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Definitions are available at many websites including MedTerms.com and HyperDictionary.com. Our goal is to provide a brief definition of basic terms here and, when possible, provide links to further definitions and additional information.
Alopecia - patchy loss of hair
Autosomal Dominant - it requires a mutation in only one copy of the gene to cause the disorder, and the gene resides on a non-sex chromosome.
Candidiasis - infection with a fungus of the genus Candida, especially C. albicans. It is usually a superficial infection of the skin or mucous membranes, can become severe without treatment
Cornea - the transparent convex membrane that covers the pupil and iris of the eye
Cutaneous - relating to the skin
Cylindroma - a usually benign tumor of either apocrine or eccrine origin generally arising in early life as single or multiple nodules located on the scalp and less often on the face and extremities, and consisting of cylindrical epithelial masses
Distrophy or Dystrophic - progressively degenerating tissue
Ectodermal dysplasia - A hereditary condition characterized by abnormal development of the skin and associated structures (hair, nails and teeth, and sweat glands).
Epidermolysis bullosa - A group of inherited disorders in which massive blistering of the skin develops in response to minor trauma.
Alternate Names: Dominant and Recessive Epidermolysis Bullosa, Epidermolysis Bullosa Letalis, Epidermolysis Bullosa Simplex, Weber-Cockayne Syndrome
Follicular - Shafts through which hair grows
Hereditary mutation - A change in the DNA of a gene or chromosome which is capable of being transmitted from parent to child.
Hyperhidrosis - excessive sweating
Hyperkeratosis - excessive development of any horny growth, such as a wart or callous (see also Keratosis)
Ichthyosis - Dry, rectangular scales on the skin
Keratin - protein molecules that serve as structural units for various living tissues such as hair and nails.
Keratosis - A localized overgrowth of the upper layer of skin (see also Hyperkeratosis)
Leukokeratosis – white patch of horny growth, like a callus, white, thick patches on the oral mucosa produced by hyperkeratosis of the epithelium. It is a benign condition but may predispose to development of epidermoid carcinoma; also called oral leukoplakia
Mucous membranes - mucus-secreting membrane lining all body cavities or passages that communicate with the exterior
Mutation - see Hereditary mutation
Natal - present at birth
Neonatal - developing after birth
Palmoplantar - having to do with the palms of the hands [palmar] and soles of the feet [plantar]
Palmoplantar keratoderma - a group of mostly inherited disorders characterized by the excessive formation of keratin, localized or diffuse, on the palms and soles, sometimes with painful lesions resulting from fissuring of the skin, which may occur alone or may accompany or be part of another disorder
Papillary - a small nipple-shaped protuberance concerned with taste, touch, or smell (such as the papillae of the tongue)
Plantar - having to do with the soles of the feet
Pyoderma - any pus containing/producing skin disease
Spontaneous mutation - A mutation which occurs by itself without being inherited from a parent
Steatocystoma - a common cyst of the skin; filled with fatty matter (sebum) that is secreted by a sebaceous gland that has been blocked
Subungual - under the nail; also called hyponychial
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