Open AccessNetherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient
Author(s) -
Moar Agata,
Bruni Manfredo,
Schena Donatella,
Rigotti Erika,
Colato Chiara,
Novelli Antonio,
Cesario Claudia,
Girolomoni Giampiero
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5108
Subject(s) - atopic dermatitis , medicine , dermatology , concomitant , mutation , gene , genetics , biology
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.