ArticleCase reports in dermatological medicine2025
Kindler Syndrome in a 24-Year-Old Male: A Clinical Diagnosis in the Absence of Genetic Testing: A Rare Case Report.
Article in Case reports in dermatological medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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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