Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient. Issue 11 (25th November 2021)

• Record Type: Journal Article
• Authors: Moar, Agata; Bruni, Manfredo; Schena, Donatella; Rigotti, Erika; Colato, Chiara; Novelli, Antonio; Cesario, Claudia; Girolomoni, Giampiero
• Is Part Of: Clinical case reports. Volume 9:Issue 11(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-11-25
• Subjects: atopic dermatitis -- filaggrin 2 -- ichthyosis -- Netherton syndrome -- SPINK5 -- trichorrhexis invaginata; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.5108
• Languages: English
• ISSNs: 2050-0904

Abstract

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. Abstract : 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.