Case reports in dermatological medicine
Kindler Syndrome in a 24-Year-Old Male: A Clinical Diagnosis in the Absence of Genetic Testing: A Rare Case Report.
Dyala Sayed Ahmad, Rim Nasser, Alaa Mahmoud, Moatasem Hussein Al-Janabi, Zuheir Al-Shehabi, Fouz Hassan
Published: 202510.1155/crdm/9343494
Abstract
Open AccessKindler syndrome is an uncommon autosomal recessive genodermatosis, with roughly 400 documented cases worldwide as of March 2024. We describe a 24-year-old male, born to consanguineous but otherwise healthy parents, who presented with photosensitivity, gingival fragility, thinning of the skin, restricted finger mobility, and tooth loss. Although molecular testing represents the standard diagnostic tool, our diagnosis was established on the basis of distinctive clinical and histopathological features, which remain crucial in settings where genetic confirmation is unavailable.