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Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient.
Moar, Agata; Bruni, Manfredo; Schena, Donatella; Rigotti, Erika; Colato, Chiara; Novelli, Antonio; Cesario, Claudia; Girolomoni, Giampiero.
  • Moar A; Section of Dermatology and Venereology Department of Medicine University of Verona Verona Italy.
  • Bruni M; Section of Dermatology and Venereology Department of Medicine University of Verona Verona Italy.
  • Schena D; Section of Dermatology and Venereology Department of Medicine University of Verona Verona Italy.
  • Rigotti E; Department of Surgical Sciences Dentistry, Gynecology and Pediatrics University of Verona Pediatric Clinic Verona Italy.
  • Colato C; Section of Pathology Department of Diagnostics and Public Health University of Verona Verona Italy.
  • Novelli A; Translational Cytogenomics Research Unit Bambino Gesù Children's Hospital IRCCS Rome Italy.
  • Cesario C; Translational Cytogenomics Research Unit Bambino Gesù Children's Hospital IRCCS Rome Italy.
  • Girolomoni G; Section of Dermatology and Venereology Department of Medicine University of Verona Verona Italy.
Clin Case Rep ; 9(11): e05108, 2021 Nov.
Article in English | MEDLINE | ID: covidwho-1536131
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.
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Full text: Available Collection: International databases Database: MEDLINE Type of study: Case report Language: English Journal: Clin Case Rep Year: 2021 Document Type: Article

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Full text: Available Collection: International databases Database: MEDLINE Type of study: Case report Language: English Journal: Clin Case Rep Year: 2021 Document Type: Article