First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood
Morten Alstrup, Stephen D. Marks, Jakob Ek, Frederik Buchvald, Thomas Kromann Lund, Michael Perch, Aoife Waters, Mette Mogensen, Anne Marie Jelsig
Abstract
Interstitial Lung disease, Nephrotic syndrome and Epidermolysis Bullosa, also referred to as ILNEB syndrome is an extremely rare autosomal recessive condition, caused by pathogenic variants in ITGA3. 11 patients have previously been diagnosed with ILNEB syndrome of whom 7 died in infancy or early childhood. We report the only patient with ILNEB syndrome who survived past adolescence, partly due to a double lung transplant. Additionally, our patient showed oral, nasal and gynecological symptoms not previously reported in patients with ILNEB syndrome.
Topics & Concepts
MedicineNephrotic syndromeEpidermolysis bullosaPediatricsDermatologyInternal medicineWnt/β-catenin signaling in development and cancerSkin and Cellular Biology ResearchInterstitial Lung Diseases and Idiopathic Pulmonary Fibrosis