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

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

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...

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Bibliographic Details
Main Authors: Svetlana Vakkilainen, Laura Puhakka, Paula Klemetti, Kaarina Heiskanen, Mikko Seppänen, Mikko Muona, Celine Posseme, Darragh Duffy, Timo Väisänen, Outi Elomaa, Maarit Palomäki, Harri Saxén, Annamari Ranki, Katariina Hannula-Jouppi
Format: Article
Language:English
Published: Society for Publication of Acta Dermato-Venereologica 2019-06-01
Series:Acta Dermato-Venereologica
Subjects:
desmoglein
desmoplakin
metabolic wasting
SAM syndrome
severe dermatitis
Online Access: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3203

Internet

https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3203

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