title: Netherton syndrome and trichorrhexis invaginata--a novel diagnostic approach.
authors.forename: Cynthia
authors.initials: C
authors.lastname: Burk
authors.forename: Shasa
authors.initials: S
authors.lastname: Hu
authors.forename: Christopher
authors.initials: C
authors.lastname: Lee
authors.forename: Elizabeth Alvarez
authors.initials: EA
authors.lastname: Connelly
mesh_terms: D001706:Biopsy; D002648:Child; D002908:Chronic Disease; D003873:Dermatitis, Exfoliative / Q000175:diagnosis*; D046169:Dermoscopy; D005260:Female; D006201:Hair Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D009154:Mutation; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D012867:Skin / Q000473:pathology; D013577:Syndrome
chemical_list: D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5