title: Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.
abstract: The congenital erythrodermas represent a heterogeneous group of inherited and acquired disorders often accompanied by systemic infections, impaired epidermal barrier function and concomitant life-threatening fluid and electrolyte imbalance. In the present report, we describe a patient who was considered to have congenital ichthyosiform erythroderma for 26 years until molecular testing led to the correct diagnosis of Netherton syndrome.
authors.affiliation: Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel. e_sprecher@rambam.health.gov.il
authors.forename: E
authors.initials: E
authors.lastname: Sprecher
authors.forename: A
authors.initials: A
authors.lastname: Tesfaye-Kedjela
authors.forename: P
authors.initials: P
authors.lastname: Ratajczak
authors.forename: R
authors.initials: R
authors.lastname: Bergman
authors.forename: G
authors.initials: G
authors.lastname: Richard
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D003873:Dermatitis, Exfoliative / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D006197:Hair / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis* / Q000235:genetics; D007057:Ichthyosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D009154:Mutation; D053491:Proteinase Inhibitory Proteins, Secretory; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5