Lethal Carmi syndrome (junctional epidermolysis bullosa-pyloric atresia) with a novel and recurrent compound integrin beta 4 heterozygous mutation: A case report

• Suci Widhiati, MD, PhD,
• Nabila Kirtti Pradipta, MD, MSc,
• Dewajani Purnomosari, MSi, PhD,
• Retno Danarti, MD, PhD,
• Alifah Anggraini, MD, MSc,
• Retno Palupi-Baroto, MD, MSc,
• Niken Trisnowati, MD, PhD

Affiliations

Suci Widhiati, MD, PhD

Department of Dermatology and Venereology, Faculty of Medicine, Universitas Sebelas Maret/Dr Moewardi General Hospital, Surakarta, Indonesia

Nabila Kirtti Pradipta, MD, MSc

Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia

Dewajani Purnomosari, MSi, PhD

Department of Histology and Cell Biology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia

Retno Danarti, MD, PhD

Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia

Alifah Anggraini, MD, MSc

Department of Child Health, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia

Retno Palupi-Baroto, MD, MSc

Department of Child Health, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia

Niken Trisnowati, MD, PhD

Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia; Correspondence to: Niken Trisnowati, MD, PhD, Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Jl. Farmako Sekip Utara, Yogyakarta, 55281, Indonesia.