Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 42-year-old woman had multiple pilomatrixomas of the scalp and trunk. Generalized cutis marmorata and Raynaud's syndrome were also present. The skin consistency was noticeably abnormal, being soft and stretchable. Her facies was typically myopathic, there was muscular paresis and atrophy, her speech was slurred, and her intelligence low. A diagnosis of dystrophia myotonica was made, previously unrecognized in this patient. Dystrophia myotonica is a genetic condition involving several systems, including the skin, mainly in the form of pilomatrixomas and vasomotor changes. Dystrophia myotonica is therefore of interest to the dermatologist for other reasons than the well-known testicular atrophy.
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PMID:[Multiple pilomatrixomas as symptoms of Curschmann-Steinert myotonia dystrophica]. 709 91