[Hailey-Hailey disease. Case for diagnosis]

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.