Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies

• Nathalie Pironon,
• Anne Welfringer-Morin,
• Stéphanie Leclerc-Mercier,
• Emmanuelle Bourrat,
• Alain Hovnanian

Affiliations

Nathalie Pironon

ORCiD

Laboratory of genetic skin diseases, Université Paris Cité, Inserm, UMR 1163, Institut Imagine, Paris, France

Anne Welfringer-Morin

ORCiD

Department of Dermatology, AP-HP, Hôpital Saint-Louis, Paris, France

Stéphanie Leclerc-Mercier

ORCiD

Department of Pathology, AP-HP, Hôpital Necker-Enfants Malades, Paris, France

Emmanuelle Bourrat

ORCiD

Department of Dermatology, AP-HP, Hôpital Saint-Louis, Paris, France; Centre de référence maladies rares MAGEC Nord Site Saint-Louis, Hôpital Saint-Louis, Paris, France

Alain Hovnanian

ORCiD

Université Paris Cité, Inserm, UMR 1163, Institut Imagine, Laboratory of genetic skin diseases, Paris, France; Department of Genomic Medicine of Rare Diseases, AP-HP, Hôpital Necker-Enfants Malades, Paris, France