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Case Reports
. 2018 Jan 30:2018:9434916.
doi: 10.1155/2018/9434916. eCollection 2018.

An 8-Year-Old Child with Delayed Diagnosis of Netherton Syndrome

Alexander K C Leung  1   2 , Benjamin Barankin  3 , Kin Fon Leong  4
Affiliations
Case Reports

An 8-Year-Old Child with Delayed Diagnosis of Netherton Syndrome

Alexander K C Leung et al. Case Rep Pediatr. .

Abstract

We report an 8-year-old boy with Netherton syndrome who was misdiagnosed and treated as severe atopic dermatitis. The diagnosis of Netherton syndrome was not made until the child was 8 years of age. We discuss the pitfalls in the diagnosis and alert physicians to the proper and early diagnosis of this syndrome. The child was treated with a low dose (0.25 mg/kg) of oral acitretin and a topical moisturizer with marked improvement of his skin and pruritus in 2 months. At 6-month follow-up, the skin was almost clear of erythema and scaling, and the hair was longer and stronger. The dose of acitretin was reduced to 0.12 mg/kg for another 6 months and then discontinued.

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Figures

Figure 1
Figure 1
Serpiginous, erythematous plaques with double-edged peripheral scale.
Figure 2
Figure 2
Trichoscopic examination of the child's scalp hair showing trichorrhexis invaginata (bamboo hair).
Figure 3
Figure 3
A skin biopsy showing “irregular” acanthosis, parakeratosis, and psoriasiform epidermal hyperplasia.
See this image and copyright information in PMC

References

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    1. Trevino J. Netherton syndrome. In: Heyman W. R., Anderson B. E., Hivnor C., et al., editors. Clinical Decision Support: Dermatology. 2nd. Decision Support in Medicine, LLC. Wilmington, Delaware: 2017.

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