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[Hailey-Hailey disease: A case report].

Jesús Sebastián Rodríguez-Gutiérrez1, Antonio Tirado-Motel1, Jesús Leonel Sarabia-Esquerra1

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Summary

Hailey-Hailey disease, a rare genetic disorder caused by ATP2C1 mutations, presents as easily ruptured vesicles. Diagnosis involves histopathology showing a "dilapidated brick wall" appearance.

Keywords:
BlisterHailey-Hailey DiseasePemphigus, Benign Familial

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Area of Science:

  • Dermatology
  • Genetics

Background:

  • Hailey-Hailey disease is a rare autosomal dominant genodermatosis.
  • It stems from mutations in the ATP2C1 gene, affecting approximately 1 in 50,000 individuals.
  • The condition manifests as easily ruptured, grouped flaccid vesicles.

Observation:

  • A male patient presented with disseminated dermatosis affecting the neck, trunk, axillary, inguinal, and intergluteal folds.
  • The lesions were unilateral, asymmetric, and polymorphous, including exulceration, erythema, pustules, and flaccid vesicles coalescing into eczematous and hypertrophic plaques.
  • The chronic condition was accompanied by pruritus.

Findings:

  • Histopathological examination reveals a characteristic "dilapidated brick wall" appearance.
  • Dyskeratosis, presenting as round bodies and pimples, is a key diagnostic feature.
  • Topical corticosteroids are frequently employed in treatment.

Implications:

  • Recognizing Hailey-Hailey disease is crucial for accurate differential diagnosis in clinical practice.
  • Understanding the genetic basis and clinical presentation aids in patient management.
  • Further research into therapeutic options for this rare genodermatosis is warranted.