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Dowling-Degos disease: a review.

Carla Stephan1, Mazen Kurban1, Ossama Abbas1

  • 1Department of Dermatology, American University of Beirut, Beirut, Lebanon.

International Journal of Dermatology
|December 28, 2020
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Summary

Dowling-Degos disease is a rare genetic skin disorder causing reticulate hyperpigmentation and follicular papules. Mutations in specific genes contribute to its development, often presenting with progressive and difficult-to-treat symptoms.

Area of Science:

  • Dermatology
  • Genetics
  • Pathogenesis of skin disorders

Background:

  • Dowling-Degos disease is a rare autosomal dominant genodermatosis.
  • Characterized by reticulate hyperpigmentation, follicular papules, and perioral scars, typically developing in adulthood.
  • Associated with mutations in genes involved in melanosome transfer and keratinocyte differentiation (KRT5, POFUT1, POGLUT1, PSENEN).

Purpose of the Study:

  • To review the key features, genetic underpinnings, and differential diagnoses of Dowling-Degos disease.
  • To highlight its association with other conditions, such as hidradenitis suppurativa.
  • To discuss the challenges in distinguishing it from related disorders like Galli-Galli disease.

Main Methods:

  • Literature review of Dowling-Degos disease and related genodermatoses.

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  • Analysis of clinical and histopathological distinguishing features.
  • Summary of genetic mutations implicated in the disease's pathogenesis.

    • Main Results:

    • Dowling-Degos disease presents with characteristic skin findings and is linked to specific genetic mutations.
    • It can occur with associated conditions, notably hidradenitis suppurativa.
    • Galli-Galli disease is clinically similar but distinguished by acantholysis on microscopy.

    Conclusions:

    • Dowling-Degos disease is a progressive genodermatosis with complex genetic origins.
    • Accurate diagnosis can be challenging due to overlapping features with other reticulate hyperpigmentation disorders.
    • The condition is generally recalcitrant to treatment, emphasizing the need for further research.