and dental abnormalities, poor weight gain, autistic characteristics such as irritation to high frequency sounds, and repetitive movements and behaviours. It is one of a group of diseases - the others being xeroderma pigmenentusm and cockayne syndrome. It is a rare and recessive disorder, and patients can be characterised by symptoms of sulphur deficient hair, and in about 80% of cases, photosensitivity. There have been no reports of association with skin cancers, but patients have been known to have short life expectancy. Diagnosis is made by studying the hair mounts, and by amino acid analysis which demonstrates decreased high sulphur matrix proteins. The hair is so brittle that once it emerges from the skin and becomes exposed to the environment, the hair breaks and fractures, and so the result is brittle, short and sparse hair. This is why most of the children with TTD have sparse eyebrows and eyelashes.There is currently no treatment for TTD.
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This is a freelance article by Helen Angus.Watching the sun rise and set, sitting out on a warm summer’s day, or even waiting to watch the moon pass across its face during an eclipse: the sun is a large part of most people’s lives. However, enjoying the sunshine isn’t an experience that we can all share. The sun and the UV rays that it produces are so powerful that they can harm us, particularly those of us with conditions like TTD, whose bodies aren’t able to protect themselves.The Dark Side of the SunSunburn is a clear reminder of just how powerful sunlight can be, but even when we manage to avoid burning, we can still be harmed by exposure to the sun. You might not be able to see it happening, or to feel the effects immediately, as someone with TTD would do, but the sun could be damaging your skin cells and the DNA they contain. One of the effects of this invisible damage does become apparent over time, as some of the effects of ageing are caused by the damage inflicted by the sun. When we develop wrinkles and sunspots, we can blame many years of exposure to the sun, as well as our age. Sometimes, the effects can be more serious. The sunlight that penetrates our skin can damage our DNA. Click here to read full article...