Abstract
Kindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive
mode of inheritance. It is characterized by acral blistering in infancy and childhood,
progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility.
Besides these major features, many minor presentations have also been reported in
the literature. We are reporting two cases with atypical features of the syndrome
and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done
using next-generation sequencing which detected a homozygous loss-of-function (LOF)
variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American
College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients
even though the presentation was atypical.
Keywords
photosensitivity - genodermatosis - Kindler's syndrome - poikiloderma - epidermolysis
bullosa
