Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient

Agata Moar; Manfredo Bruni; Donatella Schena; Erika Rigotti; Chiara Colato; Antonio Novelli; Claudia Cesario; Giampiero Girolomoni

doi:10.1002/ccr3.5108

Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient

Clin Case Rep. 2021 Nov 25;9(11):e05108. doi: 10.1002/ccr3.5108. eCollection 2021 Nov.

Authors

Agata Moar¹, Manfredo Bruni¹, Donatella Schena¹, Erika Rigotti², Chiara Colato³, Antonio Novelli⁴, Claudia Cesario⁴, Giampiero Girolomoni¹

Affiliations

¹ Section of Dermatology and Venereology Department of Medicine University of Verona Verona Italy.
² Department of Surgical Sciences Dentistry, Gynecology and Pediatrics University of Verona Pediatric Clinic Verona Italy.
³ Section of Pathology Department of Diagnostics and Public Health University of Verona Verona Italy.
⁴ Translational Cytogenomics Research Unit Bambino Gesù Children's Hospital IRCCS Rome Italy.

Abstract

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.

Keywords: Netherton syndrome; SPINK5; atopic dermatitis; filaggrin 2; ichthyosis; trichorrhexis invaginata.

Publication types

Case Reports