Kindler Syndrome with Bleeding Gums and Bleeding Per Rectum: A Case Report

Abstract

Kindler syndrome is a rare genetic skin disorder caused by a mutation in chromosome 20's short arm that
leads to the loss of kindlin-1 function. Kindlin-1 plays an important role in keratinocyte adhesion. The
syndrome is characterized by skin fragility and various skin problems such as photosensitivity, skin
discoloration, inflammation of the mucous membrane, bleeding gums, blistering, skin atrophy, and poor
dentition. We present a unique case of a 12-year-old boy with Kindler syndrome who had bleeding gums. It
requires a multidisciplinary approach and genetic counseling. Due to genetic heterogeneity, prenatal
diagnosis is challenging.
Keywords: Genodermatosis, Epidermolysis bullosa, Kindler syndrome, Photosensitivity, skin atrophy,
poikiloderma