Premium
A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome
Author(s) -
Mizuno Y.,
Suga Y.,
Haruna K.,
Muramatsu S.,
Hasegawa T.,
Kohroh K.,
Shimizu T.,
Komatsu N.,
Ogawa H.,
Ikeda S.
Publication year - 2006
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2006.02207.x
Subject(s) - dermatology , ichthyosis , erythroderma , medicine
Summary 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.