# Unraveling Dowling–Degos Disease: A Rare Skin Disorder

**Authors:** Mahesh Mathur, Neha Thakur, Supriya Paudel, Sambidha Karki, Sandhya Regmi, Nabita Bhattarai

PMC · DOI: 10.1002/ccr3.70643 · Clinical Case Reports · 2025-07-14

## TL;DR

This paper presents a case of a rare skin disorder called Dowling–Degos disease in a 51-year-old woman and her family.

## Contribution

The study reports a familial case of DDD with clinical and histopathological confirmation.

## Key findings

- The patient had asymptomatic brownish-black reticular lesions in flexural areas.
- The patient's family members also showed similar skin lesions.
- The diagnosis was confirmed through clinical and histopathological evaluation.

## Abstract

Dowling–Degos disease (DDD) is a rare genodermatosis characterized by brown to black macules distributed symmetrically in the axilla, groin, elbow, face, neck, and trunk. It is more common in women, usually after puberty. The main pathogenesis behind DDD is a mutation in the keratin 5 gene. Here, we present a case of 51‐year‐old female presenting as asymptomatic brownish‐black lesions arranged in a reticular pattern involving flexural sites. The clinical and histopathological findings are consistent with DDD. Her mother, brother, son, and daughter also had similar lesions. The patient was counseled about the prognosis and treatment options of the disease.

## Linked entities

- **Genes:** KRT5 (keratin 5) [NCBI Gene 100615215]
- **Diseases:** Dowling–Degos disease (MONDO:0008371)

## Full-text entities

- **Genes:** KRT5 (keratin 5) [NCBI Gene 3852] {aka CK5, DDD, DDD1, EBS1, EBS2, EBS2A}
- **Diseases:** DDD (MESH:C562924), Skin Disorder (MESH:D012871)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12259490/full.md

## References

10 references — full list in the complete paper: https://tomesphere.com/paper/PMC12259490/full.md

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Source: https://tomesphere.com/paper/PMC12259490