title: A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome.
abstract: We report a 6-day-old Japanese girl showing generalized erythroderma accompanied by yellowish, exfoliative scaling that was accentuated on the face and scalp. Histological analysis showed psoriasiform dermatitis with acanthotic epidermis and premature shedding of the stratum corneum. Measurement of trypsin-like hydrolytic activity in SC showed six-fold greater activity compared with age-matched controls. DNA analysis revealed two mutations, 375delAT and 966insC, in exons 5 and 11, respectively, of the SPINK5 gene. Although at 4 weeks the child was still too young to display characteristic hair abnormalities or atopic diathesis, we diagnosed Netherton syndrome based on enzyme assay and DNA analysis.
authors.affiliation: Department of Dermatology, Juntendo University School of Medicine, Japan. yumizu@med.juntendo.ac.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Mizuno
authors.forename: Y
authors.initials: Y
authors.lastname: Suga
authors.forename: K
authors.initials: K
authors.lastname: Haruna
authors.forename: S
authors.initials: S
authors.lastname: Muramatsu
authors.forename: T
authors.initials: T
authors.lastname: Hasegawa
authors.forename: K
authors.initials: K
authors.lastname: Kohroh
authors.forename: T
authors.initials: T
authors.lastname: Shimizu
authors.forename: N
authors.initials: N
authors.lastname: Komatsu
authors.forename: H
authors.initials: H
authors.lastname: Ogawa
authors.forename: S
authors.initials: S
authors.lastname: Ikeda
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics*; D007231:Infant, Newborn; D053491:Proteinase Inhibitory Proteins, Secretory; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D015842:Serine Proteinase Inhibitors / Q000235:genetics*; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D015842:Serine Proteinase Inhibitors