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

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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Publication Details

Journal
Case Reports in Dermatological Medicine
Published
2025-01-01
DOI
https://doi.org/10.1155/crdm/9343494
Primary Topic
Skin and Cellular Biology Research
Type
article
Field-Weighted Citation Impact
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article

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

Zuheir Alshehabi, Rim Nasser, Moatasem Hussein Al‐janabi, Alaa Mahmoud et al.
Case Reports in Dermatological Medicine
Skin and Cellular Biology Research
article

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

Zuheir Alshehabi, Rim Nasser, Moatasem Hussein Al‐janabi, Alaa Mahmoud, D Ahmad, Fouz Hassan
article en

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.

Case Reports in Dermatological MedicineVol. 2025(1)
Latakia University (SY)
Openalex Percentile: Top 67%
Skin and Cellular Biology Research
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