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In 2002, Whitkop and other scientists examined patients born with white hair, some black locks, and depigmented skin; he diagnosed them as having black lock albinism deafness syndrome (BADS). [1] Those who were closely working with this case suggested that it was an autoimmune disorder rather than a genetic defect.
Poliosis circumscripta, commonly referred to as a "white forelock", is a condition characterized by localized patches of white hair due to a reduction or absence of melanin in hair follicles. Although traditionally associated with the scalp, poliosis can affect any hairy area on the body, including eyebrows, eyelashes, and beards.
Juvenile Huntington's disease has a life expectancy rate of 10 years after onset of visible symptoms. Most life-threatening complications result from muscle coordination, and to a lesser extent, behavioral changes induced by declining cognitive function. The largest risk is pneumonia, which causes death in one third of those with HD.
Individuals with Ectodermal Dysplasia (ED) commonly experience sparse or absent hair, a condition known as hypotrichosis. Scalp hair is typically fine, brittle, and may lack pigmentation, appearing light or wispy. Eyebrows and eyelashes may also be sparse or absent, contributing to the distinct facial appearance seen in ED.
Hirsutism is a type of hypertrichosis exclusive to women and children, resulting from an excess of androgen-sensitive hair growth. [16] Patients with hirsutism exhibit patterns of adult male hair growth. [1] Chest and back hair are often present on women with hirsutism. [16] Hirsutism is both congenital and acquired.
Prepubertal hypertrichosis is characterized by an excess of hair growth, seen during birth and progressing during childhood. [3] [6] In generalized hypertrichosis, excessive hair growth occurs all over the body, whereas in localized hypertrichosis, excessive hair growth only occurs in certain areas of the body. [2]
Type 1 Griscelli syndrome is associated with severe brain function issues along with distinctive discolouring of the hair and skin. Type 2 Griscelli syndrome have immune system abnormalities in addition to hypopigmentation of skin and hair. Finally, type 3 is seen as those only affected by hypopigmentation of the skin and hair.
The same child shown from the front above in infobox, now seen from the side, with small ears and a chin that is far back. [4] Symptoms in people with Treacher Collins syndrome vary. Some individuals are so mildly affected that they remain undiagnosed, while others have moderate to severe facial involvement and life-threatening airway ...