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Related Experiment Video

Updated: Jun 15, 2026

Detection of Human Leukocyte Antigen Biomarkers in Breast Cancer Utilizing Label-free Biosensor Technology
08:27

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Published on: March 24, 2015

[Hailey-Hailey disease. Case for diagnosis].

Kleber de Sousa Silveira1, Renata Indelicato Zac, Patrícia Jannuzzi Vieira E Oliveira

  • 1Santa Casa de Belo Horizonte, MG, Brasil. kleberdss@oi.com.br

Anais Brasileiros De Dermatologia
|March 2, 2010
PubMed
Summary

This study details a rare case of Hailey-Hailey disease presenting as mosaicism in a child with blistering lesions. Symmetrical family involvement and distinctive histological findings were observed.

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Published on: March 24, 2015

Area of Science:

  • Dermatology
  • Genetics
  • Histopathology

Background:

  • Hailey-Hailey disease is a rare genetic disorder causing blistering skin lesions.
  • It typically follows an autosomal dominant inheritance pattern.
  • Mosaicism, where an individual has cells with different genetic makeups, is an uncommon presentation.

Observation:

  • A 9-year-old girl presented with blistering lesions localized to one side of her body.
  • Several family members exhibited similar, but symmetrical, skin manifestations.
  • Histological examination revealed acantholysis, described as a 'dilapidated brick wall' appearance.

Findings:

  • The observed clinical and histological features suggest a rare form of mosaicism in Hailey-Hailey disease.
  • The unilateral presentation in the child contrasts with the symmetrical pattern in affected family members.
  • This case highlights the variable expressivity of genetic conditions.

Implications:

  • Understanding mosaicism in Hailey-Hailey disease expands diagnostic possibilities.
  • This case may inform genetic counseling for families with similar conditions.
  • Further research into the genetic mechanisms of mosaicism in dermatological disorders is warranted.