Kindler Syndrome in a 24-Year-Old Male: A Clinical Diagnosis in the Absence of Genetic Testing: A Rare Case Report

TL;DR

A 24-year-old man with symptoms like photosensitivity and skin thinning was diagnosed with Kindler syndrome without genetic testing.

Contribution

This case highlights the importance of clinical and histopathological features in diagnosing Kindler syndrome when genetic testing is not available.

Findings

The patient exhibited clinical signs consistent with Kindler syndrome, including photosensitivity and skin fragility.

Histopathological features supported the clinical diagnosis in the absence of genetic confirmation.

The case emphasizes the role of clinical evaluation in rare genetic disorders when molecular testing is inaccessible.

Abstract

Kindler 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.

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