Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ectodermal dysplasias (ED) are a group of inherited disorders characterized by dysplasia of structures of ectodermal origin, clinically classified into hypohidrotic and hidrotic forms. A 21-year-old female presented with history of hypohidrosis, thinning of scalp and eyebrow hair, xerotic skin, and periorbital and perioral wrinkling. There was hypodontia and peg-shaped teeth on intraoral examination. Routine investigations were normal, orthopantomogram revealed absence of multiple teeth with peg-shaped teeth. Histopathological examination showed thinned epidermis and reduction in the number of eccrine units. Thus, the diagnosis was confirmed as Hypohidrotic ED.
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PMID:Hypohidrotic ectodermal dysplasia. 2318 Sep 27