Urological Manifestations of Kindler Syndrome: A Case Report

Abstract

Kindler syndrome is a rare autosomal recessive skin disorder. It results from mutation of the FERM domain containing kindlin-1 (FERMT1) that leads to loss of function of kindlin-1, which plays a role in keratinocyte adhesion, polarization, proliferation, and migration. It is characterized by skin blistering, photosensitivity, progressive poikiloderma, and skin atrophy. The mucosae genitourinary system is commonly affected. The urological manifestations include meatal stenosis, urethral stricture, phimosis, and scarring of the glans penis. Skin biopsy with genetic analysis is the gold standard for diagnosis. Genetic counseling and a multidisciplinary approach are the mainstays of treatment.

Keywords: fermt1; genetic counseling; kindler syndrome; meatal stenosis; urological manifestation of kindler syndrome.

Figure 1. Skin manifestations of Kindler syndrome showing hypopigmented and hyperpigmented patches, hyperkeratosis, cigarette paper-like wrinkling on the dorsum of hands

Figure 2. Meatal stenosis with scarring of the glans penis

Figure 3. Biopsy of skin showed subepidermal acantholysis and telangiectasia