Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient.
- Resource Type
- Case Study
- Authors
- Moar, Agata; Bruni, Manfredo; Schena, Donatella; Rigotti, Erika; Colato, Chiara; Novelli, Antonio; Cesario, Claudia; Girolomoni, Giampiero
- Source
- Clinical Case Reports. Nov2021, Vol. 9 Issue 11, p1-5. 5p.
- Subject
- *GENETIC mutation
*ATOPY
*ATOPIC dermatitis
*COMORBIDITY
*FILAGGRIN
*DISEASE complications
- Language
- ISSN
- 2050-0904
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. [ABSTRACT FROM AUTHOR]