Kindler syndrome with a novel mutation and gynaecological complication

Abstract

Kindler syndrome is a rare genodermatosis characterized by mechanical skin fragility, acral blisters, photosensitivity, poikiloderma, skin atrophy and mucosal inflammation. Kindler syndrome occurs as a result of a mutation in the gene FERMT1 (also known as KIND1) located on chromosome 20p12.3, which codes for kindlin-1. Here, we report a case of a 40-year-old woman with Kindler syndrome associated with a giant myometrial cyst of the uterus, fused labia minora, vaginal stenosis, right eye complicated cataract and chronic periodontal disease. Clinical exome and whole mitochondrial genome sequencing showed a homozygous 4-base-pair deletion (c.1909_1912del) in exon 15 of FERMT1 (NM_017671.5).