The urine as a diagnostic key for a homozygous EGFR mutation

• Main Authors: Mafalda Casinhas Santos (Author), Margarida Almendra (Author), Sofia Bota (Author), Helena Ramos (Author), Telma Francisco (Author)
• Format: Book
• Published: Publicações Ciência e Vida, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Primary inherited epidermal growth factor receptor defects have recently been described in severe inflammatory skin disease and diarrhoea case reports. We describe two case reports of female preterm newborns of Roma consanguineous parents who presented both with alopecia and erythroderma/ichthyosis,...