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Clin. Exp. Dermatol. · Sep 2006
Case ReportsA case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome.
- Y Mizuno, Y Suga, K Haruna, S Muramatsu, T Hasegawa, K Kohroh, T Shimizu, N Komatsu, H Ogawa, and S Ikeda.
- Department of Dermatology, Juntendo University School of Medicine, Japan. yumizu@med.juntendo.ac.jp
- Clin. Exp. Dermatol. 2006 Sep 1; 31 (5): 677-80.
AbstractWe 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.
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