Clinical and Laboratory Evaluation of 4 Pediatric Cases with Netherton Syndrome in the Department of Dermatology, Juntendo University School of Medicine

DOI Web Site 3 Citations 34 References
  • Mizuno Yuki
    Departments of Dermatology,Juntendo University School of Medicine
  • Suga Yasushi
    Departments of Dermatology,Juntendo University School of Medicine
  • Haruna Kunitaka
    Departments of Dermatology,Juntendo University School of Medicine
  • Kourou Kazuhiro
    Departments of Dermatology,Juntendo University School of Medicine
  • Muramatsu Shigenori
    Departments of Dermatology,Juntendo University School of Medicine
  • Yaguchi Hitoshi
    Departments of Dermatology,Juntendo University School of Medicine
  • Ogawa Hideoki
    Departments of Dermatology,Juntendo University School of Medicine
  • Ikeda Shigaku
    Departments of Dermatology,Juntendo University School of Medicine
  • Shimizu Toshiaki
    Departments of Pediatrics, Juntendo University School of Medicine
  • Yamashiro Yuichiro
    Departments of Pediatrics, Juntendo University School of Medicine
  • Komatsu Nahoko
    Department of Dermatology, Graduate School of Medical Science, School of Medicine, Kanazawa University
  • Takahashi Kenzou
    Department of Dermatology, Kyoto University Graduate School of Medicine

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Other Title
  • 順天堂大学皮膚科角化症専門外来で経験した小児Netherton症候群4症例の検討
  • ジュン テンドウ ダイガク ヒフカ カッカショウ センモン ガイライ デ ケイケン シタ ショウニ Netherton ショウコウグン 4 ショウレイ ノ ケントウ

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Netherton syndrome is a rare, autosomally recessive genodermatosis characterized by the trias of congenital ichthyosis, hair abnormality and atopic diathesis. Recently, we experienced 4 pediatric cases whose ages ranged from 6 days to one year and a month. The patients developed generalized scaly erythroderma at or soon after birth, and were referred to our outpatient clinic, which is specific for keratinization disorders. Because all the patients presented generalized diffuse erythema and desquamation at birth, they were initially diagnosed with congenital (non-bullous) ichthyosiform erythroderma. In these patients, the face and head was notably covered by thick seborrheic scales during the neonatal period. However, the erythema and desquamation subsequently resolved during early infancy, and scaly erythema became localized primarily to the seborrheic and intertriginous areas. Hair abnormality and increased serum IgE were not detectable in two of 4 patients at 3 months after birth ; however, these symptoms appeared later during a follow-up period. Skin biopsy samples showed premature hyper-shedding of the stratum corneum cells. In addition, increased trypsin-like hydrolytic activity of the stratum corneum was revealed in all of the patients. This method seemed to be useful for the initial screening of NS. DNA analysis of the SPINK5 gene was also done and revealed mutations in two of the 4 patients. Together with the clinical and laboratory findings, we diagnosed all the patients as suffering from Netherton syndrome (NS). In this report, we summarized the clinical courses and laboratory findings in these patients with NS, and discussed their dermatological treatments and lifestyle guidance (i.e., skin care).

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