A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome

Authors: Mizuno, Y.; Suga, Y.; Haruna, K.; Muramatsu, S.; Hasegawa, T.; Kohroh, K.; Shimizu, T.1; Komatsu, N.2; Ogawa, H.; Ikeda, S.

Source: Clinical & Experimental Dermatology, Volume 31, Number 5, September 2006 , pp. 677-680(4)

Publisher: Blackwell Publishing

Key:
Free Content - Free Content
New Content - New Content
Subscribed Content - Subscribed Content
Free Trial Content - Free Trial Content

Abstract:

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.

Document Type: Research article

DOI: 10.1111/j.1365-2230.2006.02207.x

Affiliations: 1: Paediatrics, Juntendo University School of Medicine, Japan 2: Department of Dermatology, Graduate School of Medical Science, School of Medicine, Kanazawa University, Japan

The full text electronic article is available for purchase. You will be able to download the full text electronic article after payment.

$50.16 plus tax      Refund Policy

 

OR

Back to top

Key:
Free Content - Free Content
New Content - New Content
Subscribed Content - Subscribed Content
Free Trial Content - Free Trial Content
Share this item with others: These icons link to social bookmarking sites where readers can share and discover new web pages.
Page Help Click here for Page Help
Shopping cart
Tools
Sign in






Need to register?
Sign up here
Text size: A | A | A | A