# Navigating Diagnostic Uncertainty: Frontal Fibrosing Alopecia Versus Keratosis Pilaris Atrophicans Faciei With Genetic Testing Insights

**Authors:** Deesha D Desai, Ambika Nohria, Jerry Shapiro, Kristen I Lo Sicco

PMC · DOI: 10.7759/cureus.58830 · Cureus · 2024-04-23

## TL;DR

This paper discusses the diagnostic challenges between two skin conditions and explores how genetic testing can help improve accuracy.

## Contribution

The paper presents a case study highlighting the potential of genetic testing in distinguishing similar skin conditions.

## Key findings

- The case study involved a 36-year-old male with symptoms of both KPAF and FFA.
- Genetic testing was used, though it tested negative for the mutation in question.
- The study suggests genetic testing could enhance diagnostic accuracy and treatment outcomes.

## Abstract

Keratosis pilaris atrophicans faciei (KPAF) and frontal fibrosing alopecia (FFA) present diagnostic challenges due to their similar clinical characteristics. Dermatologists often employ overlapping treatment regimens, which may hinder accurate diagnosis and treatment expectations. Genetic testing offers promise for precise diagnosis and tailored treatment strategies, yet its utility in these conditions remains underexplored. This manuscript presents a unique case study of a 36-year-old male with symptoms of both KPAF and FFA, who underwent genetic testing. Despite testing negative for this mutation, the case underscores the potential of genetic testing to enhance diagnostic accuracy and optimize treatment outcomes.

## Linked entities

- **Diseases:** Keratosis pilaris atrophicans faciei (MONDO:0859588), frontal fibrosing alopecia (MONDO:0016776)

## Full-text entities

- **Diseases:** FFA (MESH:D005355), KPAF (OMIM:604093)

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11114203/full.md

## References

10 references — full list in the complete paper: https://tomesphere.com/paper/PMC11114203/full.md

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Source: https://tomesphere.com/paper/PMC11114203