Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a family with woolly hair and ulerythema ophryogenes spanning four generations. Both woolly hair and ulerythema ophryogenes have been associated with Noonan syndrome and cardiofaciocutaneous syndrome (CFC), two disorders with considerable phenotypic overlap. This family did not exhibit any of the other findings characteristic of either Noonan syndrome or CFC, similar to a previously described pedigree with hereditary woolly hair. Woolly hair elicits a broad differential diagnosis, including woolly hair nevus and several genodermatoses. Our report reviews the evaluation of woolly hair and discusses the conditions associated with this physical finding.
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PMID:Hereditary woolly hair and keratosis pilaris. 1642 89

Woolly hair is a hair shaft disorder characterized by fine and tightly curled hair. Woolly hair could be syndromic (associated with systemic disease) or non-syndromic (not associated with any systemic disease). Woolly hair is described in association with many skin, dental, ophthalmic and cardiac anomalies but association of woolly hair with bilateral systematized epidermal nevus described in our case is first of its kind.
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PMID:Woolly Hair with Systematized Epidermal Nevus. 2653 42