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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.
The clinical presentation is typically single or multiple patches of hair loss, sometimes with a 'black dot' pattern (often with broken-off hairs), that may be accompanied by inflammation, scaling, pustules, and itching. Uncommon in adults, tinea capitis is predominantly seen in pre-pubertal children, more often boys than girls.
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.
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]
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.
These genes encode proteins important for hair shaft formation. [8] Clinical symptoms of the disorder arise between 3 months and 12 years of age. The quantity of hair on the head does not change, but hair starts to grow more slowly and becomes increasingly "uncombable". To be clinically apparent, 50% of all scalp hair shafts must be affected by ...
The disease may also go into remission for a time, or may be permanent. It is common in children. [citation needed] The area of hair loss may tingle or be mildly painful. [21] The hair tends to fall out over a short period of time, with the loss commonly occurring more on one side of the scalp than the other. [22]
The skin may develop grey or brown patches which fade with time. Other symptoms can include hair loss, dental abnormalities, eye abnormalities that can lead to vision loss and lined or pitted fingernails and toenails. Associated problems can include delayed development, intellectual disability, seizures and other neurological problems.