Paediatrics and genetics

This question highlights the diagnostic value of cutaneous findings in identifying genodermatoses with systemic implications. We present a case of Birt–Hogg–Dubé syndrome, with emphasis on the importance of recognizing fibrofolliculomas as a clinical clue to guide genetic testing and systemic surveillance.

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Publication Details

Journal
Clinical and Experimental Dermatology
Published
2025-06-21
DOI
https://doi.org/10.1093/ced/llaf288
Primary Topic
Child and Adolescent Health
Type
article
Field-Weighted Citation Impact
0.00
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article

Paediatrics and genetics

Puo Nen Lim, G. Parkins, Dhanya Kuladeva
Clinical and Experimental Dermatology
Child and Adolescent Health
article

Paediatrics and genetics

Puo Nen Lim, G. Parkins, Dhanya Kuladeva
article en

Abstract

This question highlights the diagnostic value of cutaneous findings in identifying genodermatoses with systemic implications. We present a case of Birt–Hogg–Dubé syndrome, with emphasis on the importance of recognizing fibrofolliculomas as a clinical clue to guide genetic testing and systemic surveillance.

Clinical and Experimental DermatologyVol. 50(11)
NHS Ayrshire and Arran (GB), University Hospital Crosshouse (GB), NHS Greater Glasgow and Clyde (GB), Glasgow Royal Infirmary (GB)
Openalex Percentile: Top 75%
Child and Adolescent Health
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