Galli-Galli Disease (Dowling-Degos Disease Type 3) Associated with a Novel POGLUT1 Nonsense Variant: Clinicopathologic and Immunohistochemical Correlation.
José González Fernández, Mar García García, Diego Larrosa Martínez et al.
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Case in brief
A 55-year-old man presented with recurrent pruritic erythematous scaly papules on the trunk and hyperkeratotic brown papules on the neck and chest. Initial histopathology misidentified a pigmented papule as simple lentigo. Further evaluation revealed features consistent with Dowling-Degos disease type 3, confirmed by whole-exome sequencing identifying a novel POGLUT1 nonsense variant. The case underscores the importance of clinicopathologic correlation.
What made this case unusual
The case involved a novel early nonsense variant in POGLUT1, which is significant for the genetic understanding of Dowling-Degos disease.
Diagnostic / clinical pearl
Clinicians should be aware of the potential for misdiagnosis in Dowling-Degos disease due to subtle histopathologic features like focal acantholysis.
Why it matters
This case illustrates the necessity of thorough clinicopathologic correlation and the role of genetic testing in confirming diagnoses of complex dermatologic conditions.