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A case of Hailey-Hailey disease in an infant with a new ATP2C1 gene mutation

Zhe Xu1, Lixin Zhang, Yuanyuan Xiao

  • 1Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.

Pediatric Dermatology
|April 21, 2010
PubMed

Insights

Hailey-Hailey disease, a rare blistering condition, was diagnosed in a 5-month-old Chinese infant, the youngest reported case. Genetic analysis revealed an ATP2C1 gene mutation, confirming the diagnosis in the infant and his mother.

Area of Science:

  • Dermatology
  • Genetics
  • Rare Diseases

Background:

  • Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is an inherited blistering disorder.
  • It typically follows an autosomal-dominant inheritance pattern.
  • The condition is characterized by recurrent blistering and erosions, primarily affecting the trunk and neck.

Observation:

  • A rare case of familial benign chronic pemphigus is reported in a 5-month-old Chinese infant.
  • The infant presented with widespread skin lesions, making him the youngest documented patient with Hailey-Hailey disease.
  • The proband's mother carried the same genetic mutation but remained asymptomatic.

Findings:

  • Genetic testing identified a mutation in the ATP2C1 gene in the infant, confirming the diagnosis of Hailey-Hailey disease.
  • This mutation was also present in the infant's mother, indicating autosomal-dominant inheritance.
  • The case highlights the ATP2C1 gene's crucial role in keratinocyte adhesion.

Implications:

  • This case expands the known spectrum of Hailey-Hailey disease presentation, particularly in infancy.
  • Early diagnosis and genetic confirmation are vital for managing this rare blistering disorder.
  • Further research into ATP2C1 mutations may offer insights into novel therapeutic strategies for Hailey-Hailey disease.

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