Chapter 21 Flashcards
An abnormality of melanocyte function wherein there is patchy absence of hair and skin pigment
Piebaldism
An abnormality of melanocyte function which feature patches of white skin and hair.
Waardenburg syndrome
Eyes of different colors
Heterochromia irides
Absence of which type of cells in the stria vascularis in thr cochlea accounts for deafness in WS
Melanocytes
wS results from mutations of which genes
PAX3, WS1, WS3
characterized by globally reduced or absent pigmentation invthe skin, hair and eyes
Albinism
Cases of albinism are classified as
Oculocutaneous albinism (OCA)
abnormalities of melanin synthesis or processing produce the abnormalities.
OCA
results from a loss of melanocytes due to an autoimmune disorder. There is patchy loss of pigment from affected areas, including the skin and overlying hair and the oral mucosa
Vitiligo
What endocrine organ is usually associated with vitiligo
Thyroid
excessive keratinization of the skin, is characteristic of a group of hereditary disorders that are usually inherited as an autosomal recessive trait but may also be X—linked
ichthyosis
ichthyosis may result in a grotesque appearance
Harlequin fetus
excessive hairines, caused by an unusual abundance of hair follicles.
Hypertrichosis
Hypertrichosis may be localized to certain areas of the body, especially the ________ region covering a spina bifida occulta defect or may cover the entire body
Lower lumbar
the congenital absence of hair, is usually associated with abnormalities of other ectodermal derivatives, such as teeth and nails
Atrichia
