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Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient
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Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient
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Journal Article
Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient
2021
Overview
A child who comes to our attention for the appearance of erythematous, scaly lesions localized to the upper and lower limbs for 2 months. Histological features suggested ichthyosiform disease and concomitant mutations in the SPINK5 and FLG2 genes confirmed Netherton syndrome with severe atopic manifestations. Our case is particularly interesting because it clearly highlights the clinical characteristics of a rare disease whose atopic manifestations have been aggravated by a concurrence of FLG2 and SPINK5 mutations. Furthermore, trichoscopy showing invaginated trichoresis could suggest an early diagnosis of Netherton syndrome.
Publisher
John Wiley & Sons, Inc,John Wiley and Sons Inc,Wiley
Subject
