Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions

• Main Authors: Svetlana Vakkilainen (Author), Laura Puhakka (Author), Paula Klemetti (Author), Kaarina Heiskanen (Author), Mikko Seppänen (Author), Mikko Muona (Author), Celine Posseme (Author), Darragh Duffy (Author), Timo Väisänen (Author), Outi Elomaa (Author), Maarit Palomäki (Author), Harri Saxén (Author), Annamari Ranki (Author), Katariina Hannula-Jouppi (Author)
• Format: Book
• Published: Medical Journals Sweden, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Desmoplakin (DSP) and Desmoglein 1 (DSG1) variants result in skin barrier defects leading to erythroderma, palmoplantar keratoderma and variable [AQ4] other features. Some DSG1 variant carriers present with SAM syndrome (Severe dermatitis, multiple Allergies, Metabolic wasting) and a SAM-like phenot...