Darier-White disease.

Area of Science:

• Dermatology
• Genetics
• Psychiatry

Background:

• Darier-White disease is a rare autosomal dominant disorder caused by SERCA2 calcium pump mutations.
• It typically manifests in adolescence or early adulthood with characteristic skin and nail changes.
• Alterations in calcium homeostasis disrupt desmosome assembly, leading to acantholysis and apoptosis.

Observation:

• A 58-year-old woman with bipolar disorder presented with a history of yellow-brown, hyperkeratotic papules and nail changes.
• Her family history included similar skin eruptions and psychiatric illness in her father and paternal grandmother.
• Histopathology confirmed Darier-White disease, characterized by acantholysis and dyskeratosis.

Findings:

• Genetic linkage analysis indicates that a susceptibility locus for bipolar disorder may cosegregate with genetic markers for Darier-White disease.
• This suggests a potential shared genetic basis or linkage between the two conditions.
• The study highlights the role of calcium dysregulation in both Darier-White disease and potentially in psychiatric disorders.

Implications:

• This finding may offer new insights into the pathophysiology of bipolar disorder.
• It could lead to novel therapeutic targets for both Darier-White disease and bipolar disorder.
• Further research into the genetic overlap could improve patient diagnosis and management.