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A circumscribed stable malformation of the skin and occasionally of the oral mucosa, which is not due to external causes and therefore presumed to be of hereditary origin. The excess (or deficiency) of tissue may involve epidermal, connective tissue, adnexal, nervous, or vascular elements. (Dorland, 27th ed)
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Olivopontocerebellar Atrophies
- group inherited disorders which share progressive ataxia combination with atrophy CEREBELLUM; PONS; inferior olivary nuclei. Additional features include RIGIDITY; NYSTAGMUS; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; OPHTHALMOPLEGIA. familial has an earlier onset (second decade) and may feature spinal cord atrophy. sporadic form tends to present in the fifth or sixth decade, is considered a clinical subtype MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)