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Netherton syndrome: report of identical twins presenting with severe atopic dermatitis

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Abstract

We report the cases of 4-year-old identical twin sisters who presented with severe atopic dermatitis with intractable skin manifestations and multiple food allergies. Netherton syndrome (NS) (OMIM 256500) was suspected due to very high serum IgE levels, growth retardation, severe food allergies and typical hair finding (trichorrhexis invaginata). A definite diagnosis was made by genetic analysis. Our cases are unique in being the first identical twins with NS diagnosed by a novel mutation in the SPINK5 gene. NS should be considered in differential diagnosis in children who have generalized erythema with intractable eczematous lesions and elevated levels of IgE.

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Abbreviations

CIE:

Congenital ichthyosiform erythroderma

ILC:

Ichthyosis linearis circumflexa

LEKTI:

Lymphoepithelial Kazal-type related inhibitor

NS:

Netherton syndrome

TI:

Trichorrhexis invaginata

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Correspondence to Gurkan Kilic.

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Kilic, G., Guler, N., Ones, U. et al. Netherton syndrome: report of identical twins presenting with severe atopic dermatitis. Eur J Pediatr 165, 594–597 (2006). https://doi.org/10.1007/s00431-006-0141-0

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  • DOI: https://doi.org/10.1007/s00431-006-0141-0

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