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Coffin–Lowry syndrome is an X-linked disorder resulting from loss-of-function mutations in the RPS6KA3 gene, which encodes RSK2 (ribosomal S6 kinase 2).Multiple mutations have been identified in RPS6KA3 that can give rise to the disorder, including missense mutations, nonsense mutations, insertions and deletions.
Misophonia (or selective sound sensitivity syndrome, sound-rage) is a disorder of decreased tolerance to specific sounds or their associated stimuli, or cues.These cues, known as "triggers", are experienced as unpleasant or distressing and tend to evoke strong negative emotional, physiological, and behavioral responses that are not seen in most other people. [4]
Thus, in humans, the nail of the index finger grows faster than that of the little finger; and fingernails grow up to four times faster than toenails. [ 10 ] In humans, fingernails grow at an average rate of approx. 3.5 mm (0.14 in) a month, whereas toenails grow about half as fast (approx. average 1.6 mm (0.063 in) a month). [ 11 ]
Infants and children who have scabies may be tired and irritable from lack of sleep, since scratching at night can keep them awake, and unlike adults, children often get blisters or large nodules ...
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Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, [1] is a rare, neurodegenerative disease causing severe disability.
Dermatomyositis (DM) is a long-term inflammatory disorder which affects the skin and the muscles. [1] Its symptoms are generally a skin rash and worsening muscle weakness over time. [1] These may occur suddenly or develop over months. [1] Other symptoms may include weight loss, fever, lung inflammation, or light sensitivity. [1]
Scale forms on the skin surface in various disease settings, and is the result of abnormal desquamation. In pathologic desquamation, such as that seen in X-linked ichthyosis, the stratum corneum becomes thicker (hyperkeratosis), imparting a "dry" or scaly appearance to the skin, and instead of detaching as single cells, corneocytes are shed in clusters, which forms visible scales. [2]